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Gene: Nos3 MGI:97362

Gene Summary

Name:

nitric oxide synthase 3, endothelial cell

Synonyms:

Nos-3, ecNOS, eNOS, 2310065A03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal epididymis morphology	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Nos3^em1(IMPC)Mbp	HOM	Early adult	1.53×10^-05
increased heart weight	Nos3^em1(IMPC)Mbp	HOM	Early adult	7.74×10^-07
decreased fasting circulating glucose level	Nos3^em1(IMPC)Mbp	HOM	Early adult	1.36×10^-05
decreased lymphocyte cell number	Nos3^em1(IMPC)Mbp	HOM	Early adult	5.63×10^-05
decreased circulating phosphate level	Nos3^em1(IMPC)Mbp	HOM	Early adult	2.85×10^-07
increased basophil cell number	Nos3^em1(IMPC)Mbp	HOM	Early adult	4.17×10^-05
increased neutrophil cell number	Nos3^em1(IMPC)Mbp	HOM	Early adult	1.11×10^-07
enlarged spleen	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged epididymis	Nos3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased eosinophil cell number	Nos3^em1(IMPC)Mbp	HOM	Early adult	3.12×10^-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

5 Images

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Human diseases caused by Nos3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nos3 (4 diseases)
Human diseases predicted to be associated with Nos3 (4272 diseases)

The table below shows human diseases associated to Nos3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypertension, Essential	Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure	OMIM:145500
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Alzheimer Disease, Familial, 1	Dementia	OMIM:104300
Stroke, Ischemic		OMIM:601367

The table below shows human diseases predicted to be associated to Nos3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Hypertension, Essential	Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure	OMIM:145500
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Nondisjunction	Decreased fertility	OMIM:158250
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:610508
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev...	OMIM:615238
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys...	ORPHA:79085
Diabetes Mellitus, Transient Neonatal, 2	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Iga Nephropathy, Susceptibility To, 3	Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu...	OMIM:616818
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol...	OMIM:610947
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	ORPHA:435660
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity, Hypertension	OMIM:605552
Nail-Patella-Like Renal Disease	Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity, Hypertension	OMIM:605572
Focal Segmental Glomerulosclerosis 5	Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Focal Segmental Glomerulosclerosis 2	Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney...	OMIM:603965
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein...	OMIM:601894
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:108725
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo...	ORPHA:435651
Iga Nephropathy, Susceptibility To, 2	Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni...	OMIM:613944
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Increased circulating brain natriuretic peptide concentration, Reduced left ventr...	OMIM:620734
Renal Failure, Progressive, With Hypertension	Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena...	OMIM:161900
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M...	OMIM:137950
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:601820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diab...	ORPHA:79084
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:604091
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ...	OMIM:610600
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R...	OMIM:612526
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556037
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemi...	ORPHA:276575
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Failure to thrive, De...	OMIM:203400
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab...	ORPHA:324575
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Hypertension, Obesity, T...	ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas...	OMIM:177735
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Loss of gluteal ...	OMIM:604367
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemi...	ORPHA:276556
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Premature Ovarian Failure 15	Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E...	OMIM:618096
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Hypertriglyceridemia, Hypertension, Lipodystrophy, Insulin resistance, Hepatic steat...	OMIM:613877
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul...	OMIM:218030
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis	OMIM:613148
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemi...	ORPHA:276580
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort...	ORPHA:556030
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun...	OMIM:608600
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Premature Ovarian Failure 1	Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation	OMIM:311360
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism	OMIM:620125
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Iga Nephropathy, Susceptibility To, 1	Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni...	OMIM:161950
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Left ventricular outfl...	OMIM:613255
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic...	ORPHA:280365
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Ecze...	OMIM:618348
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ...	OMIM:612567
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoketotic hypoglycemia, Hypoproteinemia, Hyperammonemia, Hypocalcemia, P...	ORPHA:26793
Hyperaldosteronism, Familial, Type Iv	Hypertension, Elevated aldosterone:renin ratio, Hyperaldosteronism	OMIM:617027
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Neph...	OMIM:616730
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,...	OMIM:266600
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Inflammatory Bowel Disease 11	Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea...	OMIM:615980
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int...	OMIM:619079
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618126
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Mandibuloacral Dysplasia	Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L...	ORPHA:2457
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, H...	OMIM:232700
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Al Amyloidosis	Gastrointestinal hemorrhage, Increased circulating antibody level, Abnormal heart morphology, Abn...	ORPHA:85443
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Increased...	ORPHA:171876
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Invasive Mole	Menometrorrhagia	ORPHA:99925
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Hypertension...	ORPHA:49041
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Heart block, Myoglobinuri...	ORPHA:228308
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s...	ORPHA:54370
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:604765
Megabladder, Congenital	Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction...	OMIM:618719
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Prolonged QT interval, Hypoketotic hypoglycemia, Fa...	ORPHA:71212
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Timothy Syndrome	Pneumonia, Hypothermia, Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Bronchiti...	OMIM:601005
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Orthostatic hypotension, Retrograde ejaculation, Orthostatic syncope, S...	ORPHA:230
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Bardet-Biedl Syndrome 19	External genital hypoplasia, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephro...	OMIM:615996
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent uppe...	OMIM:263000
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Hypertension, Nephrotic syndrome, Micro...	ORPHA:84090
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Central Retinal Vein Occlusion	Retinal neovascularization, Cystoid macular edema, Macular degeneration, Intraretinal hemorrhage,...	ORPHA:411527
Liddle Syndrome 1	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:177200
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Polycystic Kidney Disease 7	Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ...	OMIM:620056
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Denys-Drash Syndrome	Hypertension, Nephrotic syndrome, Proteinuria, Nephroblastoma, Nephropathy	ORPHA:220
Primary Erythromelalgia	Vasculitis, Recurrent respiratory infections, Hypothermia	ORPHA:90026
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis, Ab...	ORPHA:90064
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hypertension, Cor...	OMIM:615812
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hypertension, Cardiomyopathy, Cognitive impairment, Telangiectasia, ...	ORPHA:247691
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Oligomeganephronia	Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ...	ORPHA:2260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Hyper...	ORPHA:363400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Chromosome 2Q31.1 Duplication Syndrome	Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ...	ORPHA:363444
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Aapoaiv Amyloidosis	Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal cardiac ven...	ORPHA:439232
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,...	ORPHA:891
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing...	OMIM:249710
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased circulating renin level,...	OMIM:300539
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Intestinal bleeding, Telangiectasia, Myocarditis, Abnormal...	ORPHA:90291
Glycogen Storage Disease Iii	Hepatomegaly, Ventricular hypertrophy, Hyperlipidemia, Cardiomyopathy, Elevated circulating creat...	OMIM:232400
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased glomerular filtra...	ORPHA:85450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Ethylene Glycol Poisoning	Renal tubular epithelial necrosis, Prolonged QT interval, Decreased urine output, Hypertension, C...	ORPHA:31826
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Hypertension, Growth delay, Renal hypoplasia, Secundum atrial septal defe...	OMIM:619758
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Splenomegaly...	OMIM:617303
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Premature Ovarian Failure 11	Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin leve...	ORPHA:427
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Eales Disease	Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, P...	ORPHA:528
Heparin-Induced Thrombocytopenia	Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia, Myocardial infarction	ORPHA:3325
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,...	OMIM:615381
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Bradycardia, Increased circulating free fatty acid level, Failure to th...	OMIM:610768
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Tubulointerstitial fibrosis, Hypertension, Glycosuria, Lung ...	OMIM:618913
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Hypospadias, Tracheobronchomalacia, Patent foramen ovale, Eczematoid derm...	ORPHA:500159
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper...	OMIM:600649
Orthostatic Hypotension 1	Atrial fibrillation, Neonatal hypoglycemia, Retrograde ejaculation, Orthostatic hypotension	OMIM:223360
Bardet-Biedl Syndrome 16	Recurrent otitis media, External genital hypoplasia, Recurrent respiratory infections, Respirator...	OMIM:615993
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio...	ORPHA:656
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P...	OMIM:265450
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia, Vertebra...	OMIM:618845
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Abnormal blood ion concentration, Ed...	ORPHA:79404
Placental Site Trophoblastic Tumor	Metrorrhagia, Amenorrhea	ORPHA:99928
Pseudo-Torch Syndrome 2	Hepatomegaly, Bradycardia, Petechiae, Pleural effusion, Ascites, Abnormal renal corticomedullary ...	OMIM:617397
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Aicardi-Goutieres Syndrome 9	Hypertension, Chilblains, Ascites, Pericarditis, Left ventricular hypertrophy, Intrauterine growt...	OMIM:619487
Focal Segmental Glomerulosclerosis 1	Hypertension, Pleural effusion, Hyperlipidemia, Focal segmental glomerulosclerosis, Ascites, Hype...	OMIM:603278
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascite...	OMIM:232500
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo...	OMIM:614492
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin...	OMIM:619048
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Pancytopenia, Hypergonadotropic hypo...	OMIM:617872
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Hypertension, Hyperlipidemia, Ascites, Macroscopic hematuria, Edema, Anasarca, S...	ORPHA:567546
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly	ORPHA:294975
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Enterocolitis, Vomiting	OMIM:260005
Alport Syndrome	Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial f...	ORPHA:63
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Prolactin Deficiency, Isolated	Infertility, Reduced circulating prolactin concentration, Irregular menstruation	OMIM:264110
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Premature Ovarian Failure 16	Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat...	OMIM:618723
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly	OMIM:121300
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Diamond-Blackfan Anemia 7	Osteopenia, Recurrent otitis media, Polyhydramnios, Vesicoureteral reflux, Esophagitis, Osteoporo...	OMIM:612562
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp...	OMIM:602450
Lessel-Kubisch Syndrome	Premature graying of hair, Hypertension, Short stature, Renal hypoplasia, Hypogonadism, Renal ins...	OMIM:618681
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Dextrocardia, Ureteral stenosis, Tachypnea, Hypoxemia, Secundum atrial se...	ORPHA:2257
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hypothermia, Hyperalaninemia, Bradycardia	OMIM:614654
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertrophic cardiomy...	OMIM:618235
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Short stature, Renal hypoplasia, Tetralogy of ...	OMIM:612946
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Hypospadias, Tracheobronchomalacia, Eczematoid dermatitis, Recurrent pneu...	OMIM:617751
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Gluc...	ORPHA:231625
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Tubulointerstitial fibrosis, Hypertension...	ORPHA:79259
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Left ventricular hypertro...	OMIM:540000
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Congestive heart failure, Hypertriglyceridemia, Cirrhosis, Maternal diabetes, Pancre...	ORPHA:79083
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hepatomegaly, Respiratory distress, Hyperalaninemia, Hypertrophic ca...	ORPHA:254913
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Growth dela...	OMIM:256300
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Bradycardia, Neonata...	ORPHA:95717
Sengers Syndrome	Premature ovarian insufficiency, Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial ...	OMIM:212350
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated...	ORPHA:449395
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Gene...	ORPHA:79086
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Focal segmental glomerul...	OMIM:614455
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ...	OMIM:619747
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Cardiomegaly, Bicusp...	OMIM:300855
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Respiratory distress, Hypertension, Abnormal renal corticomedullary...	OMIM:616733
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Memory impairment, Hypergonadotropic hypogonadism, Obesity, Hyperglyc...	OMIM:619737
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Death in childhood, Hypospadias, Epiphyseal stippling, Adrena...	OMIM:214100
Emanuel Syndrome	Chronic oral candidiasis, Recurrent otitis media, Unilateral renal agenesis, Recurrent respirator...	OMIM:609029
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Simplified gyral pattern, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Emanuel Syndrome	Recurrent otitis media, Unilateral renal agenesis, Recurrent respiratory infections, Multiple joi...	ORPHA:96170
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardio...	OMIM:212138
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Edema, Hypoalbuminemia, St...	OMIM:615573
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux	OMIM:109350
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ...	OMIM:617885
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Bicuspid aortic valve...	ORPHA:401923
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoalbuminemia, Diff...	OMIM:610725
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension	OMIM:619751
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Hepatomegaly, Hyperlipidemia, Hypertrophic cardiomyopathy, Failure to thrive, Hy...	ORPHA:369
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature...	OMIM:614662
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism	ORPHA:1345
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Alg12-Cdg	Prolonged prothrombin time, Abnormal bone ossification, Intrauterine growth retardation, Edema, H...	ORPHA:79324
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe...	ORPHA:93409
Liddle Syndrome	Hypertension, Cerebral ischemia, Hypokalemia, Arrhythmia	ORPHA:526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Tachycar...	ORPHA:276608
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia, Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgit...	OMIM:616501
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618014
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration...	OMIM:607426
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick...	ORPHA:1652
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Pleural effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Peri...	OMIM:614702
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Congenital Disorder Of Glycosylation, Type Iie	Congestive heart failure, Perimembranous ventricular septal defect, Hepatomegaly, Jaundice, Exces...	OMIM:608779
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Necrobiosis Lipoidica	Granuloma, Diabetes mellitus, Telangiectasia of the skin, Abnormality of neutrophil physiology	ORPHA:542592
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal...	ORPHA:1350
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Hypotension, Obesity, Glucose intolerance, Postural hypotension with compensato...	ORPHA:369873
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Premature Ovarian Failure 17	Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul...	OMIM:619146
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr...	ORPHA:45452
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231580
Variegate Porphyria	Tachycardia	OMIM:176200
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Familial Hyperprolactinemia	Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Nephrotic Syndrome, Type 24	Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo...	OMIM:619263
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Postaxial hand polydactyly, Syndactyly	OMIM:615938
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Hypocystinemia, Decreased circulating antibody leve...	OMIM:617744
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Pulmonary edema, Elevated diastolic blood pressur...	ORPHA:275555
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Generalized edema, Proteinuria, Chronic ki...	OMIM:615244
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Methanol Poisoning	Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral ...	ORPHA:31825
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Takayasu Arteritis	Anemia, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, Hypertensiv...	ORPHA:3287
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension, Hypokalemia	OMIM:605635
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Unilateral renal agenesis, Bicoronal synostosis, Vesicoureteral reflux, Cam...	OMIM:619951
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Splenomegaly, Pulmonary arterial hypertension, Secundum atri...	OMIM:612541
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Cach Syndrome	Gonadal dysgenesis, Premature ovarian insufficiency, Pancreatitis, Nonketotic hyperglycinemia, Se...	ORPHA:135
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicit...	OMIM:611555
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud...	OMIM:619350
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Seckel Syndrome 10	Hypertriglyceridemia, Congestive heart failure, Hypertension, Ventricular hypertrophy, Impaired g...	OMIM:617253
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Microphthalmia, Syndromic 9	Pulmonic stenosis, Severe short stature, Intrauterine growth retardation, Alveolar capillary dysp...	OMIM:601186
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoa...	OMIM:600995
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Short stat...	OMIM:617730
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Astley-Kendall Dysplasia	Micromelia, Epiphyseal stippling	ORPHA:85175
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Mody	Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-...	ORPHA:552
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Hyperaldostero...	OMIM:613677
Hypothyroidism, Congenital, Nongoitrous, 8	Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro...	OMIM:301033
Immunodeficiency 88	Eosinophilia	OMIM:619630
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Congestive heart failure, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of ...	ORPHA:2348
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Impotence, Thrombocytopenia, Raynaud phenomenon, Achalasia	OMIM:615750
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Micropenis, Duplicated collecting system, Cryptorchidism	OMIM:620071
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Focal segmental glomerulosclerosis, Nephro...	OMIM:618347
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic trans...	ORPHA:264580
Amyloidosis, Familial Visceral	Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy	OMIM:105200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,...	OMIM:262190
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Hypertension, Camptodactyly, Nephrotic syndrome, Short stature, Diffuse mes...	OMIM:617729
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Pulmonary arterial hypertension, Syncope	OMIM:265400
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Bradycardia, Abnorma...	ORPHA:95716
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Unilateral renal agenesis, Patent foramen ovale, Cryptorchidism, Increase...	OMIM:618494
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Kleefstra Syndrome	Chronic otitis media, Supernumerary nipple, Hypospadias, Hypoplasia of penis, Tracheomalacia, Ves...	ORPHA:261494
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Cardiomegaly, Adducted thu...	OMIM:616897
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t...	OMIM:309630
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Splenic cyst, Abn...	ORPHA:400
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Hypoplastic left heart	OMIM:236110
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hypothyroidism, Obesity, Abnorm...	ORPHA:77296
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular...	OMIM:209900
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc...	OMIM:603552
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l...	ORPHA:90791
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation	ORPHA:401945
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cortisone Reductase Deficiency 1	Precocious puberty, Oligomenorrhea, Infertility	OMIM:604931
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper...	OMIM:151660
Frasier Syndrome	Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Hypertension, Focal segmental glomerul...	ORPHA:347
Gordon Holmes Syndrome	Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo...	OMIM:212840
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypothermia, Bradycardia, Elevated circulating creatine kinase conc...	OMIM:618775
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Interstitial Lung Disease 2	Increased circulating antibody level, Pulmonary arterial hypertension	OMIM:178500
Cryoglobulinemia, Familial Mixed	Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease	OMIM:123550
Galactosemia I	Increased level of galactitol in red blood cells, Premature ovarian insufficiency, Hepatomegaly, ...	OMIM:230400
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie...	ORPHA:1909
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Impaired glucose tolerance, Simplified gyral pattern, Atrioventricular block, Glucos...	OMIM:614407
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul...	ORPHA:320
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormal heart morphology, Abnormality o...	ORPHA:91139
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Pes cavus, Limited elbow movement, Elevated circulating hepatic transami...	OMIM:300280
Spontaneous Periodic Hypothermia	Hypothermia, Arrhythmia	ORPHA:29822
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Prune Belly Syndrome	Decreased fertility, Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormal...	ORPHA:2970
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Even-Plus Syndrome	Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, Atopic dermatiti...	OMIM:616854
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Ascites, Left-to-right shunt, Prolonged neonatal jaundice, Dark ...	OMIM:619534
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Arrhythmia, Hypoglycemia, Su...	ORPHA:156
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short ...	OMIM:301006
Hypertriglyceridemia 1	Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Monosomy 18Q	Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul...	ORPHA:1600
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio...	ORPHA:2959
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,...	OMIM:610205
Wild Type Attr Amyloidosis	Congestive heart failure, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pulmonary ede...	ORPHA:330001
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension	OMIM:234810
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Type I diabetes mellitus, Throm...	OMIM:304790
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Brachydactyly	ORPHA:1277
Distal Myopathy, Tateyama Type	Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231632
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Short stature, Renal hypoplasia, P...	OMIM:617661
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis	ORPHA:79087
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus	OMIM:182690
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus, Lipodystrophy	OMIM:246650
Gitelman Syndrome	Delayed puberty, Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin lev...	OMIM:263800
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis, Recurrent bronchitis	OMIM:216950
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Muscular Dystrophy, Becker Type	Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:263455
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Squalene Synthase Deficiency	Hypospadias, Knee flexion contracture, Cutaneous photosensitivity, Increased circulating farnesol...	OMIM:618156
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler...	OMIM:619609
Schimke Immunoosseous Dysplasia	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal immunoglobul...	OMIM:242900
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ...	OMIM:617638
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Edema, Sta...	OMIM:617731
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten...	ORPHA:90041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Limited Cutaneous Systemic Sclerosis	Mucosal telangiectasiae, Telangiectasia of the skin, Pulmonary arterial hypertension	ORPHA:220402
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu...	ORPHA:567544
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dyspla...	OMIM:263200
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Adrenal hypoplasia, Androg...	ORPHA:95409
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Cardiomegaly, Bicuspid ao...	ORPHA:363705
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ...	ORPHA:976
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Premature Ovarian Failure 5	Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr...	ORPHA:70587
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infer...	OMIM:617442
46,Xx Sex Reversal 5	Increased serum testosterone level, Urogenital sinus anomaly, Secundum atrial septal defect, Ambi...	OMIM:618901
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Erdheim-Chester Disease	Congestive heart failure, Abnormal pulmonary interstitial morphology, Abnormal aortic valve morph...	ORPHA:35687
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Malar r...	ORPHA:231111
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Recurrent pneumonia, Atelectasis	OMIM:615294
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Growth delay, Proteinuria, Joint hypermobi...	OMIM:619428
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ...	OMIM:178600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Primary gonadal insufficiency, Retinal detachment, Insulin-resistant diabet...	ORPHA:436182
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla...	OMIM:200700
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Multiple prenatal fractures, Secu...	OMIM:616866
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia, Cardiac arrest, Arrhythmia	ORPHA:168593
Myotonic Dystrophy 2	Decreased circulating total IgM, Right bundle branch block, Insulin insensitivity, Oligozoospermi...	OMIM:602668
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Renal cyst	OMIM:615987
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth...	ORPHA:226313
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Unilateral renal agenesis, Tracheomalacia, Vesicoureteral reflux, Ventric...	OMIM:620654
Verheij Syndrome	Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Short stature, Growth delay, In...	OMIM:615583
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Premature ovarian insufficiency, Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Diabetes ...	OMIM:609286
Aica-Ribosiduria Due To Atic Deficiency	Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremi...	OMIM:608688
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Short stature, Renal hypoplasia, Pulmonary artery stenosis...	ORPHA:75389
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Iron deficiency anemia, Transient ischemic...	ORPHA:2038
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilia, Membranous...	OMIM:618999
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic sten...	ORPHA:2414
Glutaric Aciduria Iii	Goiter, Hypertension, Failure to thrive, Hyperthyroidism	OMIM:231690
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia, Shawl scrotum, ...	ORPHA:2256
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob...	OMIM:617021
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Hypertension, Focal segmental glo...	OMIM:194080
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Death in childhood, Hyperammonemia, Secundum atrial septal defect, Noni...	OMIM:620609
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Intellectual Developmental Disorder, Autosomal Recessive 65	Contracture of the proximal interphalangeal joint of the 4th finger, Hypospadias, Secundum atrial...	OMIM:618109
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Vaginal fistula, Horseshoe kidney, Short stature	OMIM:619318
Idiopathic Pulmonary Arterial Hypertension	Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr...	ORPHA:275766
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Atrial septal defect, Hypertension, Ventricular septal defect	OMIM:613870
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:145260
Meacham Syndrome	Enlarged kidney, Death in infancy, Bicuspid aortic valve, Septate vagina, Congenital alveolar dys...	OMIM:608978
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,...	OMIM:613845
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Acropectorovertebral Dysplasia	Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B...	OMIM:102510
Schimke Immuno-Osseous Dysplasia	Hypertension, Hyperlipidemia, Cerebral ischemia, Bone marrow hypocellularity, Intrauterine growth...	ORPHA:1830
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Clitoral hypertrophy, Hydroureter, Valvular pulmonary stenosis, Craniosyno...	OMIM:300707
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Prolonged QT inter...	OMIM:613327
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglycemia, Decreased circulating carnitine con...	ORPHA:159
Focal Segmental Glomerulosclerosis 9	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:616220
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Muscular ventricular septal defect, Prolonged QT interval, Hypoplasi...	ORPHA:66634
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Hypoplastic pelvis, Metaphyseal irregularity, Shortening o...	ORPHA:750
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Imerslund-Grasbeck Syndrome 2	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria	OMIM:618882
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Gout, Intrauterine ...	OMIM:617056
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Hypertension, Patent foramen ovale, Ventricular s...	OMIM:615474
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Coenzyme Q10 Deficiency, Primary, 2	Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension	OMIM:614651
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Hepatomegaly, Death in childhood, Polyhydramnios, Renal tubular acidosis, Cardiomyopa...	OMIM:614922
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir...	OMIM:605911
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Type I diabetes mellitus, Hypertension	ORPHA:1192
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Pituitary Gigantism	Tall stature, Premature pubarche, Long foot, Increased circulating insulin-like growth factor 1 c...	ORPHA:99725
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Atrioventricular canal defect, Abnormal bladder morphology, Vesicoureteral reflux, Pl...	ORPHA:453499
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Hypertension, Cardiomyopathy, Pericarditis...	ORPHA:767
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impotence, Impaired glucose toleran...	OMIM:606069
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten...	OMIM:615962
Bardet-Biedl Syndrome 2	External genital hypoplasia, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes ...	OMIM:615981
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Pulmonary Alveolar Microlithiasis	Pleural thickening, Exertional dyspnea, Bronchitis, Testicular microlithiasis, Stippled calcifica...	ORPHA:60025
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Glomerulopathy, Hepatomegaly, Hematuria, Emphysema, Inflammatory abnorma...	ORPHA:36412
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Eczematoid dermatitis, Pulmonic stenos...	OMIM:610443
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve, Cryptorchidism, Hypospadias, Decreased testicular size	OMIM:300997
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Fixed Subaortic Stenosis	Exertional dyspnea, Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiom...	ORPHA:3092
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Pituitary Adenoma 1, Multiple Types	Increased circulating prolactin concentration, Hypertension, Pituitary growth hormone cell adenom...	OMIM:102200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Hypertension, Increased serum pyruvate, Hypertrophic cardiomyopathy, Di...	ORPHA:1349
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Death in childhood, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesang...	OMIM:620425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Macroglos...	OMIM:613156
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 37	Infectious encephalitis, Colitis	OMIM:616098
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Renal hypoplasia, Radioulnar synostosis, Patent ductus arteriosus, C...	ORPHA:171839
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Recurrent otitis media, Recurrent respiratory infections, Tubulointerstitial fibrosis, R...	OMIM:607944
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Cutaneous photosensitivity, Pericarditis, Nephritis, Lupus neph...	OMIM:152700
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Patent foramen ovale, Cryptorchidism, Patent ductus arteriosus, Bicusp...	ORPHA:329224
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Irregula...	OMIM:617565
Crome Syndrome	Short stature, Renal tubular epithelial necrosis	OMIM:218900
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Female external genitalia in individual with 46,XY karyotype, Infertility, Male pseudohermaphrodi...	OMIM:264300
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona...	ORPHA:1354
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Progressive psychomotor deterioration, Knee flexion contrac...	ORPHA:3208
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Fused cervical vertebrae, Abnormal renal m...	OMIM:609053
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intracranial hemo...	ORPHA:449285
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Acute kidney injury, Scleritis, Abnormality of the pulmonary vasculature...	ORPHA:93126
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Marden-Walker Syndrome	Postnatal growth retardation, Dextrocardia, Hypospadias, Camptodactyly, Congenital contracture, R...	OMIM:248700
Senior-Loken Syndrome	Premature ovarian insufficiency, Hypertension	ORPHA:3156
Diarrhea 6	Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism	OMIM:614616
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Aortic valve stenosis, Short stature, Patent ductus arteriosus, Bic...	OMIM:243310
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Dyspareunia, Hypertensive crisis, Pulmonary arterial hypertension, Tela...	ORPHA:220393
Syndromic Diarrhea	Hepatomegaly, Gastritis, Aortic regurgitation, Abnormality of iron homeostasis, Panhypogammaglobu...	ORPHA:84064
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Short stature, Oligohydram...	OMIM:251300
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Hypertension...	ORPHA:276621
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Hyperaldosteronism	OMIM:619406
Pseudomyxoma Peritonei	Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Weight...	ORPHA:26790
Isolated Osteopoikilosis	Abnormality of the kidney, Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic fo...	ORPHA:166119
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Glomerular sclerosis, Hypertension, Growth delay, Increased blood urea n...	OMIM:223900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:3268
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:618078
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Cutis marmora...	OMIM:616589
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Hepatomegaly, Death in childhood, Hydrops fetalis, Ascites,...	OMIM:269920
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Pes cavus, Equinovarus deformity, Hypoparathyroidism, Hypoketotic hypog...	ORPHA:746
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia	OMIM:606176
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Pulmonary arterial hypertension	ORPHA:1164
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyop...	OMIM:212140
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Premature Ovarian Failure 8	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:615723
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic ac...	ORPHA:26792
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Meier-Gorlin Syndrome 8	Intrauterine growth retardation, Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis	OMIM:617564
Williams Syndrome	Chronic otitis media, Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension...	ORPHA:904
Meconium Aspiration Syndrome	Pulmonary insufficiency, Maternal diabetes, Pulmonary arterial hypertension, Abnormal heart rate ...	ORPHA:70588
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa...	ORPHA:169160
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pulmonary edema, Pancreatitis, Pleural effusion, H...	ORPHA:188
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k...	OMIM:255120
Burn-Mckeown Syndrome	Unilateral renal agenesis, Short stature, Renal hypoplasia, Atrial septal defect, Ventricular sep...	OMIM:608572
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Recurrent respiratory infections, Respiratory distr...	OMIM:616268
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Familial Cervical Artery Dissection	Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara...	ORPHA:36382
Congenital Gerbode Defect	Congestive heart failure, Elevated right atrial pressure, Elevated jugular venous pressure, Holos...	ORPHA:99095
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Rhizomelia, Elevated circulating creatinine c...	OMIM:614376
Aphalangy-Syndactyly-Microcephaly Syndrome	Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:1113
Narcolepsy Type 1	Syncope, Male sexual dysfunction, Hypertension, Female sexual dysfunction	ORPHA:2073
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Edema, Elevated circulating creatinine concentration, Glomerulonephritis, M...	ORPHA:36234
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the bladder, Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic...	OMIM:265380
Alstrom Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypertension, Atte...	OMIM:203800
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Loeffler Endocarditis	Left atrial enlargement, Endocardial fibrosis, Myocardial eosinophilic infiltration, Abnormal mor...	ORPHA:75566
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Sneddon Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM	OMIM:182410
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Increased body weight, Hyperlipidemia, Cognitive impairment, Abnormal response to c...	ORPHA:189427
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Transient ischemic attack, Pulmonary arteria...	ORPHA:464343
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasa...	OMIM:261740
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Elevated circulating 21-...	OMIM:201910
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypotension, Increased circu...	OMIM:607364
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Osteopenia, Aortic regurgitat...	ORPHA:2326
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Prolonged prothrombin time, Enlarged kidney, Hepatome...	OMIM:276700
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Increased circulating an...	ORPHA:91500
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity...	ORPHA:90673
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du...	ORPHA:1836
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Grange Syndrome	Hypertension, Ventricular septal defect, Aortic regurgitation	ORPHA:79094
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin...	OMIM:263400
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Short stature, Secundum atrial septal defect, Congenita...	OMIM:600987
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Colitis	OMIM:617006
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Hypertension, Short stature, Increased blood urea nitrogen, Hyp...	ORPHA:251004
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Gaucher Disease, Type I	Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epist...	OMIM:230800
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Increased circulating androgen concentration...	ORPHA:1501
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Stiff Skin Syndrome	Abnormal circulating lipid concentration, Lipoatrophy, Retinal detachment, Hypertension, Type II ...	ORPHA:2833
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Type I diabete...	OMIM:615952
Meningococcal Meningitis	Hypothermia, Elevated circulating C-reactive protein concentration, Hypotension, Fever, Increased...	ORPHA:33475
Immunodeficiency, Common Variable, 11	Crohn's disease, Failure to thrive, Mucoid diarrhea, Inflammation of the large intestine	OMIM:615767
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Cardiomyopathy, Dilated, 2D	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Tricuspid regurgitat...	OMIM:619371
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Malar ras...	ORPHA:93552
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Abnormal tricuspid v...	ORPHA:485405
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Abnormal mi...	ORPHA:17
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Gonadal dysgenesis, Decreased circulating IgG level, Secundum atrial septal defect, Abnormal thym...	OMIM:611926
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hydronephrosis, Bicuspid aortic valve, Joint hypermobility, Ventricula...	OMIM:620511
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Ca...	ORPHA:542323
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Distal Deletion 15Q	Postnatal growth retardation, Generalized joint hypermobility, Decreased serum insulin-like growt...	ORPHA:1596
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Hypertension, Sinusitis, Cutis marmorata, Myocarditis, Vasculitis, Transient ischemic ...	ORPHA:183
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Increased circul...	ORPHA:85138
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:614480
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow...	ORPHA:2631
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Concentric hypertrophic cardiomyopathy, Proxi...	ORPHA:550
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia	OMIM:306000
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232200
Partial Atrioventricular Septal Defect	Exertional dyspnea, Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aor...	ORPHA:1330
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Hepatomegaly, Hemolytic-uremic syndrome, Recurrent lo...	OMIM:619644
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol...	OMIM:127300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hypouricemia, Hyperphosphaturia, Glycosuria, Nephrocalcinosis, Proteinuria, Hypopho...	OMIM:616026
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Pelvic kidney, Vesicourete...	OMIM:603467
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Arthritis, Osteolys...	ORPHA:371428
Insulinoma	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neoplasm of the adrenal gland, Increased body we...	ORPHA:97279
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98855
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
Ethanolaminosis	Cardiomegaly	OMIM:227150
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Arrhy...	ORPHA:2928
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Polyhydramnios, Multiple muscular ventricular septal defects, Short stature...	OMIM:620070
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Hypertension...	ORPHA:29072
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Cardiac arrest, Diabetes mellitus, Paroxysmal atrial tachycardia, Atria...	ORPHA:49827
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Coxa vara, Micromelia	ORPHA:168555
Orofaciodigital Syndrome Xvii	Short stature, Renal hypoplasia, Micropenis, Tetralogy of Fallot	OMIM:617926
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas...	OMIM:615954
Sotos Syndrome	Abnormality of the kidney, Muscular ventricular septal defect, Cryptorchidism, Prolonged neonatal...	OMIM:117550
46,Xx Gonadal Dysgenesis	Osteopenia, Gonadal dysgenesis, Premature ovarian insufficiency, Reduced bone mineral density, De...	ORPHA:243
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Short stature, Hypothyroidism, Renal du...	ORPHA:96169
Fabry Disease	Delayed puberty, Abnormal circulating lipid concentration, Reduced bone mineral density, Hyperten...	ORPHA:324
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Gen...	ORPHA:2088
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Restrictive cardiomyopathy, Hypoplasia of the thymus, Right atrial enlargem...	OMIM:619313
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:613101
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Combined Oxidative Phosphorylation Deficiency 30	Decreased liver function, Polymicrogyria, Elevated circulating alanine aminotransferase concentra...	OMIM:616974
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Diabetes mellitus, Secundum atrial septal defect, Recurrent lower respiratory tract i...	OMIM:620194
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Hypertension	OMIM:616069
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Adrenal cortical sclerosis, Skin rash, Chronic mucocutaneous candidiasis, Increased...	OMIM:102700
Potocki-Shaffer Syndrome	Hypertension, Anemia	ORPHA:52022
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Hydrops fetalis, Polyhydramnios, Abnormal cortical bone morphology, Increased bone ...	ORPHA:2204
Congenital Enterovirus Infection	Myocarditis, Hypothermia, Cardiomyopathy, Hypotension, Pleural effusion, Fever, Hyperammonemia, P...	ORPHA:292
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Double Outlet Right Ventricle	Hypoparathyroidism, Hypocalcemia, Truncus arteriosus, Aplasia/Hypoplasia of the thymus, Pulmonic ...	ORPHA:3426
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Pulmonic stenosis, Abnormal pattern of respiration, Patent ductus arteriosu...	OMIM:619149
Illum Syndrome	Calcinosis, Temperature instability, Bradycardia	OMIM:208155
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, Beta 2-m...	ORPHA:97362
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Bicuspid aortic...	ORPHA:1772
Hemochromatosis, Type 1	Congestive heart failure, Increased circulating ferritin concentration, Hepatomegaly, Cardiomyopa...	OMIM:235200
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M...	ORPHA:2249
Smith-Lemli-Opitz Syndrome	Hypertension, Bifid scrotum, Death in infancy, Splenomegaly, Intrauterine growth retardation, Sma...	OMIM:270400
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Gitelman Syndrome	Delayed puberty, Urinary incontinence, Prolonged QT interval, Neoplasm of the pancreas, Renal pot...	ORPHA:358
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Lymphoproliferative Syndrome, X-Linked, 2	Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti...	OMIM:300635
Tularemia	Anemia, Increased circulating antibody level, Leukocytosis, Thrombocytopenia, Tachycardia, Cutane...	ORPHA:3392
Ulnar-Mammary Syndrome	Delayed puberty, Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Cryptorchidism, Short ...	ORPHA:3138
Relapsing Fever	Anemia, Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Epistaxis, Thrombocytopenia, Tachyca...	ORPHA:91547
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Respiratory distress, A...	ORPHA:210122
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Abnormal reproductive system morphology, Abno...	ORPHA:70472
Systemic Lupus Erythematosus 17	Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thrombocytopenia, Lymphopenia, Autoimmune th...	OMIM:301080
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614495
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, Decreased circ...	ORPHA:438213
Frasier Syndrome	Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn...	OMIM:136680
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Hypertriglyceridemia, Reduced bone mineral density, Lipoatro...	ORPHA:79474
Stiff-Person Syndrome	Tachycardia, Diabetes mellitus, Hypertension, Anemia	OMIM:184850
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel...	OMIM:611705
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Ring Chromosome 12 Syndrome	Breast hypoplasia, Glandular hypospadias, Cryptorchidism, Symphalangism of the thumb, Growth dela...	ORPHA:1439
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Hepatomegaly, Cardiomegaly, Hypoglycemia, Pulmonary arterial hypertension, Eleva...	OMIM:614921
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Patent foramen ovale...	OMIM:614868
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98853
Femoral-Facial Syndrome	Abnormal fibula morphology, Maternal diabetes, Inguinal hernia, Long penis, Polycystic kidney dys...	ORPHA:1988
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype...	OMIM:611556
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Andersen-Tawil Syndrome	Torsade de pointes, Abnormal T-wave, Polymorphic ventricular tachycardia, Prolonged QT interval, ...	ORPHA:37553
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria	ORPHA:839
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Hydroureter, Cryptorchidism, Pulmonic stenosis, Short stature, Cutis marm...	OMIM:610759
Cednik Syndrome	Congestive heart failure, Nephrotic syndrome, Short stature, Proteinuria, Hypogonadism	ORPHA:66631
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, Hypotensi...	OMIM:611489
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom...	ORPHA:2741
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Fatty replacement of skeletal muscle, Elevated circulating alkaline pho...	ORPHA:52430
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Hypertension, Increased circulating renin level, Hypomagnesemia, Hyperaldosteronism	OMIM:612780
Lipodystrophy, Partial, Acquired, Susceptibility To	Progressive loss of facial adipose tissue, Hematuria, Loss of truncal subcutaneous adipose tissue...	OMIM:608709
Tetanus	Bradycardia, Hypertension, Elevated circulating creatine kinase concentration, Fever, Tachycardia	ORPHA:3299
Cenani-Lenz Syndactyly Syndrome	Ectopic kidney, Metacarpal synostosis, Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Radio...	OMIM:212780
Polycystic Kidney Disease 5	Hypertension, Hepatosplenomegaly	OMIM:617610
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,...	ORPHA:70475
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc...	ORPHA:753
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly	DECIPHER:46
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno...	OMIM:613313
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetab...	OMIM:256050
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia, Bradycardia	OMIM:614498
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Seizure, Myoclonus	OMIM:615924
Werner Syndrome	Premature graying of hair, Miscarriage, Hypertension, Joint stiffness, Hypogonadism, Thyroid carc...	ORPHA:902
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth	ORPHA:1423
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Down Syndrome	Delayed puberty, Atrioventricular canal defect, Renal hypoplasia/aplasia, Prematurely aged appear...	ORPHA:870
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial f...	ORPHA:137675
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbi...	OMIM:614300
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypokalemia, Hypertension, Abnormal circulating renin, Glucocortocoid-inse...	ORPHA:251274
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl...	OMIM:239200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s...	OMIM:618234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperal...	ORPHA:404
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug...	OMIM:605373
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Prolonged QTc interval, Elbow flexion contracture, EMG: my...	OMIM:619040
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:617690
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect, Polyhydramnios, Renal duplication, Rhizomelic arm shortening	ORPHA:96190
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel...	ORPHA:429
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Cardiomyopathy	ORPHA:53296
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Seborrheic dermati...	ORPHA:567
Alport Syndrome 2, Autosomal Recessive	Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P...	OMIM:203780
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
19P13.12 Microdeletion Syndrome	Deep plantar creases, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Aortic regurgitati...	ORPHA:254346
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Retinal detachment, Patent foramen...	OMIM:607143
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension	OMIM:300887
Sneddon Syndrome	Hypertension, Intracranial hemorrhage	ORPHA:820
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Tall stature, Clitoral hypertrophy, Elevated circulating hepatic transamina...	OMIM:608594
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba...	ORPHA:90795
Distal Duplication 6P	Abnormal lung lobation, Short stature, Renal hypoplasia, Hydronephrosis, Intrauterine growth reta...	ORPHA:1745
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Hypertension, Growth delay, Renal hypoplasia, Hyper...	OMIM:617595
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:168558
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul...	ORPHA:403
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Edema, Vesicoureteral...	OMIM:120330
Overlap Myositis	Hypertension, Pulmonary arterial hypertension, Leukopenia, Raynaud phenomenon, Thrombocytopenia, ...	ORPHA:206572
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Polyhydramnios, Patent foramen ovale, Hypoplastic nipples, Ascites, Re...	OMIM:269860
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Vesicoureteral reflux, Cryptorchidism, Short stature, Joint stiffness, ...	ORPHA:1166
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Tall stature, Clitoral hypertrophy, Elevated circulating hepatic transamina...	OMIM:269700
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, P...	OMIM:618914
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspi...	ORPHA:1120
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re...	OMIM:613960
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
X Small Rings	Premature ovarian insufficiency, Reduced bone mineral density, Osteoporosis, Growth delay, Mitral...	ORPHA:96201
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis	OMIM:619603
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Cryptorchidism, Abnormal c...	OMIM:615009
Cocaine Intoxication	Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki...	ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension	OMIM:619051
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Giant cell hepatitis, Jaundice, Renal tubular acidosis, Death in infancy, Arthrogry...	OMIM:613404
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Propionic Acidemia	Organic aciduria, Cardiomyopathy, Hyperammonemia, Arrhythmia, Hypoglycemia	ORPHA:35
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Hyperlipidemi...	ORPHA:565612
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Secundum atrial septal defect, Ventricular septal defect, Patent...	OMIM:619909
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Pallister-Hall Syndrome	Ectopic kidney, Decreased circulating cortisol level, Intrauterine growth retardation, Decreased ...	OMIM:146510
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Rhizomelic Chondrodysplasia Punctata, Type 3	Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Rhizomelia, Ep...	OMIM:600121
Intellectual Developmental Disorder, X-Linked 112	Ambiguous genitalia, Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicouret...	OMIM:301111
Split-Foot Deformity With Mandibulofacial Dysostosis	Split foot, Toe syndactyly, Micrognathia, Split hand	OMIM:183700
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria	OMIM:245900
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic runs, Myo...	OMIM:160800
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Short stature, Renal hypoplasia, Growth delay, Hypothyroidism, Intrauterine grow...	OMIM:616817
Agnathia-Otocephaly Complex	Situs inversus totalis, Polyhydramnios, Tracheomalacia, Respiratory distress, Secundum atrial sep...	OMIM:202650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Vaginal st...	ORPHA:95455
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Pes cavus, Elevated circulating hepatic transaminase concentration, Hammertoe, Distal amyotrophy,...	OMIM:618400
Foxp1 Syndrome	Diabetes mellitus, Pulmonary arterial hypertension	ORPHA:391372
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Patent ...	ORPHA:505248
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Urinary incontinence, Cardiomyopathy, Impotence, Orthostatic hypotension due to ...	OMIM:105210
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension	OMIM:619064
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Esophagitis, Eosinophilic, 2	Vomiting, Failure to thrive, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Failure to thrive, Esophagitis, Dysphagia	OMIM:610247
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Hyperthyroidism, Familial Gestational	Tachycardia, Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating ...	OMIM:603373
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Death in infancy, Prolonged neonatal jaundice, Intrauterine growth retardation, Oli...	OMIM:210710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Goiter, Hyperthyroidism, Weight loss, Tachycardia, Palpitations	OMIM:188580
Alopecia Universalis	Abnormal circulating lipid concentration, Type I diabetes mellitus, Hypertension, Abnormality of ...	ORPHA:701
Neuroleptic Malignant Syndrome	Hyperkalemia, Hypothermia, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Hypotension, H...	ORPHA:94093
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98863
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Necrotizing Enterocolitis	Neutropenia, Abnormal glucose homeostasis, Bradycardia, Hypotension, Leukocytosis, Hyperglycemia,...	ORPHA:391673
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophili...	ORPHA:139402
Aromatase Deficiency	Osteopenia, Tall stature, Genu valgum, Male infertility, Delayed epiphyseal ossification, Macroor...	ORPHA:91
Postinfectious Vasculitis	Increased circulating antibody level, Abnormal circulating protein concentration, Hypertension, C...	ORPHA:48435
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hypertension, Para...	ORPHA:329918
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hypertension, Ventricular hypertrophy, Abnormal circulating renin, Pulmonary arteria...	ORPHA:369929
Degcags Syndrome	Premature graying of hair, Pulmonic stenosis, Intrauterine growth retardation, Craniosynostosis, ...	OMIM:619488
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Mosaic Monosomy X	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Reduced bone mi...	ORPHA:99228
Monosomy X	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Reduced bone mi...	ORPHA:99226
Turner Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Reduced bone mi...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Reduced bone mi...	ORPHA:99413
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Sepsis In Premature Infants	Hypothermia, Elevated circulating C-reactive protein concentration, Bradycardia, Decreased body w...	ORPHA:90051
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Unilateral renal agenesis, Ectopic kidney, Disproportio...	OMIM:616541
Congenital Disorder Of Glycosylation, Type Iig	Short long bone, Broad femoral neck, Lateral ventricle dilatation, Left ventricular hypertrophy, ...	OMIM:611209
Bresek Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Growth delay, Renal hypoplasia, Decreased testi...	ORPHA:85284
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Hypothermia, Bradycardia, Pitu...	ORPHA:90674
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Hypotension, Hypothyroidism, Pe...	ORPHA:3452
Alg1-Cdg	Abnormality of the kidney, Cardiomyopathy, Limitation of joint mobility, Nephrotic syndrome, Abno...	ORPHA:79327
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Fused cervical vertebrae, Unilateral renal agenesis, Renal ag...	OMIM:619227
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Joint hypermobility, Craniosynostos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Joint hypermobility, Craniosynostos...	ORPHA:363958
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Failure to...	OMIM:618108
Cockayne Syndrome Type 1	Postnatal growth retardation, Progeroid facial appearance, Hepatomegaly, Foot joint contracture, ...	ORPHA:90321
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, D...	ORPHA:355
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ...	ORPHA:470
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Elevated circulating creatinine concentration, Cyanosis, Truncus arteriosus, R...	OMIM:617478
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Purpura, Recurrent respiratory infections, Complete or near-comple...	OMIM:613496
Bardet-Biedl Syndrome 11	Polydactyly, Obesity, Retinopathy, Hypogonadism	OMIM:615988
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Hematuria, Hydrops fet...	ORPHA:77261
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Cerebrofacioarticular Syndrome	Osteopenia, Hypospadias, Tracheomalacia, Lymphedema, Camptodactyly, Pulmonic stenosis, Renal hypo...	ORPHA:314679
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Proximal tubulopathy, Cardiomyopathy, Death in infancy, Pericarditis,...	OMIM:212065
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Angina ...	ORPHA:412
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Increased bone mineral density, Chron...	ORPHA:36913
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Osteoporosis, Pericardial effusion, Congenital hypertrophy of ...	OMIM:239850
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Azoospermia, Hypertension, Hypergonadotropic hypogonadism, Cerebral hemorrhage, ...	ORPHA:280679
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive	OMIM:615863
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Pulmonary arterial hypertension, Thrombocytopenia, Patent ductus arteriosus,...	OMIM:614857
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidn...	OMIM:243910
Feingold Syndrome Type 1	Abnormality of the kidney, Tricuspid atresia, Vesicoureteral reflux, Tricuspid stenosis, Multiple...	ORPHA:391641
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, ...	ORPHA:284169
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive...	ORPHA:79319
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Pancreatic hypoplasia...	ORPHA:99885
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Cognitive impairment, N...	ORPHA:254892
Noonan Syndrome 8	Large for gestational age, Atrial septal defect, Ventricular septal defect, Pleural effusion, Hyp...	OMIM:615355
Liver Disease, Severe Congenital	Left atrial enlargement, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Splenomeg...	OMIM:619991
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglyc...	OMIM:227810
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Vesicoureteral reflux, Eczematoid dermatitis, Pseudohypopara...	ORPHA:464288
Dietary Iron Overload Disease	Abnormal adrenal morphology, Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology...	ORPHA:139507
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia	OMIM:222100
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Percussion myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Myot...	ORPHA:684
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal...	OMIM:601678
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Abnormal tricuspi...	ORPHA:90308
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Cornelia De Lange Syndrome 1	Limited elbow extension, Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypop...	OMIM:122470
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper...	OMIM:145600
Sickle Cell Disease	Hypertension, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Priapism, Increased r...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Hyperammonemia, Hypoglycemia, Ventricular septal ...	OMIM:620454
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Coffin-Siris Syndrome 7	Recurrent otitis media, Polyhydramnios, Patent foramen ovale, Short stature, Oligohydramnios, Bic...	OMIM:618027
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Pigmentary retinopathy, Optic disc pallor,...	ORPHA:79264
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent foramen ovale, Vesicoureteral reflux, Laryngotracheomalacia, Renal cyst, Microphallus, Pul...	OMIM:618454
Lateral Meningocele Syndrome	Neurogenic bladder, Cryptorchidism, Short stature, Sclerosis of skull base, Patent ductus arterio...	OMIM:130720
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortiso...	OMIM:615830
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Mirage Syndrome	Rocker bottom foot, Adrenal insufficiency, Hypospadias, Achalasia, Recurrent bacterial infections...	OMIM:617053
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Charge Syndrome	Delayed puberty, Pulmonic stenosis, Dysplastic tricuspid valve, Decreased response to growth horm...	OMIM:214800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Death in childhood, Camptodactyly, Renal hypoplasia, F...	OMIM:604273
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Respiratory distress, Cardiomyopathy, Dehydration, Hyperammonemia, Sp...	ORPHA:79312
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Williams-Beuren Syndrome	Premature graying of hair, Abnormal renal morphology, Hypertension, Pulmonic stenosis, Early onse...	OMIM:194050
Mungan Syndrome	Perimembranous ventricular septal defect, Vesicoureteral reflux, Tricuspid regurgitation, Pulmoni...	OMIM:611376
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Weight loss, Arrhythmia, Atrioventricular block	ORPHA:85447
Scorpion Envenomation	Prominent U wave, Hypertension, Premature ventricular contraction, Edema, T-wave inversion, Myoca...	ORPHA:466677
Ovarian Dysgenesis 8	Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati...	OMIM:618187
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Anemia of inadequate production, Leukocytosis, Pulmonary arterial h...	ORPHA:231222
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Eosinophili...	ORPHA:2070
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, ...	OMIM:616222
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Death in childhood, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:301108
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia, Bradycardia	OMIM:608800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe...	OMIM:108900
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension	ORPHA:181
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage	OMIM:618886
46,Xy Sex Reversal 4	Distal symphalangism, Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hyper...	OMIM:154230
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cyanosis, Hemorrhagic ovarian cyst, Gingival bleed...	ORPHA:335
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension associ...	OMIM:168000
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Mandibuloacral Dysplasia Progeroid Syndrome	Postnatal growth retardation, Hypertriglyceridemia, Osteopenia, Hepatomegaly, Death in childhood,...	OMIM:619127
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Oligohydramnios, Ketonuria	OMIM:619053
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Premature pubarche, Prolonged QTc interval, Cardiac arrest, Elevated circulating creatine kinase ...	OMIM:616878
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Congestive heart failure, Atrial septal defect, 3-Methylglutaconic aciduria, Prolo...	OMIM:610198
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Limited elbow extension and supination, Truncus arteriosus, Pulmonary artery atre...	ORPHA:401935
Glycogen Storage Disease Ic	Delayed puberty, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreati...	OMIM:232240
Mucolipidosis Type Ii	Cardiomyopathy, Cognitive impairment, Abnormal mitral valve morphology, Splenomegaly, Left ventri...	ORPHA:576
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Cardiomyopathy, Leu...	ORPHA:289157
Atrial Septal Defect 9	Pulmonary arterial hypertension	OMIM:614475
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Joint hypermobility, Bicuspi...	ORPHA:353281
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism	OMIM:614496
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hemorrhage,...	ORPHA:136
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Contractural Arachnodactyly, Congenital	Osteopenia, Limited elbow extension, Knee flexion contracture, Elbow flexion contracture, Wrist f...	OMIM:121050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria	OMIM:612924
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr...	OMIM:614980
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Parag...	ORPHA:94080
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ...	ORPHA:69663
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Fontaine Progeroid Syndrome	Death in infancy, Abnormal heart morphology, Recurrent aspiration pneumonia, Left ventricular hyp...	OMIM:612289
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm...	ORPHA:94089
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Hypertrophic cardiomyopathy, Failure to thrive, Skeletal muscle atrophy, Left vent...	OMIM:618228
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ...	OMIM:202010
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ...	OMIM:614372
Solitary Fibrous Tumor	Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Neoplasm...	ORPHA:2126
Rhabdoid Tumor	Thrombocytopenia, Hypertension, Anemia, Internal hemorrhage	ORPHA:69077
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Classic Galactosemia	Delayed puberty, Reduced bone mineral density, Elevated circulating hepatic transaminase concentr...	ORPHA:79239
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Split-Hand/Foot Malformation 3	Renal hypoplasia, Camptodactyly	OMIM:246560
Diamond-Blackfan Anemia 11	Unilateral renal agenesis, Short stature, Bone marrow hypocellularity, Radioulnar synostosis, Bic...	OMIM:614900
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Bifid scrotum, Short stature, Renal hypoplasia, Hypothyroidism, Telangiectas...	ORPHA:85321
Eisenmenger Syndrome	Exertional dyspnea, Aortopulmonary window, Ascites, Left-to-right shunt, Hypoxemia, Abnormal hear...	ORPHA:97214
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Elevated c...	OMIM:612885
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Camptodactyly, Cryptorchidism, Pulmonic stenosis, Growth delay, Hyd...	OMIM:179613
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Hypertension, Proteinuria, Sta...	OMIM:612925
Combined Oxidative Phosphorylation Deficiency 38	Failure to thrive, Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:618378
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Trisomy X	Premature ovarian insufficiency, Renal hypoplasia/aplasia, Secondary amenorrhea, Precocious puber...	ORPHA:3375
Myh9-Related Disease	Renal insufficiency, Spontaneous, recurrent epistaxis, Menorrhagia, Nephritis, Proteinuria, Bruis...	ORPHA:182050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Death in infancy, Hyperammonemia, Cardiomegaly, Elevated c...	OMIM:608836
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Fabry Disease	Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Arrhy...	OMIM:301500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra...	OMIM:602522
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm...	OMIM:613854
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemia, Abnormal...	OMIM:307800
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia, Abnormal heart morphology, Radial club hand	OMIM:276950
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Fused cervical vertebrae...	ORPHA:508498
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal...	OMIM:163400
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Elevated circulating C-reactive protein concentration, Hypertension, Gro...	OMIM:614034
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomega...	ORPHA:465508
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Nephrosialidosis	Death in childhood, Renal insufficiency, Ascites, Nephrotic syndrome, Pericardial effusion, Nephr...	OMIM:256150
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Hypotension, Nephr...	ORPHA:85445
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Hypoxemia, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:2847
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis, Tapered finger	ORPHA:85274
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia, Tricuspid regurgitation	OMIM:600151
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Recurrent pharyngitis, Hypotension, Hepatitis, Pe...	ORPHA:549
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t...	ORPHA:370010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612926
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash...	ORPHA:900
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Cardiac Valvular Dysplasia, X-Linked	Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T...	OMIM:314400
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertension, Ventricular h...	ORPHA:363618
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Abnormally loud pulmonic component of the second heart s...	OMIM:615342
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Maternal diabetes, Abnormal tricuspid valve morphology	ORPHA:1208
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ...	ORPHA:90033
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Short stature, Mitral stenosis, A...	OMIM:617660
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec...	OMIM:616812
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Hypertension, Metatarsal osteolysis, Protei...	OMIM:166300
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia	OMIM:615026
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Hepatomegaly, Recurrent otitis media, Osteoporosis, Bile duct prolife...	OMIM:619525
Rabson-Mendenhall Syndrome	Increased circulating androgen concentration, Increased serum testosterone level, Postprandial hy...	ORPHA:769
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonic stenosis, Congenital malformation of the left heart, ...	ORPHA:3455
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Endocardial Fibroelastosis	Congestive heart failure, Sandal gap, Hypoplasia of penis, Anterior hypopituitarism, Restrictive ...	ORPHA:2022
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Brain-Lung-Thyroid Syndrome	Megacystis, Abnormal cardiac septum morphology, Hypospadias, Patent foramen ovale, Pulmonary arte...	ORPHA:209905
Laron Syndrome	Short long bone, Limb undergrowth	OMIM:262500
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia	ORPHA:89937
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Obesity, Hypoalbuminemia, Increased alpha-gl...	ORPHA:86816
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Sandal gap, Disproportionate tall stature, Mitral...	ORPHA:230851
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hy...	ORPHA:752
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger	ORPHA:376
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Elevated circulating hepatic transaminase ...	ORPHA:110
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Dyspnea, Hepatosplenomegaly, Pulmonary fibrosi...	ORPHA:99931
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease...	OMIM:618841
Pierson Syndrome	Death in childhood, Hypertension, Hypoproteinemia, Retinal hemorrhage, Nephrotic syndrome, Diffus...	OMIM:609049
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-...	ORPHA:729
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Adrenal calcification, Hypercholesterolemia	ORPHA:75234
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Recurrent lower respiratory tract infections, Hypokalemia, Hypocalcemia, ...	OMIM:617913
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Limb undergrowth, Bowing of the legs	ORPHA:156728
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Cyanosis, Abnormal concentration of ac...	ORPHA:391428
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr...	OMIM:620067
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef...	ORPHA:99050
Jeune Syndrome	Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:474
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Postnatal growth retardation, Pulmonary edema, Hepatomegaly, Peripheral ...	ORPHA:75249
Placental Insufficiency	Insulin resistance, Abnormal heart morphology, Small for gestational age	ORPHA:439167
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint hypermobility, Abnormal renal morphology, Patent foramen ovale, Abnormal heart morphology, ...	ORPHA:477817
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency	ORPHA:254857
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Premature ovarian insufficiency, Pedal edema	ORPHA:75325
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Lujo Hemorrhagic Fever	Bradycardia, Skin rash, Cerebral edema, Oliguria, Excessive bleeding after a venipuncture, Myocar...	ORPHA:319213
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Recurrent otitis media, Tarsal synostosis, Fused cervical ver...	OMIM:157800
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Nephronophthisis 2	Hyperkalemia, Situs inversus totalis, Pulmonary insufficiency, Enlarged kidney, Hypertension, Ele...	OMIM:602088
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Pulmonary sequestration, Short stature, Patent ductus arteriosus, Atrial septal defe...	OMIM:618330
Hemochromatosis, Type 3	Cirrhosis, Anemia, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevate...	OMIM:604250
Paroxysmal Hemicrania	Conjunctival hyperemia, Diabetes mellitus, Hypertension, Focal sensory seizure with olfactory fea...	ORPHA:157835
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Intellectual Developmental Disorder, Autosomal Dominant 72	Renal hypoplasia, Shawl scrotum, Micropenis	OMIM:620439
Smooth Muscle Dysfunction Syndrome	Dysgyria, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis, Patent ductus arteriosus	OMIM:613834
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Short long bone, Camp...	OMIM:113000
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Hydroureter	OMIM:616367
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Elbow flexion contracture, Shortening of all ...	OMIM:616809
Riboflavin Transporter Deficiency	Hypertension, Hypogonadism	ORPHA:97229
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Wells Syndrome	Eosinophilia	ORPHA:901
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatre...	ORPHA:31824
Graft Versus Host Disease	Fasciitis, Limited elbow movement, Dupuytren contracture, Jaundice, Elevated circulating hepatic ...	ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate...	OMIM:612201
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Giant cell hepatitis, Jaundice, Renal tubular acidosis, Patent foramen ovale, ...	OMIM:208085
Alagille Syndrome 1	Hypertriglyceridemia, Atrial septal defect, Hypercholesterolemia, Duplicated collecting system, R...	OMIM:118450
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ...	ORPHA:2302
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced bone minera...	ORPHA:2235
Premature Ovarian Failure 7	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612964
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:300049
Meckel Syndrome 14	Pneumothorax, Polycystic kidney dysplasia, Aplasia of the uterus, Tricuspid regurgitation, Increa...	OMIM:619879
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Congestive heart failure, Myocardial infarction	OMIM:176670
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Eleva...	OMIM:229070
Acrocapitofemoral Dysplasia	Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarp...	ORPHA:63446
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger...	OMIM:601356
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Muscular ventricular s...	OMIM:618804
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Hydrops fetalis, Cardiomegaly, Recurrent lower respirator...	OMIM:253250
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Babesiosis	Congestive heart failure, Hepatomegaly, Jaundice, Recurrent pharyngitis, Limitation of joint mobi...	ORPHA:108
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Cutaneous syndactyly, Clinod...	ORPHA:166024
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Decreased numbers of nephrons, Atretic vas ...	OMIM:137920
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
High Altitude Pulmonary Edema	Tachycardia, Leukocytosis	ORPHA:330012
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen concentr...	ORPHA:264675
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p...	ORPHA:380
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovary, Abnormal heart morphology, ...	ORPHA:79328
Senior-Loken Syndrome 9	Polydactyly, Osteopenia, Nephronophthisis, Retinal dystrophy, Macular degeneration, Cholestasis, ...	OMIM:616629
Menkes Disease	Hypothermia, Decreased circulating ceruloplasmin concentration, Intracranial hemorrhage	OMIM:309400
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Cystinosis	Hypokalemia, Nephropathy, Portal hypertension, Proteinuria, Hypophosphatemia, Type I diabetes mel...	ORPHA:213
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria,...	ORPHA:416
Immunodeficiency 70	Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis	OMIM:618969
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ...	OMIM:619281
X-Linked Sideroblastic Anemia	Glucose intolerance, Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Skin rash, Ileal ulcer, Anterior uveitis	OMIM:616744
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure	OMIM:178400
Ddost-Cdg	Osteopenia, Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Recu...	ORPHA:300536
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Pulmonary Hypertension, Primary, 3	Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h...	OMIM:615343
Aortic Arch Interruption	Exertional dyspnea, Blood pressure substantially higher in arms than legs, Aortopulmonary window,...	ORPHA:2299
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Renal age...	OMIM:264480
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Neuraminidase Deficiency	Hepatomegaly, Hydrops fetalis, Epiphyseal stippling, Cardiomyopathy, Ascites, Short stature, Urin...	OMIM:256550
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem...	ORPHA:99827
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, Abnormal heart morphology, Abnormality of the thyroi...	OMIM:182290
Hardikar Syndrome	Hematemesis, Hypertension, Prolonged neonatal jaundice, Splenomegaly, Jaundice, Cholangitis, Pate...	OMIM:301068
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Obesity, Epistaxis, Hematochezia, Hypercalcemia, Insulin resist...	ORPHA:96168
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Nocturnal hypoventilation, Lambdoidal craniosynostosis, Supernumerary nipple, Cranios...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Nocturnal hypoventilation, Lambdoidal craniosynostosis, Supernumerary nipple, Cranios...	ORPHA:453504
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hepatomegaly, Dextrocardia, Hypokalemia, Hypertension, Elevated circulati...	OMIM:613095
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic transaminase concentra...	ORPHA:79240
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Respiratory distress, Tracheobronchomalacia, Pulmonary sequestration, Dys...	ORPHA:70589
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Severe postnatal growth retardation, Patent foramen ovale, Pulmo...	OMIM:620005
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Cranioectodermal Dysplasia 1	Hepatomegaly, Rhizomelia, Recurrent respiratory infections, Hypocalcemia, Ectodermal dysplasia, S...	OMIM:218330
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Tricuspid regurgit...	OMIM:618460
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Joubert Syndrome 22	Intrauterine growth retardation, Renal hypoplasia	OMIM:615665
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Anasarca, Nephropathy, Pleural effusion, Focal segmental glomerulosclerosis, Neph...	OMIM:254900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Increased circulating chylomicron concentration, Hyperl...	ORPHA:444490
Acrocephalopolydactyly	Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Hypo...	ORPHA:98850
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Growth delay, Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Infantile Systemic Hyalinosis	Osteopenia, Abnormality of the adrenal glands, Steatorrhea, Recurrent bacterial infections, Osteo...	ORPHA:2176
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, R...	ORPHA:673
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis	OMIM:604416
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cognitive impairment, Increased circulating lactate dehydrogenase concentration, Left ventricular...	ORPHA:365
Acute Interstitial Pneumonia	Peripheral edema, Elevated circulating creatinine concentration, Atelectasis, Elevated circulatin...	ORPHA:79126
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Eczematoid dermatitis, Short stature, Bicuspid aortic valve, Joint hypermobility, Atrial septal d...	OMIM:619721
Glycogen Storage Disease Ixb	Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia	OMIM:261750
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Prolonged neonatal jaundice, Splenomegaly, Joint...	OMIM:619418
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum...	ORPHA:957
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ...	ORPHA:75565
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hypospadias, Bifid scrotum, Small thenar eminence, Camptodactyly, Cryp...	OMIM:619148
Sclerosteosis	Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ...	ORPHA:3152
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo...	OMIM:300845
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Adrenogenital syndrome	OMIM:202110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent...	OMIM:201475
East Syndrome	Increased circulating renin level, Hypokalemia, Hypomagnesemia, Hyperaldosteronism	ORPHA:199343
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Tall stature, Pancreatitis, Inguinal hernia, Homocystinuria, Reduced cystathionine beta-synthase ...	OMIM:236200
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Cardiomyo...	OMIM:602390
Polycystic Ovary Syndrome 1	Oligomenorrhea, Amenorrhea	OMIM:184700
Antisynthetase Syndrome	Myocarditis, Telangiectasia of the skin, Aortic regurgitation, Pulmonary arterial hypertension	ORPHA:81
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Cryptorchidism, Growth delay, Precocious puberty, ...	ORPHA:3306
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal...	OMIM:241200
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Atrial septal defect, Short greater sciatic notch, Wide anterior ...	ORPHA:1860
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Increased circulating lactate dehydrogenase concentration, Acu...	OMIM:278000
Fish-Eye Disease	Angina pectoris, Splenomegaly	ORPHA:79292
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Cystinosis, Nephropathic	Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney disease, Reduce...	OMIM:219800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Thyroid hypoplasia, Unicornuate uterus, Joint hyperm...	OMIM:619503
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Abnormal left ventricular function, Hypospadias, Duplicated collecting system, Poly...	OMIM:301056
Alveolar Echinococcosis	Liver abscess, Anemia, Jaundice, Cholangitis, Abnormal spleen morphology, Biliary cirrhosis, Port...	ORPHA:284
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Splenomegaly, Hyperammonemia	ORPHA:664
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Respi...	OMIM:251000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Failure to thrive, Hyperglycinemia, Hypothermia	OMIM:245400
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Failure to thriv...	OMIM:614602
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab...	ORPHA:2470
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Combined Oxidative Phosphorylation Deficiency 24	Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis	OMIM:616239
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Short stature, Renal hypoplasia, Proteinuria, Cryptorchidism, Renal insufficiency	ORPHA:1307
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta...	OMIM:606966
Osteochondrosis Of The Metatarsal Bone	Arthritis, Chondritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Pedal ...	ORPHA:564003
Avian Influenza	Pneumothorax, Acute kidney injury, Congestive heart failure, Myelitis, Elevated circulating C-rea...	ORPHA:454836
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle...	ORPHA:86812
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Pulmonic stenosis, Eosinophilia, Atrial septal defect, Cutaneous abscess	OMIM:618282
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Mogs-Cdg	Hypoventilation, Pulmonary edema, Hepatomegaly, External genital hypoplasia, Polyhydramnios, Resp...	ORPHA:79330
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Knee di...	OMIM:245600
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentr...	OMIM:610717
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Premature ovarian insufficiency, Hypospadias, Impaired T cell function, Aortic v...	OMIM:176690
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, P...	OMIM:270100
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Acne, Increased bone mineral density, Synovitis, Microscopic hematu...	ORPHA:77297
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Hyperbilirubinemia, Elevated circulating long ...	OMIM:614886
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Adrenal insuff...	ORPHA:251076
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
12Q14 Microdeletion Syndrome	Ectopic kidney, Osteopoikilosis, Short stature, Renal hypoplasia, Intrauterine growth retardation...	ORPHA:94063
Braddock Syndrome	Pulmonary arterial hypertension	ORPHA:52047
Keutel Syndrome	Pulmonary arterial hypertension	ORPHA:85202
Osteomesopyknosis	Increased bone mineral density, Infertility	OMIM:166450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Dyspnea, Decreased serum creatinine, Proteinuria, Arrhythmia, Ren...	ORPHA:54057
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hyperuricemia, Hyperalaninemia, Neonat...	ORPHA:348
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Short stature	OMIM:615802
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Odontochondrodysplasia 1	Nephronophthisis, Mesomelic short stature, Respiratory distress, Polycystic kidney dysplasia, Del...	OMIM:184260
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,...	ORPHA:1406
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ...	OMIM:185500
Poems Syndrome	Erectile dysfunction, Increased circulating antibody level, Abnormality of the endocrine system, ...	ORPHA:2905
N-Acetylglutamate Synthase Deficiency	Hypothermia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Failure to thrive, Low plasma ci...	OMIM:237310
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Chondritis, Sc...	ORPHA:566943
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Elevated circulating phytanic acid concentration, Arrhy...	OMIM:266500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Intra...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Intra...	ORPHA:353277
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j...	OMIM:274150
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Respiratory distress, Renal...	OMIM:231680
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Tachycardia, Infertility, Dyspareunia, Dysmenorrhea, Syncope	ORPHA:71273
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:2902
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level, Multiple muscular ventricular ...	OMIM:615508
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo...	OMIM:208000
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Noonan Syndrome 2	Atrioventricular canal defect, Polyhydramnios, Palmoplantar cutis laxa, Patent foramen ovale, Car...	OMIM:605275
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Renal insufficiency, Vesicoureteral reflux, Cryptorchidism, Short statu...	OMIM:617159
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Nephroblastoma	Hypertension, Weight loss	ORPHA:654
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized...	OMIM:600785
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Leptin Deficiency Or Dysfunction	Recurrent ear infections, Decreased serum leptin, Decreased testicular size, Obesity, Recurrent p...	OMIM:614962
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Stiff Skin Syndrome	Elbow flexion contracture, Camptodactyly, Short stature, Knee flexion contracture, Bicuspid aorti...	OMIM:184900
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Cardiomyopathy, Renal cyst, Growth delay, Hypothyroidi...	ORPHA:445038
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Chondrodysplasia, Blomstrand Type	Stillbirth, Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossification...	OMIM:215045
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Premature ovarian insufficien...	ORPHA:96179
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Left ven...	ORPHA:308552
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure, Polyhydramnios, Diabetes insipidus, Nephrocalcinosis, Joint hypermobili...	ORPHA:500533
Pigmented Nodular Adrenocortical Disease, Primary, 2	Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Hyperten...	OMIM:610475
Tenorio Syndrome	Osteopenia, Hypoinsulinemia, Enuresis, Recurrent pneumonia, Raynaud phenomenon, Syncope, Joint hy...	OMIM:616260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Early ossification of capital femoral epiphyses, Pancreatic cy...	OMIM:208500
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Microsporidiosis	Adrenocortical abnormality, Bronchitis, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchi...	ORPHA:2552
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short stature	OMIM:617450
3-Hydroxy-3-Methylglutaric Aciduria	Hypothermia, Hyperuricemia, Cardiac arrest, Hypotension, Fever, Hyperammonemia, Weight loss, Dila...	ORPHA:20
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Epistaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections	ORPHA:922
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Unilatera...	OMIM:614576
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Obesity, Ach...	OMIM:615418
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial ...	OMIM:616022
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Absence of pubertal development, Elevat...	OMIM:273250
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ...	ORPHA:2484
Gapo Syndrome	Breast hypoplasia, Hepatomegaly, Tubulointerstitial fibrosis, Hypoplastic nipples, Prominent scal...	OMIM:230740
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hypoalbuminemia	OMIM:618329
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:95619
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Hyperlipidemia, Portal hypertension, Splenomegaly	ORPHA:1414
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr...	ORPHA:247598
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Atelosteogenesis Type Ii	Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E...	ORPHA:56304
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis	OMIM:604571
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Foot joint contracture, Short stature	OMIM:619641
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Renal...	OMIM:607323
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Recurrent urinary tract infections, Finger joint contracture, Symphalangism of the thumb, Increas...	OMIM:620494
Vici Syndrome	Cardiomyopathy, Abnormal thymus morphology, Left ventricular hypertrophy, Hypopigmentation of the...	OMIM:242840
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Failure to th...	OMIM:613205
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Abnormal pancreatic du...	ORPHA:1190
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia	OMIM:604484
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Hematuria, Death in infancy, Short stature, Proteinuria, Ventricular septal d...	OMIM:616901
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res...	ORPHA:88630
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Arthritis, Aortic regurgitation, Spontaneous pneumothorax	OMIM:619825
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Abnormal tricuspid valve morphology	ORPHA:199276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Retinal detachment, Type II lissencephaly, Agyria, Simplified gyral pattern, ...	OMIM:613153
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Cognitive ...	ORPHA:444013
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, ...	ORPHA:73224
Li-Campeau Syndrome	Patent foramen ovale, Cryptorchidism, Short stature, Hypothyroidism, Patent ductus arteriosus, At...	OMIM:619189
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess...	ORPHA:411696
Thanatophoric Dysplasia, Type Ii	Short greater sciatic notch, Flared metaphysis, Short ribs, Hypoplastic ilia, Micromelia, Neonata...	OMIM:187601
Extracranial Carotid Artery Aneurysm	Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Total anomalous pulmonary venous return, ...	ORPHA:494424
Coccidioidomycosis	Abnormality of the endocrine system, Skin rash, Cerebral ischemia, Pericarditis, Erythema nodosum...	ORPHA:228123
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hypoglycemia, Hyponatremia, Hypercalcemia, E...	ORPHA:199299
Short Syndrome	Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H...	OMIM:269880
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, Br...	OMIM:218700
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Missing ribs, Mic...	ORPHA:1801
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Hypertension, Ascites, Portal hypertension, I...	ORPHA:84081
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest...	ORPHA:633
D-Glyceric Aciduria	Hypoglycemia, Patent ductus arteriosus, Bradycardia	OMIM:220120
48,Xxyy Syndrome	Tall stature, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Talipes, Joint hyperm...	ORPHA:10
Variant Abeta2M Amyloidosis	Abnormal salivary gland morphology, Reduced left ventricular ejection fraction, Cardiac amyloidos...	ORPHA:314652
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology, Increased serum pyruvate, Recurrent aspiration pneumonia, ...	ORPHA:79243
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Oligohydramnios, Vaginal atresia...	OMIM:616258
Porphyria, Acute Intermittent	Tachycardia, Reduced erythrocyte porphobilinogen deaminase activity, Hypertension	OMIM:176000
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Recurrent re...	OMIM:619468
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia	ORPHA:2089
Tetrasomy 5P	Congestive heart failure, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Retinopathy, Cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy	OMIM:615119
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormal heart morphology, Abnormal...	ORPHA:1666
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Shor...	OMIM:151210
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, External genital hypoplasia, Jaundice, Small scrotum, Diabetes mellitus, Hypogonadism...	OMIM:614231
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Relapsing Polychondritis	Inflammatory abnormality of the eye, Pericarditis, Myocarditis, Recurrent aphthous stomatitis, Dy...	ORPHA:728
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Cardiomyopathy, Elevated circulating creatin...	ORPHA:324525
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl...	ORPHA:79106
Coach Syndrome 2	Elevated circulating creatinine concentration, Hypertension	OMIM:619111
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hydrops fetalis, Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Short stature, Re...	OMIM:614091
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Ischemic stroke, Exertional dyspnea, Cardiomegaly, Aortic regurgitation, Hypertensi...	ORPHA:91387
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Increa...	OMIM:620366
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial...	OMIM:613874
Hurler-Scheie Syndrome	Splenomegaly, Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension	OMIM:607015
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Vasculitis, Recurrent streptococcus p...	OMIM:610984
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Unilateral renal agenesis, Respiratory distress, Subarterial ventricu...	ORPHA:99646
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Adipose tissue loss, P...	OMIM:246200
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Skin rash, Sinusitis, Pericarditis, Cutis marmorata, Epistaxis, Olig...	ORPHA:727
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Dextrocardia, Joint hypermobility, Osteoporosis, Fragile skin, Short stature, Poor wo...	ORPHA:536545
Retinitis Pigmentosa 59	Hepatomegaly, Cystoid macular edema, Micropenis, Intrauterine growth retardation, Cryptorchidism,...	OMIM:613861
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Irregular menstruation, Pulmonary arterial hypertension, Brain abscess	OMIM:616482
Prader-Willi Syndrome	Delayed puberty, Hypertriglyceridemia, Radial deviation of finger, Syndactyly, Small scrotum, Cli...	OMIM:176270
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S...	OMIM:609638
Igg4-Related Aortitis	Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration	ORPHA:449400
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Unilateral renal agenesis, Hypospadias, Hypoplasia of th...	OMIM:151100
Frank-Ter Haar Syndrome	Osteopenia, Patent foramen ovale, Osteoporosis, Camptodactyly, Growth delay, Cortical irregularit...	OMIM:249420
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Tracheomalacia, Respiratory distress, Nephrobl...	OMIM:608022
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Ventricular septal defect, Crossed fused renal ectopia, Patent ductus ...	OMIM:618142
48,Xxxy Syndrome	Tall stature, Hypoplasia of penis, Hypogonadism, Small scrotum, Abnormal epiphysis morphology, Jo...	ORPHA:96263
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Reduced bone mineral density, Decreased circulating t...	OMIM:620210
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis...	OMIM:267700
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Recur...	OMIM:252920
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal...	OMIM:219080
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Abnormal vagina morpholo...	ORPHA:2123
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Hypospadias, Increased bone mineral density, Abnormal heart valve morphology, ...	ORPHA:90652
Trisomy 13	Abnormal lung lobation, Hydrops fetalis, Abnormality of the ureter, Cryptorchidism, Hydronephrosi...	ORPHA:3378
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide...	ORPHA:440354
Q Fever	Increased circulating antibody level, Pericarditis, Splenomegaly, Cholecystitis, Myocarditis, Mac...	ORPHA:781
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Epidermolysis Bullosa Simplex With Pyloric Atresia	Polyhydramnios, Glomerular sclerosis, Skin fragility with non-scarring blistering, Aplasia of the...	ORPHA:158684
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h...	ORPHA:758
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Prolonged QT interval, Hypertension, Abnormal platelet function, De...	ORPHA:79443
Desmosterolosis	Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Renal agenesis, Growth d...	ORPHA:35107
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pigmentary ...	OMIM:264470
Frontometaphyseal Dysplasia 2	Delayed puberty, Fused cervical vertebrae, Neurogenic bladder, Patent foramen ovale, Camptodactyl...	OMIM:617137
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Phimosis, Short stature, Chordee, Secundum atrial septal defect, Patent ductus a...	OMIM:620455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, Secundum atrial septal defect	OMIM:620242
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Multiple Endocrine Neoplasia, Type Iia	Pheochromocytoma, Thyroid C cell hyperplasia, Hypertension, Elevated circulating calcitonin conce...	OMIM:171400
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Increased serum testosterone level, Long penis, Prematurely ag...	OMIM:264090
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf...	ORPHA:99879
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Cognitive impairment, Hypogonadism, Hypothalamic lu...	ORPHA:398069
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension	OMIM:106700
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Distal lower limb muscle weakness, Decreased cervical spine flexion due to contractures of poster...	ORPHA:254361
Dohle Bodies And Leukemia	Secundum atrial septal defect, Lymphedema	OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ...	OMIM:277400
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc...	ORPHA:157215
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Renal insufficiency	ORPHA:3327
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentration, Psoriasiform...	ORPHA:37042
Cockayne Syndrome Type 3	Premature graying of hair, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Increased blood ...	ORPHA:90324
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Hepatomegaly, Ascites, Camptodactyly, Death in infancy,...	OMIM:608104
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Joint hyp...	ORPHA:1475
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Pes cavus, ...	ORPHA:168563
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension	ORPHA:447980
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,...	ORPHA:3210
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Congestive heart failure, Multiple bladder diverticula, Emphysema, Pathologic fract...	ORPHA:90349
Coxoauricular Syndrome	Abnormal femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia	ORPHA:1508
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block, Ventricular septal hypertrophy, Insulin resis...	OMIM:619322
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia	OMIM:141000
Intellectual Developmental Disorder, Autosomal Recessive 73	Osteopenia, Ventricular septal defect, Patent ductus arteriosus	OMIM:619717
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Purpura, Hematuria, Vasculitis, Arthritis, Proteinuria, Renal insufficiency	ORPHA:375
Sheehan Syndrome	Amenorrhea, Orthostatic hypotension, Normochromic anemia, Bradycardia, Dyspareunia, Impotence, Ol...	ORPHA:91355
Dpm1-Cdg	Optic atrophy, Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:79322
Blue Diaper Syndrome	Blue urine, Increased proinsulin:insulin ratio, Nephrocalcinosis, Hypercalcemia, Recurrent hypogl...	ORPHA:94086
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f...	OMIM:619343
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Disproportionate short-limb short stature, Hypoplasia of penis, Cryptorchidi...	ORPHA:2772
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension	OMIM:612387
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiac ar...	OMIM:617713
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Erythema, Dysuria, Dyspareunia, Dyspnea, Abnormal myoc...	ORPHA:36426
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Nephronophthisis 18	Hypertension	OMIM:615862
Free Sialic Acid Storage Disease	Hepatomegaly, Reduced bone mineral density, Hydrops fetalis, Ascites, Nephrotic syndrome, Splenom...	ORPHA:834
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypospadias, Hypertension, Camptodactyly, Short stature, Mitral valve prola...	OMIM:611962
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Muscular ventricular septal defect, Hydrocele testis	OMIM:620062
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
Lead Poisoning	Delayed puberty, Cranial hyperostosis, Decreased HDL cholesterol concentration, Decreased male li...	ORPHA:330015
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Dyspnea, Tricuspid regurgitation, Right atrial enl...	ORPHA:555877
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev...	OMIM:228300
Familial Cerebral Saccular Aneurysm	Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage	ORPHA:231160
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Alpha-N-Acetylgalactosaminidase Deficiency	Vascular skin abnormality, Lymphedema, Recurrent pneumonia, Cardiomegaly, Oligosacchariduria	ORPHA:3137
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic tr...	OMIM:619013
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Rhizomelia, Unicoronal synostosis, Renal cyst, Renal hypoplasia, Pulmonary hypoplasia...	OMIM:616300
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Unilateral renal agenesis, Vesicoureteral reflux, Growth delay...	ORPHA:2512
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Cyanosis, Hypertrophic cardiomyopathy, Respiratory distress	ORPHA:91130
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia	OMIM:229700
Cholera	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypovolemic shock, Hypotension, Hypo...	ORPHA:173
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Death in infancy, Cryptorchidism, Neonatal death, Ventricular septa...	OMIM:613730
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Short stature, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidn...	OMIM:617914
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Aorti...	ORPHA:117
Myotubular Myopathy With Abnormal Genital Development	Ambiguous genitalia, male, Polyhydramnios, Atelectasis, Hypospadias, Respiratory distress, Glandu...	OMIM:300219
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Cardiomyopathy, Dehydration, Hyperammonemia, Renal insufficiency	ORPHA:27
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Hypertension, Hypotension, Hyperammonemia, Hyperglycemia, Weight los...	ORPHA:134
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Nephronophthisis	Renal insufficiency	ORPHA:655
Cerebrooculofacioskeletal Syndrome 1	Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co...	OMIM:214150
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Secondary amenorrhea, Seborrheic dermatitis, Pa...	ORPHA:488618
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria	OMIM:615605
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Miscarriage, Renal cyst, Death in infancy, Short stature, Hydronephr...	OMIM:613390
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting	OMIM:193100
Hyperoxaluria, Primary, Type I	Hematuria, Pathologic fracture, Calcium oxalate nephrolithiasis, Increased bone mineral density, ...	OMIM:259900
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan...	OMIM:180870
Hepatic Veno-Occlusive Disease	Jaundice, Hepatomegaly, Ascites, Increased total bilirubin, Renal insufficiency	ORPHA:890
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal heart morphology, Intrauterine growth retardation, Joint hy...	ORPHA:508488
Familial Spontaneous Pneumothorax	Pneumothorax, Abnormal pleura morphology	ORPHA:2903
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid r...	OMIM:619167
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Prolonged QT interval, Hypocal...	ORPHA:79444
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Recurrent bacterial infections, Progressive neurologic deterioration	OMIM:607624
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Hypophosphatemia, Chronic kidney disease,...	ORPHA:469
Hughes-Stovin Syndrome	Vasculitis, Pulmonary embolism, Pulmonary arterial hypertension	ORPHA:228116
Familial Mediterranean Fever	Pancreatitis, Erythema, Pedal edema, Pleuritis, Vasculitis, Skin rash, Arthritis, Ascites, Nephro...	ORPHA:342
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Limited hip extension, Recurrent otitis me...	OMIM:100800
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und...	OMIM:618961
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Attention deficit hyperactivity disorder, Foot polydactyly, Preaxial hand poly...	ORPHA:210548
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Abnormal foot morphology, Reduced bone mineral density, Smal...	ORPHA:94068
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Mesomelia-Synostoses Syndrome	Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa...	ORPHA:2496
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Goodpasture Syndrome	Cyanosis, Reticular pattern on pulmonary HRCT, Exertional dyspnea, Glomerular crescent formation,...	OMIM:233450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Hypospadias, Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, De...	OMIM:220111
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Palpebral edema, Unilateral renal agenesis, Breast aplasia, Cutaneous p...	OMIM:181270
Encephalitis Lethargica	Increased circulating antibody level, Bradycardia	ORPHA:83600
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of thyroid physiology, Recurrent respiratory infections, Respiratory distress, Unilat...	OMIM:300968
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Hypop...	OMIM:241530
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Wrist flexion contrac...	ORPHA:1143
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Elevated circulating creatine kinase concentration, Unilateral renal hypop...	OMIM:619955
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria	ORPHA:882
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement...	OMIM:104200
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia	OMIM:255700
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Cranioectodermal Dysplasia 2	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hypertension, Cholestas...	OMIM:613610
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ...	ORPHA:1209
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Truncal obesity, Precocious puberty, Obesity, Hypercholeste...	ORPHA:96184
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Edema, Proteinuria	OMIM:614652
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Orthostatic hypotension, Loss of subc...	OMIM:606721
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Anemia, Cerebral hemorrhage	OMIM:614514
Eng-Strom Syndrome	Arthritis, Short stature, Camptodactyly of finger, Intrauterine growth retardation, Ventricular s...	ORPHA:1937
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Abnormal heart morpholog...	ORPHA:79282
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ...	OMIM:618805
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, T...	ORPHA:73272
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Congestive heart failure, Increased circulating free T3, ...	ORPHA:525731
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections	OMIM:308220
Retinitis Pigmentosa 89	Bicuspid aortic valve, Hepatosplenomegaly	OMIM:618955
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Juvenile Paget Disease	Optic atrophy, Hypertension, Abnormality of retinal pigmentation, Hyperuricemia	ORPHA:2801
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Renal transitional cell carcinoma, Pheochromocytoma, Lymphedema, Precoc...	ORPHA:2874
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:618010
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi...	OMIM:613642
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Ventricular tachycardia, ...	OMIM:605676
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal lung lobation, Atrial septal defect, Ectopic kidney, Hypospadias, Noncompaction cardiomy...	OMIM:607872
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, Y-shaped metacarpals, Broad...	OMIM:175700
Alexander Disease	Hypothermia, Hypertension, Hypotension, Hypothyroidism, Precocious puberty, Failure to thrive, Di...	ORPHA:58
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Perisylvia...	ORPHA:739
Microcephaly 30, Primary, Autosomal Recessive	Intrauterine growth retardation, Secundum atrial septal defect, Increased nuchal translucency	OMIM:620183
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Hypertension, Severe short stature, Splenomegaly, Retinal ...	ORPHA:191
Hellp Syndrome	Prolonged prothrombin time, Acute kidney injury, Pulmonary edema, Pleural effusion, Hypotension, ...	ORPHA:244242
Carney Triad	Gastrointestinal hemorrhage, Anemia, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t...	OMIM:612447
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hepatomegaly, Hyperechogenic pancr...	OMIM:208540
Ataxia-Telangiectasia	Delayed puberty, Elevated circulating hepatic transaminase concentration, Recurrent respiratory i...	ORPHA:100
Immunodeficiency 23	Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Hemolytic anemia, N...	OMIM:615816
Gaucher Disease Type 1	Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Pulmonary arteria...	ORPHA:77259
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Brea...	ORPHA:2232
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Abnormal circulating creatine kinas...	ORPHA:98908
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Inguinal hernia, Tibial bowing, Bowing of th...	OMIM:613848
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Periodontitis, Proportionate short stature, Growth delay, Precocious puberty, Hydrone...	OMIM:619269
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Craniosynostosis, Pulmonary artery atresia, Supravalvar pulmonary steno...	OMIM:618164
Kagami-Ogata Syndrome	Pulmonic stenosis, Splenomegaly, Pulmonary arterial hypertension, Patent ductus arteriosus	OMIM:608149
Perching Syndrome	Respiratory distress, Joint contracture, Camptodactyly, Cyanosis	OMIM:617055
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Prima...	OMIM:614841
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, Premature ...	ORPHA:423
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Respiratory distress	OMIM:614741
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Fever, Tachycardia, Ventricular septal defect, Hyp...	OMIM:614653
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia	OMIM:612286
Woodhouse-Sakati Syndrome	Osteopenia, Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased...	ORPHA:3464
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Pulmonic ...	OMIM:220210
Porphyria Variegata	Tachycardia, Hypertension, Anemia	ORPHA:79473
Idiopathic Hypereosinophilic Syndrome	Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myocardial eosin...	ORPHA:3260
Specific Granule Deficiency 2	Osteopenia, Amelogenesis imperfecta, Sepsis, Recurrent otitis media, Sandal gap, Failure to thriv...	OMIM:617475
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Recurrent urinary trac...	OMIM:613680
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Intrauterine...	ORPHA:314588
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Limb hypertonia, Glandular hypospadias, Tricuspid regurgitation, Pulmonary hypoplas...	OMIM:620306
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Bradycardia	ORPHA:565624
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Transposition of the great arteries	OMIM:619910
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Short Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc...	ORPHA:3163
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Mitral valve prolapse	OMIM:173900
Ivic Syndrome	Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulna...	OMIM:147750
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting	OMIM:612287
Histiocytosis-Lymphadenopathy Plus Syndrome	Azoospermia, Pulmonary arterial hypertension, Hypergonadotropic hypogonadism, Pulmonic stenosis, ...	OMIM:602782
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Diabetes mellitus, Ectopic ossification	OMIM:602475
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter...	ORPHA:3384
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Hyperechogenic pancreas, Proximal placement of thumb, Skeletal muscle fibrosis, ...	ORPHA:456312
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Polymicrogyria, Hypertension, Premature ventricular contraction	OMIM:620504
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Mosaic Trisomy 9	Hypoplasia of penis, Multiple renal cysts, Intrauterine growth retardation, Oligohydramnios, Hydr...	ORPHA:99776
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, B lymphocy...	OMIM:619705
3C Syndrome	Postnatal growth retardation, Atrioventricular canal defect, Abnormal tricuspid valve morphology,...	ORPHA:7
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Reduced left ventricular ejection fraction, Cardiomyopathy, Pulmonary arterial hypertension, Pach...	ORPHA:258
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Joint hypermobility, Atrial septal defect, Flexion contracture	OMIM:619720
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Abnormal vagina morphology, Respiratory distress, Dysu...	ORPHA:537
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Caudal Regression Syndrome	Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Hypertension, Abn...	ORPHA:3027
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias, Respiratory distress	OMIM:300934
Marburg Hemorrhagic Fever	Increased circulating antibody level, Bradycardia, Capillary leak, Neutrophilia in presence of in...	ORPHA:99826
Congenital Tracheomalacia	Tracheobronchomalacia, Abnormal heart morphology, Cardiomegaly, Dyspnea, Pulmonary arterial hyper...	ORPHA:95430
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism, Cong...	ORPHA:2519
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, St...	OMIM:616307
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Incre...	ORPHA:89938
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Testicular seminoma, Short stature, Hypogonadism, Cryptorchidism, Rena...	ORPHA:281090
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Pulmonic stenosis, Mitral valve prolapse, Left ventricular hypertrophy, ...	OMIM:613795
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Giant Cell Arteritis	Hematuria, Recurrent pharyngitis, Diabetes insipidus, Vasculitis, Arthritis, Cerebral ischemia, D...	ORPHA:397
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Elevated circulating alk...	OMIM:264700
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Spontaneous, recurrent epistaxis, Leukopenia, Splenomegaly, Impaired ne...	OMIM:214500
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood, Recurrent respiratory infect...	OMIM:253300
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Brachydactyly	ORPHA:1426
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl...	ORPHA:3409
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Failure to thrive, Ar...	OMIM:614052
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Developmental And Epileptic Encephalopathy 109	Failure to thrive, Left ventricular hypertrophy	OMIM:620145
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Sinus bradycardia, Simplified gyral pattern, Pachygyria	OMIM:618397
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Increased adipose tissue around...	OMIM:248370
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension	OMIM:605711
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Respiratory distress, Growth delay, Hyperammonemia, Renal insufficien...	ORPHA:289916
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertio...	ORPHA:199241
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	OMIM:619355
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly, Hypoglycemia	OMIM:613027
Autoinflammation With Infantile Enterocolitis	Episodic vomiting, Skin rash, Enterocolitis, Failure to thrive, Secretory diarrhea, Feeding diffi...	OMIM:616050
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Hypertension, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obes...	OMIM:219090
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating C-react...	ORPHA:829
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Immunodeficiency 61	Recurrent otitis media, Obesity, Recurrent sinusitis, Attention deficit hyperactivity disorder, R...	OMIM:300310
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Clubbing, Abnormal heart morphology, Peribronchovascular interstitia...	ORPHA:244
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Adams-Oliver Syndrome 5	Pulmonic stenosis, Hypersplenism, Splenomegaly, Pulmonary arterial hypertension	OMIM:616028
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Yellow Nail Syndrome	Pulmonary arterial hypertension	ORPHA:662
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Hypertension, Bicornuate uterus, Pulmonary hypoplasia, Proteinuria, Vag...	OMIM:191830
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Hypogonadism, Plantar hyperkeratosis, Genu varum, Finger symphalangism, Abnorma...	ORPHA:221008
Serkal Syndrome	Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Renal agenesis, Pulmon...	ORPHA:139466
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda...	ORPHA:392
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Schneckenbecken Dysplasia	Stillbirth, Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped l...	OMIM:269250
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr...	OMIM:614008
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Bloom Syndrome	Premature ovarian insufficiency, Decreased circulating total IgM, Male infertility, Acute myeloid...	ORPHA:125
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Mitochondrial Dna-Associated Leigh Syndrome	Hypothermia, Hyperalaninemia, Hypertrophic cardiomyopathy, Fever, Failure to thrive, Cardiac cond...	ORPHA:255210
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation...	OMIM:300952
Fanconi Anemia, Complementation Group W	Growth delay, Renal hypoplasia, Decreased response to growth hormone stimulation test, Intrauteri...	OMIM:617784
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Sepsis, Recurrent otitis media, Sclerosing cholangitis, Recurrent bacteri...	OMIM:243700
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Jaundice, Reduced haptoglobin level, Hemosiderinuria, Hypertension, Dyspnea,...	ORPHA:447
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:98754
Flynn-Aird Syndrome	Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypothermia, Hyperbilirubinemia, Portal hypertension, Failure to thrive, Elevated circulating alp...	OMIM:251880
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Hydrometrocolpos, Recurrent otitis media, Recurrent respiratory infections, Chronic g...	OMIM:150230
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Bowing of the long bones, Brachydactyly	ORPHA:40
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti...	OMIM:162000
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Hyperbilirubinemia, Dehydration, Ascites, Short stature, Growth delay, Hy...	ORPHA:1667
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Respiratory dis...	OMIM:614748
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Dilated cardiomyopathy, Polyhydramnios, Respiratory distress	OMIM:300580
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Dicarboxylic aciduria, Elevated circulating hepa...	ORPHA:99901
Vitamin D-Dependent Rickets, Type 2A	Rickets, Elevated circulating parathyroid hormone level, Fibular bowing, Elevated circulating alk...	OMIM:277440
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension, Thrombocytopen...	ORPHA:974
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Scrub Typhus	Myocarditis, Abnormal bleeding, Skin rash, Dyspnea, Hypotension, Splenomegaly, Anterior uveitis, ...	ORPHA:83317
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Micromelia, Micrognathia, ...	ORPHA:93329
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal cardiac ventricle morphology, Intrauterine growth retardat...	ORPHA:2306
Catel-Manzke Syndrome	Chronic otitis media, Joint stiffness, Short stature, Camptodactyly of finger, Joint hypermobilit...	ORPHA:1388
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Failure to thri...	OMIM:209920
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Diabetic Embryopathy	Renal hypoplasia/aplasia, Transposition of the great arteries, Ureteral duplication, Cryptorchidi...	ORPHA:1926
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Suleiman-El-Hattab Syndrome	Recurrent respiratory infections, Patent foramen ovale, Cryptorchidism, Hydronephrosis, Atrial se...	OMIM:618950
Leprechaunism	Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased bod...	ORPHA:508
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Congestive heart failure, Osteopenia, Emphysema, Unilateral renal a...	ORPHA:90348
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Brain Malformations With Or Without Urinary Tract Defects	Cutis marmorata, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	OMIM:613735
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, T...	ORPHA:99812
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, ...	OMIM:614582
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Renal hypoplasia/aplasia, Truncus arteriosus, Renal agenesis, Joint stiff...	ORPHA:2516
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant ce...	ORPHA:79303
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Myotonia With Skeletal Abnormalities And Mental Retardation	Genu valgum, Irregular femoral epiphysis, Myotonia	OMIM:255710
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Gastrointestinal hemorrhage, Purpura, Petechiae, Vasculi...	ORPHA:91138
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Abnormal bleeding, Fractures of the long bones, Pleural eff...	ORPHA:464329
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Diamond-Blackfan Anemia 21	Short stature, Secundum atrial septal defect, Cutis marmorata, Aortic regurgitation	OMIM:620072
Severe Acute Respiratory Syndrome	Acute kidney injury, Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Diabet...	ORPHA:140896
Laurence-Moon Syndrome	Hypoplasia of penis, Short stature, Displacement of the urethral meatus, Type II diabetes mellitu...	ORPHA:2377
Glycogen Storage Disease V	Myoglobinuria, Failure to elevate ammonia on ischemic exercise, Dark urine	OMIM:232600
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Pericarditis, Leukopen...	ORPHA:809
Cardiogenic Shock	Hypoxemia, Oliguria, Edema, Elevated circulating creatinine concentration, Low-output congestive ...	ORPHA:97292
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Cryptorchidism, Short stature, Diabetes mellitus, Arrhyth...	OMIM:249270
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Congestive heart failure, Palpebral edema, Jaundice, Hematuria, Hypospadias, Aor...	OMIM:619475
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Tarp Syndrome	Cyanosis, Hydronephrosis, Tetralogy of Fallot, Pulmonary hypoplasia, Apnea, Intrauterine growth r...	ORPHA:2886
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Chronic bronchitis, Panacinar emphysema	OMIM:613490
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Chilblains, Growth delay, Hepatosplenomegaly, Proteinuria, Membranoproli...	OMIM:619858
Bloom Syndrome	Clinodactyly of the 5th finger, Decreased fertility in females, Azoospermia, Facial telangiectasi...	OMIM:210900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Hypospadias, Recurrent respiratory infections, Patent foramen ovale, Pulm...	OMIM:618316
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy, Elevated circulating alkaline pho...	OMIM:616833
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Exertional dyspnea, Sinus venosus...	ORPHA:1478
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Recurr...	OMIM:616462
Synaptic Congenital Myasthenic Syndromes	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Abnormal synaptic t...	ORPHA:98915
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:98793
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Ectopic kidney, Aortic regurgitation, Labial hypoplasia, Vesicoureteral ref...	ORPHA:140952
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Diarrhea 13	Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Re...	OMIM:620357
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Nonimmune hydrops fetalis, Camptodactyly, Pulmonary lymphangiectasia, Thyroid lym...	OMIM:235510
Schwartz-Jampel Syndrome	Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Death in in...	ORPHA:800
Diffuse Alveolar Hemorrhage	Hematuria, Dyspnea, Hypoxemia, Proteinuria, Pulmonary fibrosis, Elevated circulating creatinine c...	ORPHA:90060
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Contracture of the proximal interphalangeal joint of the 4th toe, Abnormal ...	ORPHA:457279
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Hypertension, Growth delay, H...	ORPHA:1764
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Diastrophic Dysplasia	Neonatal short-limb short stature, Increased bone mineral density, Joint stiffness, Camptodactyly...	ORPHA:628
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Calcaneovalgus deformity, Left ventricular hypertrophy, Absent Achilles reflex, O...	ORPHA:93952
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen...	OMIM:602557
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand	OMIM:603543
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:177904
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ...	ORPHA:411634
Distal Deletion 12Q	Ectopic kidney, Biliary atresia, Proportionate tall stature, Pituitary adenoma, Aplasia/Hypoplasi...	ORPHA:96149
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia, Death in infan...	OMIM:609069
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly	OMIM:620603
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hyperhidrosi...	ORPHA:91347
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Listeriosis	Myocarditis, Acute kidney injury, Congestive heart failure, Stiff neck, Jaundice, Arteritis, Resp...	ORPHA:533
Congenital Myopathy 17	Polyhydramnios, Renal hypoplasia, Hydronephrosis, Pulmonary hypoplasia, Respiratory tract infecti...	OMIM:618975
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Syndactyly	OMIM:601163
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Gaucher Disease Type 2	Hepatomegaly, Respiratory distress, Cardiac arrest, Flexion contracture, Splenomegaly, Abnormal p...	ORPHA:77260
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos...	OMIM:609814
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Eo...	ORPHA:449427
Coffin-Siris Syndrome 1	Postnatal growth retardation, Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Rec...	OMIM:135900
Van Maldergem Syndrome 2	Osteopenia, Hypospadias, Tracheomalacia, Hypoplastic nipples, Bifid scrotum, Growth delay, Renal ...	OMIM:615546
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Congestive heart failure, Gastrointestinal hemorrhage, Retinal telangiecta...	ORPHA:774
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo...	ORPHA:500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar...	OMIM:301074
Fanconi Anemia	Renal hypoplasia/aplasia, Reduced bone mineral density, Abnormal renal morphology, Hypogonadism, ...	ORPHA:84
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninem...	OMIM:619046
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De...	ORPHA:177901
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal defect, Hepatomegaly, Hypokale...	OMIM:619573
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Patent ductus arteriosus, Bicuspid aortic valve, Abnormal left ventricular ...	OMIM:132900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis, Lymphopenia	OMIM:247800
Rhabdomyolysis, Susceptibility To, 1	Abnormal circulating acylcarnitine concentration, Renal insufficiency, Elevated circulating creat...	OMIM:620235
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Hypoplasia of penis, Vesicoureteral reflux, Abnormal testis morphology, Cry...	ORPHA:96147
Familial Pseudohyperkalemia	Hyperkalemia, Hypertension	ORPHA:90044
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Hypothalamic hamartoma, Clinodactyly, Fibular aplasia,...	OMIM:277170
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Alagille Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Hepatomegaly, Hypertension, Abnormality of the ureter,...	ORPHA:52
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Hypotensio...	OMIM:620300
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Polyhydramnios, Diabetes insipidus, Nephrocalcinosis, Joint hypermobility, Atrial septal defect	OMIM:611087
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Multip...	ORPHA:66637
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Oligosacchariduria, Delayed patellar ...	ORPHA:163649
Mgat2-Cdg	Osteopenia, Abnormal bleeding, Hydrops fetalis, Patent ductus arteriosus, Abnormality of the endo...	ORPHA:79329
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight...	ORPHA:589905
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu...	OMIM:618280
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi...	ORPHA:85166
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec...	ORPHA:93672
Lambert Syndrome	Jaundice, Hypospadias, Decreased circulating antibody level, Intrauterine growth retardation, Ven...	ORPHA:1296
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Chromosome 18Q Deletion Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Hypospadias, Rec...	OMIM:601808
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Obesity, Hypogonadism, Rod-cone dystrophy...	OMIM:615984
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated plasma citr...	ORPHA:247585
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormal cardiovascular system physiology...	ORPHA:168569
Transaldolase Deficiency	Abnormality of the kidney, Hydrops fetalis, Abnormal circulating glutamine concentration, Increas...	ORPHA:101028
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Hypertriglyceridemia, Osteopenia, Decreased circulating total IgM, Hypopa...	ORPHA:369837
Immunodeficiency 95	Increased circulating IgG3 level, Respiratory distress, Recurrent viral upper respiratory tract i...	OMIM:619773
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla...	OMIM:620663
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop...	OMIM:603553
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Hypergonadotropic hypogonadism, Renal agenesis, Growth delay, Death in in...	OMIM:300514
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Trichothiodystrophy	Osteopenia, Gonadal dysgenesis, Multiple joint contractures, Craniosynostosis, Cutaneous photosen...	ORPHA:33364
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi...	OMIM:618183
17Q23.1Q23.2 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:261279
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp...	OMIM:614172
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Ulcerative colitis, Enterocolitis	OMIM:614878
Donnai-Barrow Syndrome	Abnormality of the uterus, Ventricular septal defect, Proteinuria, Bicornuate uterus	ORPHA:2143
Poland Syndrome	Finger symphalangism, Renal hypoplasia/aplasia, Reduced bone mineral density, Hypospadias, Duplic...	ORPHA:2911
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Abnormal renal glomerulus morphology, Lymph...	OMIM:137940
Van Maldergem Syndrome 1	Osteopenia, Hypospadias, Tracheomalacia, Camptodactyly, Growth delay, Renal hypoplasia, Joint hyp...	OMIM:601390
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi...	OMIM:147891
Hermansky-Pudlak Syndrome 1	Cardiomyopathy, Gingival bleeding, Inflammation of the large intestine, Hematochezia, Epistaxis, ...	OMIM:203300
Congenital Heart Defects, Multiple Types, 9	Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri...	OMIM:620294
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Palpebral edema, Splenomegaly, Heart murmur, Cardiomegaly, Craniosynostosis, Pat...	OMIM:252500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc...	OMIM:300863
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
ERI1-related disease	Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:608739
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Lymphedema, Short stature, Pulmonary lymphangiectasia, M...	OMIM:247410
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Multiple bladder diverticula, Recurrent otitis media, Small scrotum...	ORPHA:2728
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Epiphyseal stippling, Limb undergrowth, Abnormal epip...	ORPHA:177
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence...	ORPHA:391487
Monosomy 5P	Finger syndactyly, Microretrognathia, Small hand	ORPHA:281
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp...	ORPHA:93108
Rh Deficiency Syndrome	Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,...	ORPHA:71275
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones...	OMIM:602080
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid...	ORPHA:3337
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint hypermobility, Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Meacham Syndrome	Hypoplasia of penis, Abnormal vagina morphology, Pulmonary sequestration, Aortic valve stenosis, ...	ORPHA:3097
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal testis morphology, Obesity, Abnormal morphology of ulna,...	ORPHA:2233
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Proximal tubulopathy, Aminoaciduria, Respiratory distress	OMIM:612075
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Death in childhood, Exertional dyspnea, Respiratory distress, Hypertrophic cardiomy...	OMIM:220110
Congenital Rubella Syndrome	Abnormality of the pulmonary artery, Atrial septal defect, Type I diabetes mellitus, Ventricular ...	ORPHA:290
Abruzzo-Erickson Syndrome	Hypospadias, Short stature, Radioulnar synostosis, Abnormal localization of kidney, Atrial septal...	ORPHA:921
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Igg4-Related Submandibular Gland Disease	Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Renal insufficiency, Eos...	ORPHA:449432
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency, Erythema	ORPHA:454
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Hypothyroidism, Hyperthyroidism, Mitral valve prolapse, Diabetes mellitus	ORPHA:449291
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:363528
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Renal cyst, Cryptorchidism, Short stature, Heart murmur, Int...	ORPHA:166035
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Syndactyly, Unilateral brachyd...	OMIM:173800
Raine Syndrome	Subperiosteal bone formation, Hydroureter, Increased bone mineral density, Death in infancy, Shor...	OMIM:259775
Mesomelic Dysplasia, Savarirayan Type	Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Anterior tibial bowing, Dislocated ...	OMIM:605274
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Cachexia, Hypotension, Hypovolemia,...	ORPHA:275761
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Autosomal Recessive Centronuclear Myopathy	Pes cavus, Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Gene...	ORPHA:169186
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Cyanosis, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosu...	ORPHA:3304
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Nephrotic syndrome, Mucopolysacchariduria, Short stature, Prot...	OMIM:215250
Cog4-Cdg	Failure to thrive in infancy, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Joubert Syndrome 18	Renal cyst, Camptodactyly, Intrauterine growth retardation, Joint hypermobility, Ventricular sept...	OMIM:614815
Cryofibrinogenemia, Familial Primary	Transient nephrotic syndrome, Hematuria, Acrocyanosis	OMIM:123540
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, Abnormal circulating creatine kinase concentr...	ORPHA:98907
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Pancreatitis, Diabetic ketoacidosis, Abnormal blood gas level, Vasculitis, Dyspn...	ORPHA:70578
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphyseal sclerosis, ...	OMIM:122860
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
C1Q Deficiency 2	Sepsis, Pneumocystis carinii pneumonia, Recurrent otitis media, Recurrent lower respiratory tract...	OMIM:620321
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in...	ORPHA:75508
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Limitation of joint mobility, Respiratory distress	ORPHA:2680
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Penile Agenesis	Atrial septal defect, Hydroureter, Bilateral lung agenesis, Maternal diabetes, Abnormality of the...	ORPHA:49
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl...	OMIM:605282
Patent Ductus Venosus	Decreased liver function, Persistent patent ductus venosus, Congenital portosystemic venous shunt...	OMIM:601466
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hepatomegaly, Polyhydramnios, Short stature, Growth delay, Splenomegaly, Reduced r...	OMIM:618541
Livedoid Vasculopathy	Ischemic stroke, Anemia, Pancytopenia, Hypertension, Leukocytosis, Polycythemia, Telangiectasia o...	ORPHA:542643
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Hyperextensibility of the finger joints, Patent foramen ovale, Stage 1 chronic kidney...	OMIM:618821
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Polyhydramnios, Recurrent lower respiratory tract infections, Short stature, Hypothyr...	OMIM:618005
Thanatophoric Dysplasia	Abnormality of the kidney, Polyhydramnios, Disproportionate short-limb short stature, Increased n...	ORPHA:2655
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Renal cyst, Gonadal dysgenesis, male, Double ou...	OMIM:231060
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr...	OMIM:618131
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hypertension, Neutropenia	ORPHA:2169
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Polyhydramnios, Chylothorax, Lymphedema, Cryptorchidism, Aortic val...	OMIM:613563
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Pheochromocytoma, Hypertension, Pituitary adenoma, Parathyroid adenoma, Stag...	ORPHA:805
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance	ORPHA:90154
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Joint hypermobility, Eosinophilic infiltration of the esophagus, Mitral ...	OMIM:614816
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperb...	OMIM:229600
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Short stature, Patent ductus arteriosus, Ventricular septal defect, ...	OMIM:218350
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Wolff-Parkinson-White syndrome, Increased circulating creatin...	OMIM:232300
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Overgrowth, Ventricular septal defect, Hydronephrosis, Joint hypermobility, Short fe...	OMIM:617798
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Aminopterin Syndrome Sine Aminopterin	Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Syndactyly, Brachydacty...	OMIM:600325
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:261650
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Abnormality of temperature regulation, Hypothermia, Fever, Obesity, Recurrent pneumonia	OMIM:618493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
8Q12 Microduplication Syndrome	Atrial septal defect, Vesicoureteral reflux, Ventricular septal defect	ORPHA:228399
Paramyotonia Congenita	Paradoxical myotonia, Percussion myotonia, Handgrip myotonia	OMIM:168300
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, ...	ORPHA:857
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Short stature, Splenomegaly, Chronic kidney disease, Ventricular ...	OMIM:615630
Pfeiffer Syndrome Type 1	Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad thumb, Short palm, Hallux...	ORPHA:93258
Congenital Tracheal Stenosis	Abnormal lung lobation, Abnormality of the kidney, Anomalous origin of left pulmonary artery from...	ORPHA:141127
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Elevated circulating alkaline phosphatase concentration, Delayed epiphys...	OMIM:600081
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Epiphyseal stippling, Death in infancy, Ventricular septal defect	OMIM:614876
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr...	OMIM:614700
Nail-Patella Syndrome	Limited elbow extension, Abnormality of the kidney, Reduced bone mineral density, Hematuria, Knee...	ORPHA:2614
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Tracheomalacia, Respiratory distress, Cardiomyopathy, Patent ductus arteriosus, Cryp...	OMIM:217980
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Recurrent otitis media, Chronic mucocutaneous candidiasis, Invasive fungal infection,...	ORPHA:98813
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Severe short stature, Acrocyanosis	OMIM:302000
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Obesity, Ventricula...	OMIM:614947
Apolipoprotein A-I Deficiency	Angina pectoris	ORPHA:425
Renpenning Syndrome 1	Situs inversus totalis, Death in childhood, Hypospadias, Phimosis, Camptodactyly, Synostosis of t...	OMIM:309500
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure...	ORPHA:289
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio...	OMIM:243150
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Agel Amyloidosis	Blepharochalasis, Dermatological manifestations of systemic disorders, Xerostomia, Cardiomyopathy...	ORPHA:85448
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Bicuspid aortic valve...	OMIM:602531
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin...	ORPHA:226316
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy	OMIM:614458
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Pulmonic stenosis, Short stature, Patent ductus arteriosus, Atrial s...	OMIM:249670
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:2152
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Microtriplication 11Q24.1	Obesity, Hyperlipidemia	ORPHA:289522
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Petechiae, Patent foramen ovale, Splenomegaly, Patent ductus arteriosus, ...	OMIM:251290
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hyp...	OMIM:602152
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Reduced bone mineral density, Elevated circulating hepatic transamina...	ORPHA:404454
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Cholecystitis, Cholangitis, Recurrent tonsillitis, Viral hepatitis, Recurrent herpes,...	ORPHA:183675
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Congestive heart failure, Abnormal bleed...	OMIM:616271
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Retin...	OMIM:611773
Ochoa Syndrome	Hypertension	ORPHA:2704
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency, Subperiosteal bone formation, Osteoscle...	OMIM:609993
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Hepatomegaly, Renal insufficiency, Dehydration	ORPHA:28
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to ...	OMIM:103580
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh...	OMIM:157900
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly...	ORPHA:540
Immunodeficiency 40	Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac...	OMIM:616433
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Severe postnatal growth retardation, Pr...	ORPHA:2729
Esophageal Atresia	Polyhydramnios, Maternal diabetes, Cyanosis, Respiratory distress, Episodic respiratory distress,...	ORPHA:1199
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Lymphopenia	OMIM:617425
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Acrocyanosis, Growth delay, Short stature, Decreased testicular size...	ORPHA:1867
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Palpebral edema, Death in adolescence, Death in infancy, Renal cortical mic...	OMIM:614866
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hypomelanosis Of Ito	Hand polydactyly, Clinodactyly, Radial deviation of finger, Syndactyly	OMIM:300337
Rauch-Steindl Syndrome	Postnatal growth retardation, Hepatomegaly, Miscarriage, Short stature, Hyperechogenic kidneys, B...	OMIM:619695
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se...	OMIM:618652
Pseudoxanthoma Elasticum, Forme Fruste	Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage	OMIM:177850
Bardet-Biedl Syndrome 22	Polydactyly, Large for gestational age, Macular hypopigmentation, Obesity, Hypogonadism, Rod-cone...	OMIM:617119
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Subcutaneous hemorrhage, Proteinuria, P...	OMIM:603585
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hypertension, Ascites, Nephrocalcinosis, Pancreatic calcification, Cardi...	ORPHA:51608
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Membranous subvalvular aortic stenosis, Synostosis of carpal bones, Biliary trac...	ORPHA:3191
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc...	OMIM:239000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Farber Disease	Short finger, Abnormal foot morphology, Elevated circulating hepatic transaminase concentration, ...	ORPHA:333
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism	ORPHA:99927
Whim Syndrome 1	Abnormal female external genitalia morphology, Recurrent bacterial infections, Recurrent upper re...	OMIM:193670
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Polyhydramnios, Hypertrophic cardiomyopathy, Cryptorchid...	OMIM:610733
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Long fi...	OMIM:615438
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Vesicoureteral reflux, Ventricular septal defect, Apneic epi...	ORPHA:3078
Acute Transverse Myelitis	Orthostatic hypotension, Hypertension, Priapism, Subarachnoid hemorrhage, Abnormal libido, Abscess	ORPHA:139417
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Re...	OMIM:307200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Chronic kidney disease, Osteoporosis, Renal amyloidosis, Urethral stricture, Dil...	ORPHA:79408
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero...	OMIM:300972
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Ureteral duplication, Disproportionate short-limb s...	OMIM:261540
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Leukocytosis, Pulmonary arterial hypertension	OMIM:620233
Arteriosclerosis, Severe Juvenile	Delayed puberty, Central retinal vessel vascular tortuosity, Hypertension, Central fundal arterio...	OMIM:208060
Posterior Urethral Valve	Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary...	ORPHA:93110
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Cognitive impairment, Hypogonadis...	OMIM:615994
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Multiple bladder diverticula, Emphysema, Atelectasis, Death in childhood, Tracheomala...	OMIM:613177
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Dicarboxylic aciduria, Hy...	OMIM:231530
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Cardiomyopathy, Dyspnea, Epistaxis, Pulmonary fib...	ORPHA:79430
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hepatomegaly, Polyhydramnios, Abnormal fallopian tube morphology, H...	ORPHA:1655
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Halberd-shaped pelvis, Micromelia...	ORPHA:2635
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bifid scrotum, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Abnormal ...	ORPHA:261552
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine k...	OMIM:618838
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,...	ORPHA:93333
Odontochondrodysplasia	Abnormal metaphysis morphology, Square pelvis bone, Bowing of the long bones, Micromelia, Short p...	ORPHA:166272
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cutaneous photosensitivity, Prematurely aged appearance, Hyperte...	OMIM:610965
Beta-Mercaptolactate Cysteine Disulfiduria	Short stature, Joint hypermobility, Atrial septal defect, Abnormality of the ureter	ORPHA:1035
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hypertension, Tric...	OMIM:253200
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Familial Mediterranean Fever, Autosomal Dominant	Pleuritis, Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites...	OMIM:235255
Alport Syndrome 1, X-Linked	Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, ...	OMIM:301050
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Resp...	ORPHA:36238
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:971
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperuricemia, Hyperlipidemia, Joint hemorrhage, Epistaxis, Intracra...	ORPHA:35909
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Joint hypermobility, Ventricular septal defect, Double outlet right ventricle	OMIM:616652
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension	OMIM:616449
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,...	ORPHA:404443
Joubert Syndrome 3	Nephronophthisis, Atrial septal defect, Stage 5 chronic kidney disease, Central apnea, Episodic t...	OMIM:608629
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, ...	ORPHA:50251
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura...	ORPHA:167
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Left bundle branch block, Impaired glucose tolerance, Elevated circulating ...	OMIM:610131
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Ciliary Dyskinesia, Primary, 53	Hypoplastic spleen, Polysplenia, Pulmonary arterial hypertension	OMIM:620642
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Recurren...	OMIM:256810
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Joint stiffness, Hypogonadism...	ORPHA:1606
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Enures...	OMIM:614856
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Hyperalaninemia, Hypertrophic ...	OMIM:252010
Hyperprolinemia Type 2	Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria...	ORPHA:79101
Achondrogenesis, Type Ib	Stillbirth, Short ribs, Hypoplastic ilia, Micromelia	OMIM:600972
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:261537
Castleman Disease	Jaundice, Hematuria, Elevated circulating C-reactive protein concentration, Restrictive cardiomyo...	ORPHA:160
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Decreased testicular size, Absence of pubertal development, Obesity, Diabetes melli...	OMIM:610628
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory distress	OMIM:613561
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Arthrogryposis multiplex congenita...	OMIM:615547
Nelson Syndrome	Hypokalemia, Secondary hypercortisolism, Diabetes insipidus, Anterior hypopituitarism, Adrenocort...	ORPHA:199244
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia	OMIM:156400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Proximal placement of thumb, Skeletal muscle fibrosis...	OMIM:616263
Hoxha-Aliu Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous v...	OMIM:620662
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Hepatomegaly, Knee flexion contracture, Respiratory distress, Elevated...	OMIM:608799
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Cone-shaped epiphysis, Hypospadias, Bila...	ORPHA:439822
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Polyhydramnios, Limitation of joint mobility, Increased nuchal translu...	ORPHA:93274
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Hypomagnesemia 3, Renal	Hypertension, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated c...	OMIM:248250
Functioning Gonadotropic Adenoma	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:91348
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Childhood-Onset Spasticity With Hyperglycinemia	Optic atrophy, Short attention span, Left ventricular hypertrophy	ORPHA:401866
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Omphalocele, Foot oligodactyly, Short femur, Ventricular septal defect	OMIM:601357
Monosomy 18P	Hypertension	ORPHA:1598
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Nephrolithiasis	ORPHA:93160
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Cryptorchidism, Short stature, Growth delay, Hydronephrosis, Patent ductus arteriosus, Craniosyno...	ORPHA:457193
Adams-Oliver Syndrome 1	Hypertension, Imperforate hymen, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve...	OMIM:100300
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:274300
Zellweger Syndrome	Clitoral hypertrophy, Hepatomegaly, Jaundice, Hypospadias, Epiphyseal stippling, Death in infancy...	ORPHA:912
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Crohn's disease, ...	OMIM:249100
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery	ORPHA:1131
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Aplasia of th...	OMIM:274000
Diamond-Blackfan Anemia 1	Congestive heart failure, Tricuspid stenosis, Short stature, Renal hypoplasia, Intrauterine growt...	OMIM:105650
Peritoneal Cystic Mesothelioma	Metrorrhagia, Menorrhagia, Dyspareunia	ORPHA:168816
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hy...	OMIM:603471
Shwachman-Diamond Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Abnormal finger morphology,...	ORPHA:811
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation, Abnormal loc...	ORPHA:83473
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Enuresis, Camptodactyly, Aortic valve stenosis, Short stature, Atrial ...	ORPHA:459061
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti...	ORPHA:508533
Tatton-Brown-Rahman Syndrome	Vesicoureteral reflux, Tricuspid regurgitation, Sagittal craniosynostosis, Atrial septal defect, ...	OMIM:615879
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Left ventricular hypertrophy, Joint hypermobility, Abnormal cardiac ventricular ...	ORPHA:466791
Chops Syndrome	Cervical C2/C3 vertebral fusion, Tracheomalacia, Patent foramen ovale, Vesicoureteral reflux, Ano...	OMIM:616368
Familial Multiple Nevi Flammei	Pulmonary embolism, Intracranial hemorrhage, Arrhythmia	ORPHA:624
Geleophysic Dysplasia 2	Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral stenosis, Mitr...	OMIM:614185
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Homocystinuria, Hyperhomocystinemia, Respiratory distress, Short stature, Growth delay,...	OMIM:250940
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Retinal dystrophy, Recurrent infections, Microvesicular hepatic ste...	OMIM:619273
Shigellosis	Myocarditis, Urethritis, Acute kidney injury, Abnormal blood ion concentration, Hemolytic-uremic ...	ORPHA:810
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Mucopolysaccharidosis, Type X	Genu valgum, Aortic regurgitation, Vitreous floaters, Nephrolithiasis, Irregular acetabular roof,...	OMIM:619698
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Reduced bone mineral density, Polyhydramnios, Atrial septal defect, Cr...	ORPHA:466926
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Intrauterine growth retardation, Oli...	ORPHA:2255
Alfadhel Syndrome	Short stature, Joint hypermobility, Horseshoe kidney, Nasal flaring	OMIM:620655
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Genitopatellar Syndrome	Clitoral hypertrophy, Knee flexion contracture, Cryptorchidism, Short stature, Hip contracture, H...	ORPHA:85201
Schinzel-Giedion Syndrome	Stiff elbow, Annular pancreas, Hypospadias, Respiratory distress, Nephrolithiasis, Renal cyst, Ab...	ORPHA:798
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Glomerulopathy, Predominantly lower limb lymphedema, Re...	ORPHA:33001
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Arthritis, Uric acid nephrolithiasis, Cr...	ORPHA:411543
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Mesomelia, Metaphyseal widening, Brac...	OMIM:612813
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Arthrogryposis multiplex congenita, Hydronephrosis, Edema, Dilated cardiomyopathy...	OMIM:607598
Acrodysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ...	ORPHA:950
Adams-Oliver Syndrome 4	Cutis marmorata, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:65286
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Bardet-Biedl Syndrome 9	Polydactyly, Bone spicule pigmentation of the retina, Irregular menstruation, Renal insufficiency...	OMIM:615986
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand muscle atro...	ORPHA:324442
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, N...	OMIM:105120
Immunoglobulin A Vasculitis	Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Purpura, Vascular skin abnormality, Eryth...	ORPHA:761
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Micrognathia, Brachydactyly	ORPHA:2145
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamu...	ORPHA:2183
Thomsen And Becker Disease	Myotonia	ORPHA:614
Marfan Syndrome	Pneumothorax, Congestive heart failure, Tricuspid valve prolapse, Limited elbow extension, Emphys...	OMIM:154700
Neu-Laxova Syndrome	Hypogonadism, Rickets, External genital hypoplasia, Abnormal cortical gyration, Polymicrogyria, O...	ORPHA:2671
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Clinod...	OMIM:617877
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,...	ORPHA:436159
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:99880
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Lymphedema, Short stature, Hypothyroidism,...	ORPHA:1563
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Polyhydramnios, Aortic regurgitation, Intrauterine growth retardation, As...	ORPHA:1052
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Pancytopenia, Vasculitis, Hypertension, Decreased circulating antibody level, Leukocytosi...	OMIM:615688
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Mu...	ORPHA:3032
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Delirium, R...	ORPHA:100924
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Hypokalemia, Hypertension, Increased urinary cor...	ORPHA:786
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, External genital hypoplasia, Obesity, Hypogonadotropic hypo...	ORPHA:177910
Sarcoidosis	Decreased liver function, Nephrocalcinosis, Abnormal reproductive system morphology, Enlarged lac...	ORPHA:797
Abetalipoproteinemia	Osteopenia, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:14
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Limited knee flexion/extension, Reduced left ventricular ejection fractio...	ORPHA:268
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Fetal Trimethadione Syndrome	Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Intrauterine growth retard...	ORPHA:1913
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Primary Sjögren Syndrome	Increased circulating antibody level, Optic neuritis, Bronchitis, Cutis marmorata, Erythema nodos...	ORPHA:289390
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Congestive heart failure, Generalized abnormality of skin, Hepatomega...	ORPHA:367
Pallister-Hall-Like Syndrome	Short ribs, Postaxial hand polydactyly, Micromelia, Micrognathia, Toe syndactyly, Postaxial foot ...	OMIM:241800
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension	ORPHA:217563
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Bicornuate uterus, Renal hypoplasia,...	OMIM:219000
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Respiratory distress, Hypertrophic cardiomyopathy, Flexion co...	OMIM:619383
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Angina pectoris, Increased LDL cholesterol concentration, Hypertension, Hyp...	ORPHA:391665
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Ziegler-Huang Syndrome	Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Hypogonadism, Crypto...	OMIM:620501
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Facial diplegia, Impotence, Cognitive im...	ORPHA:273
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
46,Xy Sex Reversal 1	Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo...	OMIM:400044
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri...	OMIM:617866
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Chromosome 9P Deletion Syndrome	Perimembranous ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, At...	OMIM:158170
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Polyhydramnios, Hypospadias, Osteoporosis, Bilateral cryptorchidism, Short stature, Growth delay,...	OMIM:300998
Parathyroid Carcinoma	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:143
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis	OMIM:146200
Trisomy 1Q	Hydrops fetalis, Polyhydramnios, Congenital megaureter, Cryptorchidism, Increased nuchal transluc...	ORPHA:261344
Thyrocerebroretinal Syndrome	Goiter, Nephritis	OMIM:274240
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morpholog...	OMIM:188400
49,Xxxxy Syndrome	Chronic otitis media, Renal hypoplasia/aplasia, Small scrotum, Azoospermia, Hypoplasia of penis, ...	ORPHA:96264
Weaver Syndrome	Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Broad thumb, Camptodactyly of fing...	ORPHA:3447
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Severe postnatal growth ret...	ORPHA:2237
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Neonatal death, Pulmonary hypoplasia,...	OMIM:615524
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Micropenis, Unilateral renal agenesis, Cryptorchidism	OMIM:618504
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Hematuria, Vasculitis, Skin rash, Hyperten...	ORPHA:1855
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Respiratory distress	ORPHA:238329
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Netherton Syndrome	Emphysema, Ectopic kidney, Skin rash, Decreased circulating antibody level, Dehydration, Increase...	ORPHA:634
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Methylm...	OMIM:251110
Cushing Disease	Hypertension, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pituitary c...	ORPHA:96253
Sanjad-Sakati Syndrome	Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of pe...	ORPHA:2323
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia, Respiratory distress, Infertility, Nasal polyposis, Sinusit...	OMIM:606763
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Intellectual Developmental Disorder, Autosomal Recessive 79	Oligomenorrhea, Ventricular septal defect, Eczematoid dermatitis	OMIM:620393
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Precocious puberty, Hypothyroidism, Obesity, Failure to th...	ORPHA:819
Aromatic L-Amino Acid Decarboxylase Deficiency	Intermittent hypothermia, Hypotension, Temperature instability	OMIM:608643
Shashi-Pena Syndrome	Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Osteoporosis, Patent ductus arteriosu...	OMIM:617190
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Infection-Related Hemolytic Uremic Syndrome	Hypertension, Hypertensive crisis, Oliguria, Edema, Myocarditis, Acute kidney injury, Hypocalcemi...	ORPHA:544482
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Gray matter heterotopia, Increased mean platelet volume, Ventricular arrhy...	OMIM:620475
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Familial Glucocorticoid Deficiency	Tall stature, Ketotic hypoglycemia, Decreased circulating dehydroepiandrosterone concentration, H...	ORPHA:361
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Spider hemangioma, Ascites, Splenomegaly, Polyclonal elevation of IgM...	ORPHA:171
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Recurrent infections, Cholestasis, Hydro...	ORPHA:541423
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hydrops fetalis, Polycystic kidney dysplasia, Ascites, Hypocholesterolemia, Pericar...	OMIM:608776
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Joint hypermobility, Knee osteoarthritis, Ventricular hypertrophy, Transient ...	OMIM:619656
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Colpocephaly, Lateral ventricle dilatation, Cardiomegaly, Splenic cy...	OMIM:620371
Hennekam-Beemer Syndrome	Hypotension, Mastocytosis, Telangiectasia of the skin, Arrhythmia	ORPHA:2135
Nemaline Myopathy 9	Polyhydramnios, Ventricular septal defect, Arthrogryposis multiplex congenita	OMIM:615731
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Exertional dyspnea, Hypertrophic cardiomyopathy, Glycosuria, Hyperphosphaturia, Pro...	ORPHA:436271
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Vasculitis, Pleural...	ORPHA:33226
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:617516
Pagod Syndrome	Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl...	ORPHA:991
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Decreased response to growth hormone ...	ORPHA:94065
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	ORPHA:178320
Kinsship Syndrome	Osteopenia, Death in infancy, Short stature, Renal hypoplasia, Horseshoe kidney	OMIM:619297
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Exertional dyspnea, Ventricular hypertrophy, Hypertension, Female h...	ORPHA:740
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Death in childhood, Impotence, Incre...	OMIM:268800
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Urinary inco...	ORPHA:79276
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Chy...	ORPHA:538
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Decreased response to growth hormone stimulation test, Decreased testicular...	ORPHA:457240
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ...	ORPHA:488632
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Hydronephrosis, Limb joint contracture, Patent ductus arteriosus, Intrauter...	OMIM:620327
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Short statu...	OMIM:191900
Cat Eye Syndrome	Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Renal agenesis...	OMIM:115470
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Growth delay, Hydronephrosis, Displacement of the urethral m...	ORPHA:1727
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Myosi...	ORPHA:99845
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Diamond-Blackfan Anemia 10	Ectopic kidney, Respiratory distress, Short stature, Growth delay, Renal duplication, Patent duct...	OMIM:613309
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein ...	ORPHA:449563
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Atri...	OMIM:220500
Congenital Myopathy 11	Polyhydramnios, Patent foramen ovale, Apneic episodes in infancy, Patent ductus arteriosus, Atria...	OMIM:619967
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:614399
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Kawasaki Disease	Cheilitis, Skin rash, Pericarditis, Edema, Cholecystitis, Myocarditis, Jaundice, Vasculitis, Doub...	ORPHA:2331
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Fg Syndrome Type 1	Pulmonary arterial hypertension	ORPHA:93932
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial hand polydactyly, Limb undergrow...	OMIM:619143
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Nocturnal hypoventilation, Exercise-induced myoglobinuria, Elevated circulating creatine kinase c...	OMIM:607155
Cystic Fibrosis	Absent vas deferens, Steatorrhea, Decreased body mass index, Elevated circulating hepatic transam...	ORPHA:586
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatome...	OMIM:256040
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri...	OMIM:106300
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Flexion contracture of toe, Talipes equinovarus, Shoulder ...	OMIM:255800
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, P...	OMIM:616564
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Postaxial polydactyly, Obesity, Hypogonadism, Rod-cone dystr...	OMIM:615985
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia	OMIM:613759
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Eczematoid dermatitis, Short stature, Congenital contracture...	ORPHA:352490
Mucopolysaccharidosis Type 3	Chronic otitis media, Reduced bone mineral density, Joint stiffness, Abnormal mitral valve morpho...	ORPHA:581
Refsum Disease	Cardiomyopathy, Heart block, Renal insufficiency, Splenomegaly	ORPHA:773
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp...	OMIM:617093
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptor...	OMIM:615597
Lesch-Nyhan Syndrome	Hyperuricemia, Hematuria, Gout, Renal insufficiency	ORPHA:510
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Tall stature, Clitoral hypertrophy, Abnormal...	ORPHA:90794
C Syndrome	Clitoral hypertrophy, Hepatomegaly, Fused sternal ossification centers, Renal cortical cysts, Cry...	OMIM:211750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Plasminogen Deficiency, Type I	Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis, Nephritis, Recurr...	OMIM:217090
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Clubbing, Cholestasis, Intra...	OMIM:615486
Noonan Syndrome 9	Prolonged prothrombin time, Hydroureter, Cryptorchidism, Pulmonic stenosis, Short stature, Ventri...	OMIM:616559
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Advanced ossification of carpal bones, Pathologic fracture, Osteoporosis, Fragile skin, Delayed p...	OMIM:271640
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Pancreatic cysts, Portal...	OMIM:267010
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension	OMIM:265120
Phosphoserine Aminotransferase Deficiency	Hyposerinemia, Cyanotic episode, Death in infancy, Hypoglycinemia, Apnea	OMIM:610992
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Supernumerary nipple, Hypospadias, Early ossification of capital femor...	ORPHA:397715
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Skin rash, Dyspnea, Multiple pulmonary cysts, Eczematoid dermatiti...	ORPHA:79128
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hammertoe, Pol...	OMIM:261515
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia	OMIM:207731
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Muscle...	ORPHA:369840
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Hypertension, Impaired glucose tolerance, Adrenal hyperp...	ORPHA:99889
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac...	OMIM:617895
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Decreased response to growth hormone stimulation test, External genita...	ORPHA:177907
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hypoplasia of the ovary, Short stature, Renal hypoplasia, Decreased testicular size, Fl...	OMIM:619321
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,...	ORPHA:2839
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Tubular luminal dilatation, Hyperechogenic kidneys, Ventricular septal defect, Re...	OMIM:219730
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Weight loss, Ga...	ORPHA:67
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections	ORPHA:3348
Joubert Syndrome 14	Hypertension, Ventricular septal defect, Intracranial hemorrhage	OMIM:614424
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Neuroblastoma, Susceptibility To, 1	Hypertension, Anemia	OMIM:256700
Pmm2-Cdg	Reduced thyroxin-binding globulin, Pericarditis, Multiple renal cysts, Joint hypermobility, Anasa...	ORPHA:79318
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Cor pulmonale, Hematuria	OMIM:158310
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Ankle flexion contracture, Myoglobinuria, Elbow flexion contracture, Cardiomyopathy, Wrist flexio...	ORPHA:206549
Opitz Gbbb Syndrome	Hypospadias, Tracheomalacia, Patent foramen ovale, Vesicoureteral reflux, Bifid scrotum, Bicornua...	ORPHA:2745
Leptospirosis	Hyperproteinemia, Acute kidney injury, Hepatomegaly, Jaundice, Respiratory distress, Optic neurit...	ORPHA:509
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Prolonged neonatal jaundice, Abnormal heart morpholog...	ORPHA:821
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Perimembranous ventricular septal defect, Hepatomegaly, Fused cervi...	ORPHA:83617
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	OMIM:611126
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypog...	ORPHA:141333
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Peripheral pulmonary artery stenosis, P...	ORPHA:163956
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Ascites, Biliary hyperplasia, Splenom...	ORPHA:731
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Inguinal hernia, Bifid scrotum, Ectroda...	ORPHA:397590
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Abnormality of the female genitalia, Hematuria, Recurrent respiratory infections, Dyspnea, Aspira...	ORPHA:1018
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Ascites, Abnorm...	ORPHA:79124
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Adrenomyodystrophy	Reduced bone mineral density, Failure to thrive, Primary adrenal insufficiency, Megacystis, Hepat...	ORPHA:977
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Delayed ossification of carpal bon...	OMIM:140000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Distal Deletion 10Q	Postnatal growth retardation, Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional ab...	ORPHA:96148
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting	OMIM:612089
Hurler Syndrome	Angina pectoris, Hypertension, Cardiomyopathy, Splenomegaly	ORPHA:93473
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Hepatomegaly, Apnea, Low plasma citrulline, Cyanosis, Ketonuria	OMIM:261680
Mosaic Trisomy 16	Maternal diabetes, Hypospadias, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hy...	ORPHA:1708
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Megalencephaly	Atrial septal defect, Macroorchidism, Long penis	ORPHA:2477
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s...	ORPHA:331235
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine...	ORPHA:324964
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Polyuria, Hepatomegaly, Proximal tubulopathy, Osteoporosis, Failure to thrive, Type I di...	OMIM:560000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Polyhydramnios, Carpal osteolysis, Limitation of joint mobility, Camptodac...	ORPHA:2774
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Cy...	ORPHA:488627
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Marshall-Smith Syndrome	Hypertension, Premature ventricular contraction, Pulmonary arterial hypertension, Pachygyria, Pat...	OMIM:602535
Marfan Syndrome	Limited elbow movement, Reduced bone mineral density, Cachexia, Arachnodactyly, Disproportionate ...	ORPHA:558
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Renal hypoplasia/aplasia, Abnormality of the ureter, Short stature, Polycysti...	ORPHA:1770
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Hyperlipidemia, Portal hypertension, Splenomegaly, Abnormal circulating fatty-acid ...	ORPHA:567983
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Camptodactyly, Growth delay, Ventricular septal defect, Aortic valv...	OMIM:619980
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Vesicoureteral reflux, Short stature, Right ventricular hypertrophy, Atrial...	OMIM:614261
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Hypergonadotropic...	OMIM:241080
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Cryptorchidism, Hydronephrosis, Subcutaneous lipoma, Atrial septal defect, Ventric...	OMIM:613001
Coffin-Siris Syndrome	Postnatal growth retardation, Hypospadias, Papillary thyroid carcinoma, Aspiration pneumonia, Cry...	ORPHA:1465
Meier-Gorlin Syndrome 7	Meconium peritonitis, Clitoral hypertrophy, Heart block, Hypospadias, Breast aplasia, Vesicourete...	OMIM:617063
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Aplasia/Hypoplasia of the vertebrae, Abnormal ilium morphology, Abn...	ORPHA:168549
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Waardenburg Syndrome Type 3	Atelectasis, Tracheomalacia, Synostosis of carpal bones, Joint stiffness, Camptodactyly of finger...	ORPHA:896
Noonan Syndrome	Abnormal platelet function, Joint hypermobility, Dilatation of the renal pelvis, Abnormal bleedin...	ORPHA:648
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Abnormal heart ...	ORPHA:494344
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Dyspnea, Hypertrophic cardiomyopathy, Mitochondrial swelling, Abnormal heart mor...	OMIM:618250
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Sonoda Syndrome	Short stature, Ventricular septal defect	OMIM:270460
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Patent ductus arteriosus, Respiratory distress, Dysplastic pulmonar...	OMIM:612863
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Cranial hyperostosis, Osteopetrosis, External genital hypoplasia, Abnormal cortical b...	ORPHA:2658
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad...	OMIM:613684
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol...	ORPHA:3121
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microretrognathi...	ORPHA:2994
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Joint hypermobility, Inguinal hernia, Shor...	OMIM:618363
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ...	OMIM:610921
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of middle finger phalanx, Coarse metaphysea...	ORPHA:85188
Microcephaly-Cardiomyopathy Syndrome	Short stature, Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation	ORPHA:2515
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Trichohepatoenteric Syndrome 1	Hepatomegaly, Abnormality of iron homeostasis, Hypospadias, Galactosuria, Aortic regurgitation, P...	OMIM:222470
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Bohring-Opitz Syndrome	Annular pancreas, Fixed elbow flexion, Cardiomegaly, Cholelithiasis, Bradycardia, Limitation of j...	ORPHA:97297
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Hypoglycemia, Intracranial hemorrhage, Telangiectasia	ORPHA:109
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po...	OMIM:217085
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepati...	OMIM:607765
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, Rickets of the lower limbs, ...	ORPHA:289176
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Respiratory distress, Increased serum pyruvate, Cardiac arrest, Hypertrophic cardio...	OMIM:604377
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Mosaic Trisomy 1	Polyhydramnios, Renal cortical cysts, Elbow flexion contracture, Pulmonary artery atresia, Renal ...	ORPHA:1692
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis	ORPHA:3318
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Erythema, Camptodactyly of fi...	ORPHA:2092
Gaucher Disease, Perinatal Lethal	Purpura, Hepatomegaly, Polyhydramnios, Respiratory distress, Petechiae, Ascites, Neonatal death, ...	OMIM:608013
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Orthostatic hyp...	ORPHA:186
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Dyspnea, Respiratory distress	ORPHA:1832
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Failu...	OMIM:613501
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Crumpled long bones, Tibial bowing, Abnormal p...	OMIM:166210
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Short long bone, Short ribs, Bowing of the long bones, Camptodactyl...	OMIM:224400
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Secundum atrial septal defect, Short stature, Cryptorchidism	OMIM:601321
Aneurysm-Osteoarthritis Syndrome	Pulmonic stenosis, Arachnodactyly, Disproportionate tall stature, Abnormal heart morphology, Left...	ORPHA:284984
15Q Overgrowth Syndrome	Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hypertension	ORPHA:314585
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di...	OMIM:619451
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction	OMIM:213700
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R...	ORPHA:237
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Tetrasomy 15Q26	Camptodactyly, Hydronephrosis, Patent ductus arteriosus, Intrauterine growth retardation, Atrial ...	OMIM:614846
Achondrogenesis Type 2	Delayed pubic bone ossification, Short long bone, Short ribs, Hypoplastic ilia, Micromelia, Delay...	ORPHA:93296
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Neutropenia, Patent ductus arteriosus, Bradycardia	OMIM:617248
Desmosterolosis	Ambiguous genitalia, male, Elevated circulating desmosterol concentration, Rhizomelia, Abnormal c...	OMIM:602398
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm...	ORPHA:3427
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Respiratory distress, Chylothorax, Lymphedema, Pleural effusion, A...	OMIM:617300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr...	OMIM:314300
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Cockayne Syndrome A	Hypertension, Splenomegaly, Hypogonadism, Intrauterine growth retardation, Short stature, Ivory e...	OMIM:216400
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:261120
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chr...	ORPHA:261222
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Stt3B-Cdg	Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Micropenis	ORPHA:370924
Coach Syndrome 1	Hypertension, Splenomegaly, Portal hypertension	OMIM:216360
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Hypospadias, Short metacarpal, Congenital hypothyroidism, Short phalanx of fing...	OMIM:614613
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect	OMIM:122850
Brody Disease	Percussion myotonia, Myotonia	OMIM:601003
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Acne, Ameno...	ORPHA:2795
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Broad thumb, Mesomelia, Rhizomelia, Brachydactyly	ORPHA:171866
Von Hippel-Lindau Disease	Myocarditis, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Retinal detachment, Pancreatic...	ORPHA:892
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Increased serum testosterone level, Capillary leak, Hemorrhagic ovarian cyst, Pl...	ORPHA:64739
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Osteopenia, Calcinosis, Reduced bone mineral density, Metaphyseal striati...	ORPHA:2909
Nephrogenic Diabetes Insipidus	Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia, Nephrogenic diabetes ...	ORPHA:223
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Recurrent lower respiratory tract infections, Limb hypertonia, Vasculi...	OMIM:615846
Holocarboxylase Synthetase Deficiency	Perioral eczema, Respiratory distress, Organic aciduria, Keratoconjunctivitis, Eczematoid dermati...	ORPHA:79242
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased circulatin...	OMIM:615947
Temple Syndrome	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Short foot...	ORPHA:254516
Hajdu-Cheney Syndrome	Delayed puberty, Osteopenia, Hepatomegaly, Hypospadias, Periodontitis, Decreased skull ossificati...	ORPHA:955
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Joint hypermobility, Ventricular septal defect, Cutis marmorata	OMIM:602501
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Dextrocardia, Inguinal hernia, Ventricular septal de...	OMIM:616145
Kapur-Toriello Syndrome	Hypoplastic labia majora, Cryptorchidism, Camptodactyly of finger, Micropenis, Patent ductus arte...	OMIM:244300
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Camptodactyly, Short stature	OMIM:618529
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Repeated pneumothoraces, Camptodactyly, Cryptorchidism, Short stature, Cutis marmora...	OMIM:617602
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hyp...	ORPHA:93111
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Aplasia of the uterus, Growth delay, Renal hypoplasia, Bone marrow hyp...	OMIM:614083
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Coarse metaphyseal trab...	ORPHA:1782
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul...	OMIM:620185
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Hypothermia, Orthostatic hypotension, Temperature instability	ORPHA:99027
Holoprosencephaly	Anterior hypopituitarism, Hypoplasia of penis, Diabetes insipidus, Aplasia/Hypoplasia of the lung...	ORPHA:2162
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Myoglobinuria, Elevated circulating creatine kinase co...	OMIM:609015
Japanese Encephalitis	Pulmonary edema, Stiff neck, Increased circulating antibody level, Respiratory distress, Elbow fl...	ORPHA:79139
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Elevated circulating C-reactive protein concentration, Hypoc...	ORPHA:247353
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Miscarriage, Vesicoureteral reflux, Synostosis o...	ORPHA:2438
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Oliguria...	ORPHA:514
Celiac Disease, Susceptibility To, 1	Rickets, Delayed puberty, Steatorrhea, Elevated circulating hepatic transaminase concentration, T...	OMIM:212750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Ulbright-Hodes Syndrome	Postnatal growth retardation, Pneumothorax, Clitoral hypertrophy, Enlarged labia minora, Maternal...	ORPHA:3404
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat...	ORPHA:402075
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, A...	ORPHA:411629
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Delayed puberty, Multiple joint contractures, EMG: myopathic abnormalities, Cryptorchidism, Limb ...	ORPHA:486815
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Bowed humerus, Metaphysea...	OMIM:618019
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Anemia, Iron deficiency anemia, Decreased circulating antibody level, Budd-Ch...	OMIM:226300
Tempi Syndrome	Abnormality of the pulmonary vasculature, Transudative pleural effusion, Intracranial hemorrhage,...	ORPHA:284227
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Lymphedema, Ectopic ossification in musc...	ORPHA:2485
Occipital Horn Syndrome	Large iliac wing, Cholestasis, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobili...	ORPHA:198
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Sho...	OMIM:227645
Kury-Isidor Syndrome	Growth delay, Hydronephrosis, Ventricular septal defect, Recurrent otitis media	OMIM:619762
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Osteopenia, Renal neoplasm, Atelectasis, Craniosynostosis, Repeated...	ORPHA:536467
Dermatomyositis	Myocarditis, Vasculitis, Abnormal eosinophil morphology, Sinus tachycardia, Pulmonary arterial hy...	ORPHA:221
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Increased serum bil...	OMIM:602347
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Recurrent Respiratory Papillomatosis	Atelectasis, Tracheomalacia, Failure to thrive, Abnormal lung morphology, Recurrent pneumonia, Re...	ORPHA:60032
Lymphatic Malformation 13	Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus	OMIM:620244
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Neuroblastoma	Abnormal bleeding, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, ...	ORPHA:635
Curry-Jones Syndrome	Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, Preaxial hand pol...	ORPHA:1553
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Dil...	OMIM:614299
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Hydroxyprolinuria, Osteolysis	OMIM:174810
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Leigh Syndrome	3-Methylglutaconic aciduria, Congestive heart failure, Multiple joint contractures, Generalized a...	ORPHA:506
Osteopathia Striata-Cranial Sclerosis Syndrome	Osteopetrosis, Increased bone mineral density, Aortic valve stenosis, Coarse metaphyseal trabecul...	ORPHA:2780
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Vesicoureteral reflux, Pulmonary artery atresia, Tricuspid regurgitation, C...	OMIM:616894
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular patte...	ORPHA:2032
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent candida infections, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis,...	ORPHA:572
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short phalanx of...	OMIM:600430
Shwachman-Diamond Syndrome 1	Hepatomegaly, Respiratory distress, Irregular ossification at anterior rib ends, Myocardial necro...	OMIM:260400
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth	ORPHA:1861
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Respiratory distress	ORPHA:89844
Lamellar Ichthyosis	Chronic otitis media, Dehydration, Short stature, Erythroderma, Recurrent respiratory infections,...	ORPHA:313
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Rubinstein-Taybi Syndrome 1	Premature thelarche, Mitral valve prolapse, Joint hypermobility, Perimembranous ventricular septa...	OMIM:180849
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Spontaneous hematomas, Abnormal platelet function, Sinusitis, ...	ORPHA:906
Poliomyelitis	Hypovolemic shock, Fatigable weakness of respiratory muscles, Hypertension, Hypotension	ORPHA:2912
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Short stature, Neonatal death...	OMIM:620024
Geleophysic Dysplasia 1	Congestive heart failure, Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve steno...	OMIM:231050
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Genu valgum, Myotonia of the upper limb, Metatarsus adductus, Decreased anteri...	ORPHA:3101
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Atrial septal defect, Abnormal concentration of acy...	ORPHA:51208
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:119
Chromosome 10Q26 Deletion Syndrome	Postnatal growth retardation, Limited elbow extension, Vesicoureteral reflux, Short stature, Pate...	OMIM:609625
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ...	ORPHA:96182
Craniofrontonasal Dysplasia	Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Camptodactyly of finger, Hand poly...	ORPHA:1520
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hypermobility, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion ...	ORPHA:284417
Dyskeratosis Congenita, Autosomal Recessive 8	Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia	OMIM:620133
Spastic Paraplegia Type 2	Pulmonary embolism	ORPHA:99015
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Craniosynostosis, Patent foramen ovale, Bicuspid pulmonary valve, Spon...	OMIM:610168
Myotonia, Potassium-Aggravated	Percussion myotonia, Handgrip myotonia, Myotonia	OMIM:608390
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Recurrent otitis media, Excessive wrinkled skin, Prematurely aged appearance, Short stature, Grow...	OMIM:619950
Fetal Minoxidil Syndrome	Ventricular septal defect, Cryptorchidism	ORPHA:1918
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Microcephaly-Micromelia Syndrome	Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi...	OMIM:251230
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension, Impotence	ORPHA:93256
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia...	OMIM:610913
Feingold Syndrome Type 2	Short stature, Ventricular septal defect	ORPHA:391646
Joubert Syndrome 33	Syndactyly	OMIM:617767
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Reduced bone mineral density, Left-to-right shunt, Left ventricular hypertrophy, Retinopathy of p...	OMIM:620510
Codas Syndrome	Short stature, Joint hypermobility, Ventricular septal defect, Hydroureter	ORPHA:1458
19Q13.11 Microdeletion Syndrome	Hypospadias, Bifid scrotum, Cryptorchidism, Growth delay, Intrauterine growth retardation, Recurr...	ORPHA:217346
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Obesity, Nephrocalcinosis, Brachydactyly, Recurrent respi...	OMIM:615633
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension	OMIM:254940
Cousin Syndrome	Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca...	OMIM:260660
Short Stature-Micrognathia Syndrome	Penoscrotal hypospadias, Rhizomelia, Small scrotum, Cryptorchidism, Short stature, Intrauterine g...	OMIM:617164
Kabuki Syndrome 2	Postnatal growth retardation, Atrioventricular canal defect, Recurrent otitis media, Pulmonic ste...	OMIM:300867
Papa Syndrome	Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Limitation of joint m...	ORPHA:69126
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension	ORPHA:464738
Potocki-Lupski Syndrome	Abnormal renal morphology, Patent foramen ovale, Hypocholesterolemia, Short stature, Hypothyroidi...	OMIM:610883
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Donnai-Barrow Syndrome	Ventricular septal defect, Non-acidotic proximal tubulopathy, Proteinuria, Bicornuate uterus	OMIM:222448
Immunodeficiency 116	Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory...	OMIM:608957
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Polyhydramnios, Unilateral renal agenesis, Hypospadias, Aortic regurgi...	ORPHA:464311
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis	ORPHA:48104
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Pes cavus, Chronic oral candidiasis, Unilateral renal agenesis, Clinodactyly of the 2...	ORPHA:221139
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent respiratory infections, Re...	OMIM:613493
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Acromicria, Short foot, Precocious puberty, Obesity, Micrognathia, Abnormal heart morphology, Cli...	ORPHA:254525
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Vesicoureteral reflu...	OMIM:619103
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender long bone, Recurrent bacterial i...	OMIM:244460
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections	OMIM:613494
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,...	ORPHA:3342
Wilson Disease	Ascites, Splenomegaly, High nonceruloplasmin-bound serum copper, Joint hypermobility, Edema, Jaun...	OMIM:277900
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Muscular ventricular septal defect	OMIM:618569
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndactyly, 2-4 finger syndact...	OMIM:613573
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Colitis	OMIM:301220
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Patent ductus arteriosus, Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of th...	ORPHA:163979
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Micro...	ORPHA:1865
Noonan Syndrome 13	Limited elbow extension, Recurrent otitis media, Duplicated collecting system, Lymphedema, Mitral...	OMIM:619087
Fucosidosis	Hepatomegaly, Vascular skin abnormality, Mucopolysacchariduria, Hypothyroidism, Acrocyanosis, Car...	ORPHA:349
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Galactosuria, Recurrent respiratory infections, Enuresis nocturna, ...	ORPHA:251061
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Tarsal synostosis, Patent ductus arteriosus, Glandula...	ORPHA:2473
Craniopharyngioma	Optic atrophy, Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Recurrent i...	ORPHA:54595
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e...	OMIM:619632
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th...	OMIM:617666
Silver-Russell Syndrome	Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr...	ORPHA:813
7Q11.23 Microduplication Syndrome	Chronic otitis media, Unilateral renal agenesis, Hypospadias, Tracheomalacia, Enuresis, Cryptorch...	ORPHA:96121
Fucosidosis	Hepatomegaly, Petechiae, Glycopeptiduria, Short stature, Splenomegaly, Flexion contracture, Angio...	OMIM:230000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Perimembranous ventricular septal defect, Hypospadias, Cryptorchidi...	OMIM:301040
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Polyhydramnios, Atopic dermatitis, Tetralo...	OMIM:618624
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell...	ORPHA:2234
Gm1 Gangliosidosis	Congestive heart failure, Hydrops fetalis, Cardiomyopathy, Aspiration pneumonia, Short stature, C...	ORPHA:354
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Acrocardiofacial Syndrome	Hypospadias, Hypoplasia of penis, Truncus arteriosus, Death in infancy, Cryptorchidism, Camptodac...	ORPHA:2008
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness, fatigue, stress, Sud...	OMIM:254210
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl...	OMIM:101600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Polyhydramnios, Vesicoureteral reflux, Ureteral hypoplasia, Hydronephrosis,...	OMIM:614080
Osteogenesis Imperfecta	Reduced bone mineral density, Decreased skull ossification, Mitral valve prolapse, Joint hypermob...	ORPHA:666
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Anemia, Transient hypophosphatemia	OMIM:127000
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Hypoxemia, Splenomegaly, Enlarged lacrimal glands, Bone cys...	OMIM:181000
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic regurgitation, Hypertension, Ventricular hypertrophy, Aortic valve stenos...	OMIM:208050
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Osteopenia, Respiratory distress, Cyst of the ductus choledochus, Hypoplastic ni...	ORPHA:480880
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Failure to thrive, Recurrent viral infections, Hashimoto thyroiditis, R...	ORPHA:275
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Death in infancy, Patent ductus arteriosus, Ambig...	ORPHA:452
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Hepatomegaly, External genital hypoplasia, Polyhydramnios, Respiratory distress, Elev...	ORPHA:329178
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Punctate vasc...	OMIM:192315
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Multiple joint c...	ORPHA:464306
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Absent sternal ossification, Short ribs, Joint hypermobility, Coxa valga, G...	OMIM:224690
Campomelic Dysplasia	Neonatal short-limb short stature, Polyhydramnios, Hypospadias, Disproportionate short-limb short...	OMIM:114290
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst	ORPHA:2357
Tarp Syndrome	Subdural hemorrhage, Hydronephrosis, Tetralogy of Fallot, Neonatal death, Intrauterine growth ret...	OMIM:311900
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Aortic regurgitation, Craniosynostosis, Absent gallbladder, ...	OMIM:617140
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Dyspnea, Microscopic hematuria, Thickened glomerular basement membrane, A...	OMIM:308940
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Retinal degeneration, Diabetes mellitus	OMIM:277700
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Central ...	ORPHA:93352
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin...	OMIM:605258
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Arthritis, Hyperuricemi...	ORPHA:411536
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly, Cranial hyperostosis	OMIM:612918
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Hypospadias, Bicoronal synostosis, Tracheobronchomalacia, Patent fo...	OMIM:619184
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat...	ORPHA:405
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Hypertension, Transient hyperphenylalaninemia	ORPHA:98808
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Abnormal aortic valve morphology, Microscopic hematuria, Proteinuria, Patent duct...	ORPHA:86818
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesi...	OMIM:130650
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under...	ORPHA:453510
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Myotonia of the ...	ORPHA:99734
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han...	OMIM:252100
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a...	ORPHA:247768
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha...	ORPHA:264200
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:2282
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplenomegaly,...	ORPHA:210110
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Abnormal salivary gland morphology, Lacrimal gland aplasia, Arthritis...	ORPHA:2363
4Q21 Microdeletion Syndrome	Micromelia, Short palm, Toe syndactyly, Short foot, Small hand	ORPHA:238750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus	OMIM:619351
Atelis Syndrome 1	Eczematoid dermatitis, Hypothyroidism, Bronchiectasis, Atrial septal defect, Ventricular septal d...	OMIM:620184
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe...	ORPHA:251071
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Pericardial effusion, Bronchiectasis	ORPHA:411703
Feingold Syndrome 2	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:614326
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Respiratory distress	OMIM:617977
Snijders Blok-Campeau Syndrome	Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Joint hypermob...	OMIM:618205
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Hematuria, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrh...	ORPHA:79
Microphthalmia With Linear Skin Defects Syndrome	Clitoral hypertrophy, Severe short stature, Mitral valve prolapse, Abnormal cardiac septum morpho...	ORPHA:2556
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Hemolytic-uremic syndrome, Reduced haptoglobin level, Schistocytosis, Moderate proteinuri...	OMIM:301110
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Cornelia De Lange Syndrome	Delayed puberty, Hypoplasia of penis, Joint stiffness, Cutis marmorata, Intrauterine growth retar...	ORPHA:199
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Severe postnatal growth retardation, Portal hypertension, Hepat...	ORPHA:440713
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Alkaptonuria	Reduced bone mineral density, Hypertension, Aortic valve stenosis, Joint stiffness, Dark urine, B...	ORPHA:56
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cys...	OMIM:257300
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Atrial septal defect, Palmoplantar...	OMIM:618499
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Increased serum pyruvate, Hyperalaninemia, Growth delay, Hypothyroidism, Mild...	OMIM:619147
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Bilateral lung agenesis, Ovotestis, Renal agenesis, Pulmonary artery stenosis, Conge...	OMIM:611812
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Scarring, Hernia, Inguinal hernia, Hiatus hernia, Osteomalacia, Osteoporosis...	ORPHA:1901
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory distress	ORPHA:254875
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Hepatomegaly, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Pulmonary art...	ORPHA:2785
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619232
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Petechiae, Death in infancy, Ethylmalonic ac...	OMIM:602473
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph...	ORPHA:710
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Fai...	OMIM:619377
Blau Syndrome	Large vessel vasculitis, Anemia, Hypertension, Pulmonary arterial hypertension, Pericarditis, Spl...	ORPHA:90340
Cockayne Syndrome B	Postnatal growth retardation, Hepatomegaly, Death in childhood, Renal insufficiency, Cutaneous ph...	OMIM:133540
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Growth delay, Elevated creatine kinase after ex...	ORPHA:57
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory...	ORPHA:284426
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Chalazion, Pulmonary arterial hypertension, Short stature, Secundum...	OMIM:613355
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Polymicrogyria...	OMIM:618820
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Patent foramen ovale, Hypotension, Increased nuchal translucency, P...	OMIM:615668
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Hypocalcemia, Increased bo...	OMIM:259700
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly	ORPHA:251046
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Bardet-Biedl Syndrome 21	Retinal thinning, Elevated circulating hepatic transaminase concentration, Hyperautofluorescent m...	OMIM:617406
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Emphysema, Portal hypertension, Pulmonary fibrosis, Type I diabetes mellitus, Cryptor...	OMIM:620365
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Cervical insufficiency, ...	OMIM:130050
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Hypo...	ORPHA:79102
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hepatomegaly, Oroticaciduria, Pancreatitis, Recurre...	OMIM:222700
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Increased body weight, Congenital hip dislocation, Congenital hypothyroidi...	OMIM:614450
Fumarase Deficiency	Bilateral fetal pyelectasis, Perimembranous ventricular septal defect, Polyhydramnios, Hyperbilir...	OMIM:606812
Kallmann Syndrome	Decreased fertility, Pes cavus, Delayed puberty, Reduced bone mineral density, Erectile dysfuncti...	ORPHA:478
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, S...	OMIM:300661
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Hepatomegaly, Osteolysis, Fused cervical vertebrae, Elevated circulating...	OMIM:612852
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Wagro Syndrome	Hypertension	OMIM:612469
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Sepsis, Hepatomegaly, Pneumonia, Anhidrosis, Recurrent viral infections,...	ORPHA:169090
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, Atrial septal defect, Apneic episodes in infancy, Fetal pyelectasis	OMIM:301058
Immunodeficiency 12	Recurrent lower respiratory tract infections, Clubbing, Decreased body weight, Osteoporosis, Recu...	OMIM:615468
Radio-Renal Syndrome	Renal hypoplasia/aplasia, Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Renal age...	ORPHA:3015
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Achilles tendon contracture, Respiratory distress	ORPHA:2596
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Retinal detachment, Seizure, Hypertension, Cerebral i...	ORPHA:394
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
Achondrogenesis Type 1A	Short palm, Micrognathia, Short foot, Micromelia	ORPHA:93299
Cutis Laxa, Autosomal Recessive, Type Iic	Pneumothorax, Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid re...	OMIM:617402
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr...	OMIM:613500
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Abnormality...	ORPHA:1454
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Costello Syndrome	Pneumothorax, Limited elbow movement, Polyhydramnios, Tracheomalacia, Hyperextensibility of the f...	OMIM:218040
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Pulmonary pneumatocele, Hepatomegaly, Elevated circulating C-reactive protein concentration, Mini...	OMIM:620565
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pitui...	ORPHA:251066
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Ring Chromosome 21 Syndrome	Narrow palm, Clinodactyly, Syndactyly, Small hand	ORPHA:1445
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Congenital contracture, Elevated circulating creatine kinase concentration,...	OMIM:615042
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Absent or minimally ossified vertebral bodies, Hydrops fetalis, Disproportionate short-limb short...	ORPHA:93271
Achondrogenesis Type 1B	Micrognathia, Short foot, Talipes equinovarus, Micromelia	ORPHA:93298
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, Tricuspid valve prolapse, Aortic regurgitation, Tricuspid regurgitation, Cryptorchi...	OMIM:601776
Opsismodysplasia	Hypophosphatemia, Renal phosphate wasting	OMIM:258480
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Craniosynostosis, Bowing of the long bones, Failure to...	ORPHA:436
Classical Ehlers-Danlos Syndrome	Cervical insufficiency, Bruising susceptibility, Mitral valve prolapse, Blepharochalasis, Uterine...	ORPHA:287
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Craniosynostosis, Bicuspid pulmonary valve, Camptodactyly, Eosinophili...	OMIM:609192
Mmep Syndrome	Ventricular septal defect, Cryptorchidism	ORPHA:3434
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Wrinkly Skin Syndrome	Osteopenia, Muscular ventricular septal defect, Atrial septal dilatation, Short stature, Intraute...	OMIM:278250
X-Linked Intellectual Disability, Cabezas Type	Pes cavus, Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Inguinal hernia, Cach...	ORPHA:85293
Recombinant 8 Syndrome	Chronic otitis media, Abnormality of the kidney, Hypoplastic male external genitalia, Cryptorchid...	ORPHA:96167
Sapho Syndrome	Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust...	ORPHA:793
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Craniosynostosis, Atri...	ORPHA:261197
Aortic Valve Disease 2	Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao...	OMIM:614823
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Postprandial hyperglycemia	ORPHA:681
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Obesity, Brachydactyly, Short dista...	ORPHA:79445
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Congestive heart failure	OMIM:619259
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Wrist flexion contracture, Elevated circulating creatine kinase concentrati...	OMIM:618733
Filippi Syndrome	Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly, Finger clinodactyly	OMIM:272440
Cryptogenic Organizing Pneumonia	Pneumothorax, Elevated circulating C-reactive protein concentration, Respiratory distress, Dyspne...	ORPHA:1302
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Distal Renal Tubular Acidosis	Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Prox...	ORPHA:18
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Decreased fertility, Pulmonary arterial hypertension	OMIM:615067
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Orthostatic hypotension, Recurrent urinary tract infections, Neurogenic bladder, Ves...	OMIM:191800
Scleromyxedema	Transient ischemic attack, Elevated circulating creatine kinase concentration, Abnormal lung morp...	ORPHA:167635
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Luscan-Lumish Syndrome	Long foot, Recurrent otitis media, Overgrowth, Polycystic ovaries, Obesity, Advanced ossification...	OMIM:616831
Joubert Syndrome 7	Nephronophthisis, Renal cyst, Tachypnea, Stage 5 chronic kidney disease, Central apnea, Episodic ...	OMIM:611560
3Mc Syndrome 1	Postnatal growth retardation, Lambdoidal craniosynostosis, Conjunctival telangiectasia, Growth de...	OMIM:257920
Albers-Schönberg Osteopetrosis	Hypocalcemia, Arthritis, Recurrent fractures, Short stature, Osteoarthritis, Generalized osteoscl...	ORPHA:53
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Situs inversus totalis, Polyhydramnios, Hypoplasia of penis	ORPHA:990
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension	OMIM:601559
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Respiratory distress, Hyperalaninemia, Cerebral ischemia, Hyperammonemia, Acute hyp...	ORPHA:927
Multiple Endocrine Neoplasia Type 1	Hematemesis, Adrenocortical abnormality, Pheochromocytoma, Hypertension, Pituitary growth hormone...	ORPHA:652
Pycnodysostosis	Decreased response to growth hormone stimulation test, Rhizomelia, Disproportionate short-limb sh...	ORPHA:763
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Palpebral edema, Polycystic kidney dysplasia, Vesicoureteral reflux, L...	OMIM:606232
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Hydroureter, Hypospadias, Small scrotum, Hypoplastic labia minora, ...	OMIM:269150
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Renal artery stenosis, Proteinuria, Nephropathy	OMIM:209010
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Short stature, Proteinuria, Joint hypermobility, Renal insufficiency	ORPHA:2715
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Osteoporosis, Cognitive impairment, Pseudohypoparathyroidism,...	OMIM:612463
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Trichothiodystrophy 6, Nonphotosensitive	Cutaneous photosensitivity, Increased bone mineral density, Short stature, Coronal craniosynostos...	OMIM:616943
Seckel Syndrome 9	Clitoral hypertrophy, Polyhydramnios, Recurrent respiratory infections, Recurrent urinary tract i...	OMIM:616777
Aymé-Gripp Syndrome	Postnatal growth retardation, Breast hypoplasia, Limitation of joint mobility, Camptodactyly, Sho...	ORPHA:1272
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Hypospadias, Cer...	ORPHA:444077
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Oculodentodigital Dysplasia	Cranial hyperostosis, Abnormal cortical bone morphology, Hyperostosis, Neurogenic bladder, Campto...	ORPHA:2710
Aarskog-Scott Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa...	ORPHA:915
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation, Intrauterine growth retardation, Atrial septal defect, Ventr...	OMIM:611134
Martin-Probst Syndrome	Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Short stature, Hypothyroidism, Chordee, ...	OMIM:300519
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Flexion contracture	ORPHA:90153
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Growth delay, Left unicoronal synostosis, Atrial septal defect, Peripheral...	OMIM:614749
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Recurrent acute respi...	OMIM:620011
Xp21 Deletion Syndrome	Hypertriglyceridemia, Seizure, Elevated circulating creatine kinase concentration, Primary adrena...	ORPHA:261476
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Bardet-Biedl Syndrome 20	Pancreatitis, Hypercholesterolemia, Bilateral cryptorchidism, Proteinuria, Atrial septal defect, ...	OMIM:619471
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Joint stiffness, Severe short stature, Intrauterine growth retardation,...	ORPHA:2461
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Cryptorchidism, Inter...	ORPHA:1145
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Methylmalonic acidemia, Dextrocardia, Homocystinuria, Cystathioninuria, Stomatitis,...	OMIM:277380
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Polyhydramnios, Mesomelic/rhizomelic limb shortening, Vesicoureteral ref...	OMIM:605039
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Acute kidney injury, Ureteral duplication, Nephronophthisis, Hepatomegaly, Cholangiti...	OMIM:266920
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Hypercalcemia, Splenomegaly, C...	OMIM:618440
Isolated Klippel-Feil Syndrome	Abnormal vertebral segmentation and fusion, Renal hypoplasia/aplasia, Ventricular septal defect, ...	ORPHA:2345
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Slc35A1-Cdg	Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia, Prolonged...	ORPHA:238459
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circ...	OMIM:232800
Myasthenia Gravis	Myositis, Acrocyanosis, Dyspnea, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis, Primary...	ORPHA:589
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Aicardi-Goutières Syndrome	Panniculitis, Myositis, Arthritis, Chilblains, Hypertrophic cardiomyopathy, Short stature, Hypoth...	ORPHA:51
African Trypanosomiasis	Urinary incontinence, Abnormality of the endocrine system, Optic neuritis, Miscarriage, Impotence...	ORPHA:3385
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Tangier Disease	Hypertriglyceridemia, Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy,...	ORPHA:31150
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Bilateral cryptorchidism, Cryptorchidism, Sho...	OMIM:619542
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Polyhydramnios, Respiratory distress	ORPHA:596
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De...	OMIM:201750
Noonan Syndrome 1	Postnatal growth retardation, Male infertility, Abnormal bleeding, Hypospadias, Chylothorax, Lymp...	OMIM:163950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndact...	OMIM:308050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Elevated circulating creatine kinase concentration, Right ventricul...	OMIM:253700
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Yunis-Varon Syndrome	Clitoral hypertrophy, Absent sternal ossification, Hypertension, Cardiomyopathy, Decreased skull ...	ORPHA:3472
Tetrasomy 9P	Abnormal mitral valve morphology, Pericarditis, Multiple renal cysts, Intrauterine growth retarda...	ORPHA:3310
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu...	OMIM:611521
Ohdo Syndrome	Small scrotum, Short stature, Proteinuria, Joint hypermobility, Cryptorchidism	OMIM:249620
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Left ventricular diastolic dysfunction, Abnormal circulating creatine kinase concentration, Eleva...	OMIM:620375
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Ollier Disease	Abnormal metaphysis morphology, Micromelia	ORPHA:296
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Buratti-Harel Syndrome	Atrial septal defect, Recurrent pneumonia, Hypospadias, Cryptorchidism	OMIM:619314
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Lipoma, Cachexia, Abnormal finger morphology, C...	ORPHA:744
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Pericardial effusion, Diabetes mellitus, Mitral valve prolapse	ORPHA:536532
Microgastria-Limb Reduction Defect Syndrome	Abnormal lung lobation, Renal hypoplasia/aplasia, Hepatomegaly, Rectovaginal fistula, Truncus art...	ORPHA:2538
Multiple Osteochondromas	Abnormal femur morphology, Abnormal lower limb bone morphology, Deformed forearm bones, Short lon...	ORPHA:321
Nipah Virus Disease	Recurrent pharyngitis, Hypotension, Infectious encephalitis, Respiratory distress	ORPHA:99825
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Orofaciodigital Syndrome Xiv	Epispadias, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de...	OMIM:615948
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, W...	ORPHA:309031
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Osteoporosis, Irregular tarsal ossification, Short stature, Reduced pancreatic beta...	OMIM:226980
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypoplasia of penis, Cutis marmorata, Intrauterin...	ORPHA:818
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Atri...	OMIM:615279
Neonatal Marfan Syndrome	Lipoatrophy, Tricuspid valve prolapse, Emphysema, Talipes calcaneovarus, Abnormal cardiac ventric...	ORPHA:284979
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly	ORPHA:2107
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Microphthalmia, Syndromic 1	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Recurrent otitis media, Camptodactyly, Growth...	OMIM:309800
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections	OMIM:613502
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis...	OMIM:620449
Cranioectodermal Dysplasia 4	Short stature, Bone marrow hypocellularity, Recurrent pneumonia, Joint hypermobility, Stage 5 chr...	OMIM:614378
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Reduced bone mineral density, Cryptorchidism, Precocious puberty, Cerebral hemorrhage, Proteinuri...	OMIM:616682
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Osteopetrosis, Hepatomegaly, Cranial hyperostosis, Hypocalcemia, Hyperbilirubinemia, ...	OMIM:259720
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Cryptorchidism, Ureteropelvic junction obstruction, Hydronephrosis, Sever...	ORPHA:444072
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Nocardiosis	Pneumothorax, Scleritis, Abnormality of the adrenal glands, Emphysema, Pleuritis, Respiratory dis...	ORPHA:31204
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:201450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Recurrent ot...	OMIM:213980
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology	OMIM:300831
Achondrogenesis, Type Ia	Stillbirth, Hypoplasia of the radius, Hypoplastic sacrum, Talipes equinovarus, Severe limb shorte...	OMIM:200600
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po...	OMIM:615503
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Aicardi-Goutieres Syndrome 1	Purpura, Hepatomegaly, Diabetes insipidus, Petechiae, Vasculitis, Cardiomyopathy, Chilblains, Sho...	OMIM:225750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Cerebral ischemia, Foot polydactyly, Hand polydactyly, Telangiectasia of the s...	ORPHA:60040
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Acrofrontofacionasal Dysostosis	Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S...	ORPHA:1784
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Polyhydramnios, Respiratory distre...	OMIM:617088
Fryns Syndrome	Stillbirth, Ureteral duplication, Polyhydramnios, Hypospadias, Chylothorax, Bifid scrotum, Bicorn...	OMIM:229850
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteolysis, Abnormal cortical bone morphology, Seborrh...	ORPHA:2796
Nail-Patella Syndrome	Limited elbow extension, Hematuria, Nephrotic syndrome, Short stature, Proteinuria, Renal insuffi...	OMIM:161200
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Joint hypermobility, Mitral regurgitation, Left ventricular hypertrophy	OMIM:617168
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Cystic renal dyspl...	OMIM:615415
20Q13.33 Microdeletion Syndrome	Hypospadias, Abnormal cardiac ventricle morphology, Growth delay, Hematochezia, Atrial septal def...	ORPHA:261311
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Azoospermia, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertens...	ORPHA:2072
Menkes Disease	Arterial stenosis, Gastrointestinal hemorrhage, Hypothermia, Intracranial hemorrhage	ORPHA:565
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Hypospadias, Respiratory distress, Hypertension, Bifid scrotum, Prominen...	OMIM:123790
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Labial hypoplasia, Cryptorchidism, Precocious puberty, Ventricular septal defect, Micropenis	OMIM:620073
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	ORPHA:319675
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Hypertension, Short stature, Abnormal heart morphology, Ovarian cyst...	OMIM:311200
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Pheochromocytoma, Neoplasm of the lung, Primary hyperparath...	ORPHA:1332
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Inguinal hernia, Femoral bowing, Decr...	OMIM:248500
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atopic dermatitis, Arthrogryposis multiplex congenita, Pulmonic stenosis, Camptodactyly, Atrial s...	OMIM:614262
Myotonic Dystrophy 1	Atrial flutter, Polyhydramnios, Cholelithiasis, Respiratory distress, Atrial fibrillation, Hypogo...	OMIM:160900
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:90038
Acrootoocular Syndrome	Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Prominent calcaneus, Decreased...	ORPHA:2980
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia, Apnea, Abnormal...	ORPHA:314655
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Absent gallbladder, Cryptorchidism, Short stature, Hydronephrosis, Pat...	OMIM:300712
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Mildly elevated creatine kinase, Respiratory distress, Hepatomegaly, Decreased circulating carnit...	ORPHA:254864
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Respiratory distress, Keratan sulfate excretion in uri...	OMIM:615273
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Conjunctivitis, Recurrent bact...	OMIM:612692
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis...	ORPHA:73
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Tetralogy of Fallot, Recurrent respiratory infections, Ventricular sep...	OMIM:174300
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Pulmonary arterial hypertension	ORPHA:2396
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Type I diabetes...	ORPHA:1133
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, S...	OMIM:619702
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me...	ORPHA:231226
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Cardiofaciocutaneous Syndrome 1	Osteopenia, Polyhydramnios, Hyperextensibility of the finger joints, Hypertrophic cardiomyopathy,...	OMIM:115150
Stromme Syndrome	Stillbirth, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Panniculitis, Emphysema, Jaundice, Bronchitis, Nephrotic syndrome, Bronchiectasis, ...	ORPHA:60
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio...	ORPHA:1435
Diamond-Blackfan Anemia 6	Tracheomalacia, Ventricular hypertrophy, Growth delay, Tetralogy of Fallot, Mitral valve prolapse...	OMIM:612561
Jacobsen Syndrome	Annular pancreas, Eczematoid dermatitis, Aortic valve stenosis, Short stature, Growth delay, Hydr...	ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Decreased response to growth hormone stimulation test, Rhizomelia, Aortic...	OMIM:614114
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Pfeiffer Syndrome Type 3	Tracheomalacia, Respiratory distress, Vesicoureteral reflux, Limitation of joint mobility, Hydron...	ORPHA:93260
Neurooculorenal Syndrome	Postnatal growth retardation, Unilateral renal agenesis, Dextrocardia, Tetralogy of Fallot with p...	OMIM:620305
Rett Syndrome	Increased serum pyruvate, Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis	ORPHA:778
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Ventricular septal defect, Rhizomelia, Decreased skull ossification	ORPHA:93267
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Carney Complex	Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Hyperten...	ORPHA:1359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Incontinentia Pigmenti	Eosinophilia, Leukocytosis	OMIM:308300
Meier-Gorlin Syndrome 6	Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Sandal gap, Tr...	OMIM:616835
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Hypoplastic female external genitalia, Abnormal tricuspid valve morphology,...	ORPHA:1507
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Renal tubular acidosis, Short stature, Hematochezia, Joint hypermobility,...	OMIM:619575
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, Bradycardia, Aortic root aneurysm,...	OMIM:614437
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Micrognathia	ORPHA:1514
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Anemia, Spontaneous, recurrent epistaxis, Transient ischemic attack,...	ORPHA:2929
Hypokalemic Periodic Paralysis, Type 2	Myotonia	OMIM:613345
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b...	ORPHA:96334
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618974
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short long bone, Bowing of the long bones, Micromelia, Micrognathia, Neonatal death, Talipes equi...	OMIM:224410
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Abnormal pericardium morphology, Tetralogy of Fallot, Pulmonary hypo...	ORPHA:1335
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Mitral valve prolapse	OMIM:616914
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Hepatomegaly, Methylmalonic acidem...	OMIM:251100
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Tall stature, Ureteral duplication, Prolonged QT interval, Hypop...	ORPHA:373
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex	OMIM:176920
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Atrial septal defect, Cryptorchidism, Patent ductus arteriosus	OMIM:615502
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism	DECIPHER:39
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Palpebral edema, Camptodactyly, Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defec...	ORPHA:397709
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Polyhydramnios, Jaundice, Hypertyrosinemia, Respiratory distress, Hyper...	OMIM:617156
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Weill-Marchesani Syndrome	Limitation of joint mobility, Pulmonic stenosis, Aortic valve stenosis, Short stature, Ventricula...	ORPHA:3449
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Renal tubular acidosis, Patent fo...	OMIM:613457
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A...	OMIM:619381
Chromomycosis	Abnormal foot morphology, Abnormality of the lower limb, Abnormal lung morphology, Osteolysis, At...	ORPHA:182
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Cardiofaciocutaneous Syndrome	Excessive wrinkled skin, Abnormal heart valve morphology, Lymphedema, Hypertrophic cardiomyopathy...	ORPHA:1340
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Polyhydramnios, Recurrent urinary tract infections, Eczematoid dermatitis, Short stature, Renal h...	OMIM:617157
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Calcinosis, Aplasia/hypop...	ORPHA:221016
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Distal Duplication 5Q	Dextrocardia, Hypospadias, Eczematoid dermatitis, Short stature, Cryptorchidism, Craniosynostosis...	ORPHA:96097
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Postaxial polydactyly, Micrognathia,...	ORPHA:435638
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic...	ORPHA:246
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Short stature, Craniosynostosis, Ventricular septal defect, Horseshoe kidney	OMIM:250410
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hajdu-Cheney Syndrome	Osteopenia, Osteolytic defects of the phalanges of the hand, Hypospadias, Pathologic fracture, Po...	OMIM:102500
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie...	ORPHA:71
Osteoglophonic Dysplasia	Broad metacarpals, Rhizomelia, Short metatarsal, Short metacarpal, Broad metatarsal, Bowing of th...	OMIM:166250
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Joubert Syndrome 2	Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insufficiency, Central a...	OMIM:608091
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Limb hypertonia	OMIM:615918
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Apert Syndrome	Chronic otitis media, Limited elbow movement, Lambdoidal craniosynostosis, Craniosynostosis, Dela...	OMIM:101200
Periventricular Nodular Heterotopia 7	Cryptorchidism, Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion...	OMIM:617201
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia...	OMIM:617718
Teebi-Shaltout Syndrome	Camptodactyly, Ureteral stenosis, Aortic valve stenosis, Short stature, Hydronephrosis, Ventricul...	OMIM:272950
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Greenberg Dysplasia	Short long bone, Short ribs, Short metacarpal, Mesomelia, Hypoplastic vertebral bodies, Tetraphoc...	OMIM:215140
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Thrombocytosis, Leukocytosis, Lun...	ORPHA:1304
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Abnor...	ORPHA:83451
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Wrist flexion contracture, Radioulnar synostosis, Atrial septal defect, Peripheral p...	ORPHA:436003
Hypophosphatasia, Infantile	Stillbirth, Metaphyseal cupping, Short ribs, Micromelia, Short lower limbs, Intracranial hemorrha...	OMIM:241500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Kapur-Toriello Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Hy...	ORPHA:2328
Trisomy 18	Abnormality of the upper urinary tract, Cryptorchidism, Short stature, Growth delay, Camptodactyl...	ORPHA:3380
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Episodic Ataxia Type 1	Hand clenching, Myotonia	ORPHA:37612
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Micrognathia, Short dista...	OMIM:180860
Legius Syndrome	Polydactyly, Xanthelasma, Ovarian neoplasm, Clinodactyly of the 5th finger, Short attention span,...	ORPHA:137605
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Recurrent respiratory infections, Epiphyseal stippling, Calcaneal e...	ORPHA:79345
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Cephalohematoma, Increased bone mineral density, Ectopic anterior pituitary gland, Coarse metaphy...	OMIM:620558
Robinow Syndrome	Fused thoracic vertebrae, Pulmonary valve atresia, Tricuspid atresia, External genital hypoplasia...	ORPHA:97360
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Flexion contracture of toe, Tracheomalacia, Camptodactyly, Short stature, Oligohy...	OMIM:300373
Frontoocular Syndrome	Pulmonic stenosis, Atrial septal defect, Coronal craniosynostosis	OMIM:605321
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Abnormalit...	ORPHA:231214
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Polycystic kidney dysplasia, Pancreatic fibrosis, Tricuspid regurgitation, Pulmo...	OMIM:263520
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly	ORPHA:261272
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect, Abnormal external genitalia	ORPHA:3469
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Short stature, Ventricular septal defect, Postnatal growth retardation, Multiple suture craniosyn...	ORPHA:3369
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Methimazole Embryofetopathy	Polyhydramnios, Hypospadias, Hypothyroidism, Abnormality of the thyroid gland, Intrauterine growt...	ORPHA:1923
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Myotonia	ORPHA:391307
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Trigonocephaly With Short Stature And Developmental Delay	Short stature, Ventricular septal defect, Sagittal craniosynostosis, Lambdoidal craniosynostosis	OMIM:314320
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Hepatomegaly, Liver abscess, Recur...	OMIM:306400
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Optic nerve hypoplasia, Osteoporosis o...	ORPHA:95494
Geleophysic Dysplasia 3	Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move...	OMIM:617809
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro...	OMIM:613824
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism, Rod-cone dy...	ORPHA:363741
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre...	OMIM:305400
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Death in childhood, Hypertrophic cardiomyopathy, Cryptorchidism, Cutis marmorata, Patent ductus a...	OMIM:612938
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Teebi Hypertelorism Syndrome 1	Bicornuate uterus, Short stature, Coronal craniosynostosis, Pulmonary hypoplasia, Shawl scrotum, ...	OMIM:145420
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper...	OMIM:615160
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormality of the endocrine system, Premature thelarche, Aortic valve stenosis, Abnormal heart m...	ORPHA:268261
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Isothenuria, Failure to thrive, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubul...	OMIM:611590
Restrictive Dermopathy 1	Stillbirth, Ureteral duplication, Polyhydramnios, Hypospadias, Prominent superficial blood vessel...	OMIM:275210
Achondrogenesis	Micrognathia, Micromelia	ORPHA:932
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Malakoplakia	Abnormal bleeding, Prostate neoplasm, Hematuria, Skin rash, Dysuria, Urinary hesitancy, Urinary u...	ORPHA:556
Thakker-Donnai Syndrome	Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Hydro...	ORPHA:1780
Cyanosis, Transient Neonatal	Jaundice, Hepatomegaly, Cyanosis	OMIM:613977
Presynaptic Congenital Myasthenic Syndromes	Polyhydramnios, Cyanosis, Sudden episodic apnea, Episodic respiratory distress, Apneic episodes p...	ORPHA:98914
Congenital Myasthenic Syndrome	Polyhydramnios, Cyanosis, Sudden episodic apnea, Episodic respiratory distress, Apneic episodes p...	ORPHA:590
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Postnatal growth retardation, Generalized joint hypermobility, Osteopenia, External genital hypop...	ORPHA:251028
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Joubert Syndrome With Oculorenal Defect	Nephropathy, Abnormality of the hypothalamus-pituitary axis, Apnea, Tachypnea, Renal insufficiency	ORPHA:2318
Lethal Congenital Contracture Syndrome 10	Stiff neck, Hydrops fetalis, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overri...	OMIM:617022
Joubert Syndrome With Renal Defect	Nephropathy, Abnormality of the hypothalamus-pituitary axis, Apnea, Abnormal pattern of respirati...	ORPHA:220497
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis, Ethylmalonic aciduria	ORPHA:51188
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections	OMIM:616898
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Recurrent lower respiratory tract infections, Joint contracture of the 5th finger, Ph...	ORPHA:363611
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitatio...	OMIM:143095
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Emphysema, Aortic regurgitation, Inguinal hernia, Overgrowth, Ar...	OMIM:219100
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect...	OMIM:617044
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Hydrops fetalis, Lymphedema, Patent ductus arteriosus, Overriding aorta, Atrial s...	OMIM:601927
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Polycythemia, Papillary cystadenoma of the epididym...	OMIM:193300
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Glucose-Galactose Malabsorption	Hematuria, Dehydration, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency	ORPHA:35710
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Short stature, Ol...	ORPHA:261265
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Inguinal hernia, Tracheomalacia, Recurrent infections, Vesicoureteral ...	ORPHA:261652
Tyshchenko Syndrome	Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Short stature, Intrauterine growth retardation...	OMIM:615102
Pfeiffer Syndrome Type 2	Deviation of the thumb, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux ...	ORPHA:93259
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Dilatation of renal calices, Cryptorchidism, Short stature...	OMIM:614294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Camptodactyly, Cryptorchidism, Short stature, Abnormal heart morphology, Ar...	ORPHA:369891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hypoplasia of penis, Cryptorchidism, Growth delay, Patent ductus arteriosus, Ventric...	ORPHA:77298
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,...	OMIM:618162
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su...	OMIM:614098
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperlysinemia,...	OMIM:615673
Hereditary Sensory And Autonomic Neuropathy Type 4	Hypothermia, Unexplained fevers, Recurrent fever, Recurrent aspiration pneumonia, Orthostatic hyp...	ORPHA:642
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Small scrotum, Aplasi...	OMIM:181450
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Male infertility, Absent outer dynein arms, Atelectasis, Absent frontal s...	OMIM:244400
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Elevated circulating alkaline phosphatase con...	OMIM:300868
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Failure to thrive, Flexion contracture, Hypogonadism, Hip dysplasia, Attention de...	ORPHA:500055
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism	OMIM:618067
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Growth delay, Atrial septal defect, Short stature	ORPHA:52056
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon...	ORPHA:90796
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, R...	OMIM:608940
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Acrofrontofacionasal Dysostosis 2	Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Hyperextensible hand joints, Emphysema, Unilateral renal agenesis, Joint hypermo...	ORPHA:500150
Buerger Disease	Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live...	ORPHA:36258
Doors Syndrome	Polyhydramnios, Respiratory distress, Aspiration pneumonia, Sagittal craniosynostosis, Adrenal hy...	ORPHA:79500
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Hypospadias, Short stature, Chordee, Flexion contracture, Type II diabetes melli...	OMIM:618891
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Genu valgum, Hepatomegaly, Recurrent otitis media, Cholelithiasis, Broad...	OMIM:301066
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal cortical bone morphology, Limitation of joint mobility, Short stature, P...	ORPHA:1486
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Myhre Syndrome	Precocious puberty, Hypertension, Hypogonadism, Abnormal cardiac septum morphology	ORPHA:2588
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism	OMIM:616816
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Prominent fingertip pads, Camptodactyly, Camptodactyly of finger,...	OMIM:300963
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
17Q11 Microdeletion Syndrome	Hypertension, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Re...	ORPHA:97685
Plague	Hematemesis, Sepsis, Hepatomegaly, Acute infectious pneumonia, Arthritis, Meningitis, Hypotension...	ORPHA:707
Reactive Arthritis	Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam...	ORPHA:29207
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea...	OMIM:612651
Cntnap2-Related Developmental And Epileptic Encephalopathy	Pes cavus, Preaxial polydactyly, Hepatomegaly, Precocious puberty, Progressive language deteriora...	ORPHA:163681
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Edema of the dorsum of hands, Respiratory distress, Wrist hypermobility, Flexion contracture, Joi...	ORPHA:544503
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Wolf-Hirschhorn Syndrome	Chronic otitis media, Abnormality of the kidney, Hypospadias, Recurrent respiratory infections, A...	ORPHA:280
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Palpebral edema, Ureteral duplication, Breast aplasia, Recurrent urina...	ORPHA:2036
Apert Syndrome	Hypertension	ORPHA:87
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Dextrocardia, Nasal pol...	OMIM:616037
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Dyspnea, Elevated circulating creatine ...	OMIM:251900
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Optic nerve compression, Abnormal tra...	OMIM:612301
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Respiratory distress, Dyspnea, Joint hypermobility, Recurrent respiratory infections	ORPHA:2759
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Joint hypermobility, Atrial ...	OMIM:612582
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Tetralogy of Fallot, Joint hypermobility, Craniosynostosis, ...	ORPHA:261243
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent respiratory inf...	OMIM:615873
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Polyhydramnios, Tracheomalacia, Respiratory distress,...	OMIM:617180
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Anterior hypopituitarism, Adrenal hypoplasia, Female hypogonadism, A...	OMIM:607932
Temple-Baraitser Syndrome	Pulmonic stenosis, Atrial septal defect	OMIM:611816
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy, C...	OMIM:617403
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Palpebral edema, Respiratory distress, Abnormal capillary physiology, Tongue edema, Angioedema, P...	ORPHA:100057
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Cole Disease	Hyperglycemia	OMIM:615522
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Vasculitis, Recurr...	ORPHA:1572
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Mosaic Trisomy 20	Abnormality of the kidney, Fused cervical vertebrae, Cryptorchidism, Abnormal mitral valve morpho...	ORPHA:1724
Jacobsen Syndrome	Annular pancreas, Hypospadias, Recurrent respiratory infections, Labial hypoplasia, Clitoral hypo...	OMIM:147791
Developmental Malformations-Deafness-Dystonia Syndrome	Femoral retroversion, Hypoplastic scapulae, Micromelia	ORPHA:79107
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Hypospadias, Cryptorchidism, Growth delay, Tetralogy of Fallot, Patent ductus...	OMIM:600460
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension,...	ORPHA:580
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Vesicoureteral reflux, Short stature, Renal hypoplasia, Decreased testicular size, H...	OMIM:309580
Ogden Syndrome	Postnatal growth retardation, Cryptorchidism, Pulmonary artery stenosis, Cardiogenic shock, Arrhy...	ORPHA:276432
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Adrenocortical hypoplasia, Hypoglycemia, Small for gesta...	OMIM:307030
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Intrauterine growth retardation, Joint hypermobility, Hypospadias, Pelvic k...	OMIM:619522
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Hypertension, Cutaneous ...	ORPHA:536
Desbuquois Syndrome	Disproportionate short-limb short stature, Camptodactyly of finger, Severe short stature, Radioul...	ORPHA:1425
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia	ORPHA:1908
Viss Syndrome	Pulmonary artery aneurysm, Coronary sinus enlargement, Mitral valve prolapse, Joint hypermobility...	OMIM:619472
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Hypercalciuria, Patent f...	OMIM:300990
Pallister-Hall Syndrome	Ectopic kidney, Thyroid hypoplasia, Intrauterine growth retardation, Small scrotum, Central adren...	ORPHA:672
Meningioma	Urinary incontinence, Transient global amnesia, Impotence, Upper limb muscle weakness, Cognitive ...	ORPHA:2495
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Galloway-Mowat Syndrome	Nephrotic syndrome, Short stature, Camptodactyly of finger, Proteinuria, Intrauterine growth reta...	ORPHA:2065
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Horseshoe kidney, 2-3 toe syndactyly, Increased body weight, Broad hallux, Pes planus, Micropenis...	OMIM:300860
Leukocyte Adhesion Deficiency	Chronic oral candidiasis, Hemolytic-uremic syndrome, Recurrent tonsillitis, Recurrent staphylococ...	ORPHA:2968
Melnick-Needles Syndrome	Pulmonary arterial hypertension	OMIM:309350
Complement Factor B Deficiency	Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections	OMIM:615561
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Absent nipple, Ventricular septal defect, M...	OMIM:618021
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Postnatal growth retardation, Rickets, Hypercho...	OMIM:309000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Mesomelia, Microretrogn...	OMIM:616229
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephrobla...	OMIM:610832
Criss-Cross Heart	Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi...	ORPHA:1461
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Tarsal synostosis, Renal insufficiency, Hyper...	ORPHA:2750
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Recurrent urinary tract infections, Trunc...	ORPHA:261330
Hypermobile Ehlers-Danlos Syndrome	Osteolysis, Joint hypermobility, Acrocyanosis, Limitation of joint mobility, Apnea, Epistaxis, Ra...	ORPHA:285
Congenital Laryngeal Web	Short stature, Respiratory distress, Abnormal cardiac septum morphology	ORPHA:2374
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Aortic regurgitation, Duplicated collecting system, Myelofibrosis, Hypertrophic c...	OMIM:607721
Cantú Syndrome	Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy, Patent ductus arterio...	ORPHA:1517
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Metaphyseal irregularity, Joint hypermobility, Genu varum, Metaphyse...	OMIM:250420
Neuhauser Syndrome	Primary hypothyroidism, Hypercholesterolemia	OMIM:249310
Grant Syndrome	Short stature, Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
De Barsy Syndrome	Postnatal growth retardation, Osteopenia, Progeroid facial appearance, Excessive wrinkled skin, P...	ORPHA:2962
Acquired Purpura Fulminans	Prolonged prothrombin time, Elevated circulating C-reactive protein concentration, Macular purpur...	ORPHA:49566
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Short hallux	ORPHA:3224
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Micromelia	ORPHA:64755
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath...	ORPHA:217085
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections	OMIM:616873
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Splenomegaly, Cardiomegaly, Intrauterine growth retardation, Hydrops fet...	OMIM:620376
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Palpebral edema, Unilateral renal agenesis, Tricuspid regurgitation, Cr...	ORPHA:261337
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Abnormal circulating calcium-phosphate regulating hormone concen...	ORPHA:2636
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Recu...	OMIM:608233
Hypomandibular Faciocranial Dysostosis	Polyhydramnios, Recurrent respiratory infections, Death in infancy, Patent ductus arteriosus, Cra...	ORPHA:1790
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Dyspnea, Elevated circulating creatine kinase concentration, Palpitations	OMIM:255125
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Cyanosis, Exertional dyspnea	ORPHA:98913
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Patent foramen ovale, Right bundle branch block, Peripheral pulmonary artery sten...	OMIM:617506
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Decreased testicular size, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:93325
Somatomammotropinoma	Hypertension, Impotence, Hypertrophic cardiomyopathy, Dysmenorrhea, Amenorrhea, Diabetes mellitus...	ORPHA:314769
Non-Acquired Panhypopituitarism	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of se...	ORPHA:90695
Bartsocas-Papas Syndrome	Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent t...	ORPHA:1234
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Short stature, Multiple pre...	OMIM:619795
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Cryptorchidism, Short stature, Flexion contracture, Intrauterine growth retardation, Atrial septa...	OMIM:617452
20P12.3 Microdeletion Syndrome	Short stature, Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Ataxia-Telangiectasia	Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Acute...	OMIM:208900
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Hypokalemic Periodic Paralysis, Type 1	Myotonia	OMIM:170400
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,...	OMIM:268310
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath...	ORPHA:217093
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Cryptorchidism, Short stature, Limb joint contracture, I...	ORPHA:505237
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Thin bony cortex	OMIM:265900
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Cryptorchidism, Unilateral renal agenesis, Hypogonadism	OMIM:101800
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Central diabetes insipidus, Abnormal pulmonary interstitial morphology, Xerostomia, D...	ORPHA:227990
Hypophosphatasia, Adult	Rickets, Abnormal foot morphology, Pathologic fracture, Low alkaline phosphatase, Osteomalacia, R...	OMIM:146300
Succinic Acidemia	Respiratory distress	OMIM:600335
Noonan Syndrome 5	Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Arrhythmia, Atrial...	OMIM:611553
Garg-Mishra Progeroid Syndrome	Slender long bone, Microvesicular hepatic steatosis, Increased circulating lactate dehydrogenase ...	OMIM:620601
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Increased nuchal translucency, Intrauterine growth retardation, Joint hypermobili...	OMIM:617635
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a...	OMIM:280000
Congenital Macroglossia	Hypothyroidism, Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Cryptorch...	OMIM:616975
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia, Severe...	OMIM:245590
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Obesity, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Polyhydramnios, Decreased glomerular filtration rate, Hyperchloridu...	OMIM:613090
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Hypoglycemia, Hyperglycemia, Ketonuria	OMIM:615453
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Hypertension, Death in infancy, Oligohydramnios, Hypospadias, Ectoder...	OMIM:308205
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Central diabetes insipidus, Abnormal pulmonary interstitial morphology, Xerostomia, D...	ORPHA:227982
Joubert Syndrome 9	Stage 5 chronic kidney disease, Apnea, Episodic tachypnea	OMIM:612285
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly	ORPHA:73246
Crane-Heise Syndrome	Finger syndactyly, Micrognathia, Short distal phalanx of finger, Toe syndactyly, Hypoplastic scap...	ORPHA:1512
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
Opitz Gbbb Syndrome	Rectourethral fistula, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Growth delay, Congenit...	OMIM:300000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase activity in ...	OMIM:210200
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap...	ORPHA:251014
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Reduced bone mineral density, Short stature, Poor wound healing, Joint hypermobility, Bruising su...	OMIM:619115
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Atelectasis, Death in childhood, Ventricular hypertrophy, Unconjugated hyperbilirub...	OMIM:618278
Roberts Syndrome	Bilateral single transverse palmar creases, Hypoplasia of the radius, Radial deviation of finger,...	ORPHA:3103
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ...	OMIM:618213
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Acromegaly	Anterior hypopituitarism, Abnormality of the endocrine system, Hypertension, Pituitary growth hor...	ORPHA:963
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Recurrent otitis media, Contracture of the distal interphalangeal j...	OMIM:605130
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia, Hypospadias	OMIM:610644
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetab...	OMIM:620076
Costello Syndrome	Polyhydramnios, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Short stature, Mi...	ORPHA:3071
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Congenital Syphilis	Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Acute Liver Failure	Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Abnormal bleeding, ...	ORPHA:90062
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Cryptorchidism, Female pseudohermaphroditism, Arrhythmia, Tetralogy of Fallot, Pa...	ORPHA:1519
Ear-Patella-Short Stature Syndrome	Epispadias, Clitoral hypertrophy, Hypospadias, Craniosynostosis, Hypoplasia of penis, Breast apla...	ORPHA:2554
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Camptodactyly, Broad thumb, Partial duplication of th...	OMIM:616331
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r...	OMIM:610910
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Recurrent aphthous stomatitis, Vasculitis, Ar...	ORPHA:343
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Vaginal dryness, Hypospadias, Patent ductus arteriosus, Supernumerary nipple, Ectodermal dysplasi...	OMIM:106260
Keutel Syndrome	Recurrent otitis media, Emphysema, Premature fusion of phalangeal epiphyses, Epiphyseal stippling...	OMIM:245150
Microphthalmia, Syndromic 3	Postnatal growth retardation, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Short s...	OMIM:206900
Breath-Holding Spells	Cyanosis	OMIM:607578
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Severe intrauterine growth retardation, Ascites, Ur...	OMIM:243800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:203700
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Camptodactyly of fin...	ORPHA:1323
Biotinidase Deficiency	Respiratory distress, Skin rash, Organic aciduria, Eczematoid dermatitis, Hyperammonemia, Apnea, ...	ORPHA:79241
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:2475
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia	OMIM:600092
Myhre Syndrome	Hypertension, Aortic valve stenosis, Pericardial effusion, Obesity, Atrial septal defect, Ventric...	OMIM:139210
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ...	OMIM:166600
Bardet-Biedl Syndrome 12	Polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, C...	OMIM:615989
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc...	OMIM:300636
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Cranioectodermal Dysplasia 3	Nephronophthisis, Rhizomelia, Ectodermal dysplasia, Sagittal craniosynostosis, Short stature, Joi...	OMIM:614099
Cartilage-Hair Hypoplasia	Abnormal metaphysis morphology, Limited elbow extension, Diaphyseal undertubulation, Heart block,...	ORPHA:175
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly	OMIM:119580
Kabuki Syndrome 1	Postnatal growth retardation, Recurrent otitis media, Anoperineal fistula, Premature thelarche, S...	OMIM:147920
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension	OMIM:620025
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Hypertension, Neonatal hyperbilirubinemia	OMIM:300896
Whim Syndrome	Sepsis, Atelectasis, Parotitis, Bronchiectasis, Recurrent pneumonia, Tetralogy of Fallot, Respira...	ORPHA:51636
Thymoma	Myositis, Rheumatoid arthritis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative c...	ORPHA:99867
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Abnormal blood inorganic cation co...	ORPHA:309854
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Patent foramen ovale, Bone cyst, Hypertrophi...	ORPHA:363700
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Patent foramen ovale, Pulmonary artery atresia, Short stature, Pate...	OMIM:620113
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Abnormal female external genitalia morphology, Recurrent respirat...	ORPHA:2637
Weill-Marchesani Syndrome 1	Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis, Short stature, Joint stiff...	OMIM:277600
Unilateral Polymicrogyria	Apnea, Abnormal heart morphology, Epistaxis, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Pulmonary arterial hypertension, Aplasia of the thymus	OMIM:620186
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular acidosis	OMIM:602722
Noonan Syndrome 3	Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, Hypertrophic cardiomyopathy, Cryp...	OMIM:609942
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Cryptorchidism, Joint hypermobility, Atrial septal defect, Ventricular septal defe...	OMIM:301039
Spondylodysplastic Ehlers-Danlos Syndrome	Pulmonic stenosis, Aortic valve stenosis, Generalized osteoporosis, Hypogonadism, Joint hypermobi...	ORPHA:536471
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Camptodactyly, Atrial septal defect, Central hypoventilation,...	OMIM:611961
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Short Stature With Microcephaly And Distinctive Facies	Proximal placement of thumb, Syndactyly, Brachydactyly, Microretrognathia, Short distal phalanx o...	OMIM:615789
Den Hoed-De Boer-Voisin Syndrome	Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Death in adoles...	OMIM:619229
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses...	OMIM:271510
Cerebrocostomandibular Syndrome	Postnatal growth retardation, Polyhydramnios, Ectopic kidney, Calcaneal epiphyseal stippling, Elb...	OMIM:117650
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fib...	OMIM:614924
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Radial club hand	ORPHA:2165
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti...	ORPHA:2908
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Filippi Syndrome	Limitation of joint mobility, Cryptorchidism, Short stature, Growth delay, Severe short stature, ...	ORPHA:3255
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Au-Kline Syndrome	Supernumerary nipple, Hypertension, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Chroni...	OMIM:616580
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Adnp Syndrome	Urinary incontinence, Respiratory distress, Recurrent urinary tract infections, Short stature, Re...	ORPHA:404448
Acrofacial Dysostosis 1, Nager Type	Limited elbow extension, Unilateral renal agenesis, Bicornuate uterus, Short stature, Radioulnar ...	OMIM:154400
Coffin-Siris Syndrome 5	Intrauterine growth retardation, Atrial septal defect, Short stature	OMIM:616938
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Eunuchoid habitus, Mucosal telangiectasiae, Abnormal thymus morphology	ORPHA:2463
Ellis-Van Creveld Syndrome	Epispadias, Neonatal short-limb short stature, Hypospadias, Disproportionate short-limb short sta...	OMIM:225500
Sponastrime Dysplasia	Short long bone, Mesomelia, Metaphyseal irregularity, Flattened humeral epiphyses, Hip dislocatio...	ORPHA:93357
Dravet Syndrome	Limited knee extension, Cyanotic episode	ORPHA:33069
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Abnormal renal morphology, Camptodactyly, Coronal craniosynostosis, ...	OMIM:207410
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration, Hepatic steatosis	ORPHA:209919
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Hypertension associated with ph...	ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Death in childhood, Increased serum bile acid concentration, Hyperbilirubinemia, Bilateral crypto...	OMIM:619685
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal phal...	OMIM:300967
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Intrauterine growth retardation, Oligohydramnios, Respiratory distress	ORPHA:261304
Cog1-Cdg	Hepatosplenomegaly, Pulmonary arterial hypertension	ORPHA:263508
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short ribs, Micromelia, Camptodact...	ORPHA:2021
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Atri...	OMIM:619769
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Ramos-Arroyo Syndrome	Respiratory distress, Keratitis, Severe short stature, Patent ductus arteriosus, Atrial septal de...	ORPHA:1051
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Mullegama-Klein-Martinez Syndrome	Short stature, Apical muscular ventricular septal defect, Hypoplastic left heart	OMIM:301022
Blau Syndrome	Pericarditis, Hypertension	OMIM:186580
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Short stature, Recurrent pneumonia, Recurrent aspiration pneumonia, Pat...	OMIM:300472
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Pulmonic stenosis, Growth delay, Short stature, Joint hypermobility,...	OMIM:613706
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Polyhydramnios, Hypospadias, Lower-limb joint contracture, Osteoporosis, Cryptor...	ORPHA:459070
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Broad thumb, Abnormal distal phalanx morpholog...	ORPHA:783
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Atrial septal defect, Ventricular septal defect, Respiratory distress	OMIM:610536
Alkaptonuria	Limitation of knee mobility, Decreased glomerular filtration rate, Arthritis, Nephrolithiasis, Mi...	OMIM:203500
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplication of renal pelvis, Tr...	OMIM:312870
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Emphysema, Aortic regurgitation, Prematurely aged appearance, Periphera...	OMIM:123700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh...	ORPHA:1001
Restrictive Dermopathy	Osteopenia, Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias,...	ORPHA:1662
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Palpebral edema, Polyhyd...	ORPHA:50810
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Intraalveolar phospholipid accu...	ORPHA:747
Chime Syndrome	Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great arteries, Erythema...	ORPHA:3474
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Hyperphosphatemia, Hypercalcemia, Nephrolithiasis	OMIM:617994
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Spondylo-Ocular Syndrome	Osteoporosis, Short stature, Disproportionate short-trunk short stature, Joint hypermobility, Ven...	ORPHA:85194
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen...	ORPHA:35078
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Steatorrhea	OMIM:607748
Hypoadrenocorticism, Familial	Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Apnea, Cyanosis, Adrenal insufficiency	OMIM:240200
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Oculoectodermal Syndrome	Bladder exstrophy, Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Growth del...	OMIM:600268
Autosomal Dominant Hypocalcemia	Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Beck-Fahrner Syndrome	Cardiomegaly, Joint hypermobility, Ventricular septal defect	OMIM:618798
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ...	ORPHA:989
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Camptodactyly, Hand clenching, Micrognathia, Adducted thumb, Overlapping toe...	OMIM:617822
White-Sutton Syndrome	Duplicated collecting system, Patent foramen ovale, Short stature, Patent ductus arteriosus, Intr...	OMIM:616364
Anaplastic Thyroid Carcinoma	Respiratory distress, Anaplastic thyroid carcinoma, Dyspnea, Neoplasm of the lung, Nodular goiter...	ORPHA:142
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrops fetalis, Polyhydramnios, Polycystic kidney dysplasia, Pulmonary hypoplasia, Atrial septal...	OMIM:616546
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, R...	OMIM:614701
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis, Polyhydramnios, Hypospadias, Abnorm...	OMIM:236680
Multiple Mitochondrial Dysfunctions Syndrome 7	Cyanosis, Partial atrioventricular canal defect, Hypernatremia, Apnea, Hyperglycinemia	OMIM:620423
Dysostosis, Stanescu Type	Short stature, Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Osteopetrosis, Increased bone mineral density	OMIM:617306
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Polyhydramnios, Patent foramen ovale, Camptodact...	OMIM:256520
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Hepatomegaly, Dehydration, Cryptorchidism, Precocious puberty, Pate...	ORPHA:96191
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Sinus bradycardia, Ineffective esophageal peristalsis	OMIM:619482
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Pathologic fracture, Abnormal cortical bone morphology	ORPHA:166277
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:300559
Ovarian Fibroma	Ovarian fibroma, Pleural effusion, Abnormality of the ovary, Ascites, Peritonitis, Gonadal calcif...	ORPHA:314473
Orotic Aciduria	Oroticaciduria, Hematuria, Impaired T cell function, Orotic acid crystalluria, Atrial septal defe...	OMIM:258900
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Inguinal hernia, Recurrent infections, Abnormal dental enamel morphology, Oligodacty...	ORPHA:2273
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Hypospadias	OMIM:612528
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br...	ORPHA:503
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh...	ORPHA:1786
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Tapered finger, Camptodactyly	ORPHA:435938
Diphallia	Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc...	ORPHA:227
Lujan-Fryns Syndrome	Joint hypermobility, Camptodactyly of finger, Atrial septal defect, Macroorchidism	ORPHA:776
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Nephrolithiasis, Decreased level of plasminoge...	ORPHA:722
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Meier-Gorlin Syndrome 4	Breast hypoplasia, Emphysema, Slender long bone, Genu recurvatum, Failure to thrive, Micrognathia...	OMIM:613804
Acetazolamide-Responsive Myotonia	Myotonia	ORPHA:99736
Cryptococcosis	Prostatitis, Respiratory distress, Pleural effusion, Dyspnea, Cerebral edema, Peritonitis, Osteol...	ORPHA:1546
Insulin-Like Growth Factor I, Resistance To	Increased circulating insulin-like growth factor 1 concentration, Patent foramen ovale, Short sta...	OMIM:270450
Weill-Marchesani Syndrome 2	Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Proportionate sh...	OMIM:608328
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Short middle phala...	ORPHA:1005
Choanal Atresia	Tracheomalacia, Respiratory distress, Craniosynostosis, Recurrent respiratory infections, Cyanosi...	ORPHA:137914
Combined Oxidative Phosphorylation Deficiency 27	Failure to thrive, Microvesicular hepatic steatosis, Mental deterioration	OMIM:616672
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Polyhydramnios, Oligohydramnios, Aortic regurgitation	OMIM:615476
Atresia Of Urethra	Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladd...	ORPHA:105
Laryngotracheal Angioma	Apnea, Cyanosis, Intercostal retractions, Respiratory distress	ORPHA:137935
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Xerostomia, Nephrolithiasis, Renal insuffi...	OMIM:617671
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Diaphyseal scle...	OMIM:259710
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Flared metaphysis, Metaphyseal cupping, Short ribs, Short metacarpal, Bowing of the l...	ORPHA:50945
Schisis Association	Micromelia	ORPHA:63862
Vater/Vacterl Association	Postnatal growth retardation, Transposition of the great arteries, Ectopic kidney, Hypospadias, P...	OMIM:192350
Gracile Syndrome	Cirrhosis, Cholestasis, Elevated hepatic iron concentration, Hepatic steatosis, Renal Fanconi syn...	ORPHA:53693
Kniest Dysplasia	Recurrent otitis media, Rhizomelia, Delayed epiphyseal ossification, Tracheomalacia, Respiratory ...	OMIM:156550
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Ventricular septal defect, Aortic regurgitation	OMIM:609460
Kbg Syndrome	Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly	ORPHA:2332
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu...	ORPHA:508542
Cerebrocostomandibular Syndrome	Tracheomalacia, Death in infancy, Short stature, Intrauterine growth retardation, Ventricular sep...	ORPHA:1393
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy	OMIM:275630
Phaver Syndrome	Pulmonary artery atresia, Joint stiffness, Camptodactyly of finger, Radioulnar synostosis, Intrau...	ORPHA:2876
Char Syndrome	Supernumerary nipple, Ventricular septal defect, Symphalangism of the 5th finger, Patent ductus a...	ORPHA:46627
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Polyhydramnios, Respiratory distress, Shoulder flexion contracture, Elbow flexion c...	OMIM:620369
Hamamy Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Micrognathia, Down-sloping should...	OMIM:611174
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Microphthalmia, Syndromic 2	Hypothyroidism, Hypospadias, Dextrocardia, Contracture of the proximal interphalangeal joint of t...	OMIM:300166
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:620166
Maternal Phenylketonuria	Abnormal renal morphology, Abnormal heart morphology, Tetralogy of Fallot, Bladder exstrophy, Dou...	ORPHA:2209
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
Immunodeficiency 9	Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia	OMIM:612782
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Inguinal hernia, Recurrent infections, Pelvic kidney, 2-3 toe syndactyly, P...	OMIM:618653
Cri-Du-Chat Syndrome	Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Metata...	OMIM:123450
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Joint contracture of the 5th finger, Recurrent infections, 2-3 toe syndacty...	OMIM:619934
Cooper-Jabs Syndrome	Reduced bone mineral density, Short stature, Camptodactyly of finger, Joint hypermobility, Ventri...	ORPHA:1488
Pitt-Hopkins Syndrome	Postnatal growth retardation, Supernumerary nipple, Esophagitis, Growth delay, Acrocyanosis, Abno...	ORPHA:2896
Hypoglossia With Situs Inversus	Situs inversus totalis, Respiratory distress	OMIM:612776
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Polyhydramnios, Multicystic kidney dysplasia, Knee f...	OMIM:606170
Campomelia, Cumming Type	Clubbing of toes, Bowing of the long bones, Brachydactyly, Micromelia	ORPHA:1318
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Splenomeg...	OMIM:613471
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:617061
Pontocerebellar Hypoplasia, Type 8	Joint stiffness, Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita	OMIM:614961
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Dyskeratosis Congenita	Abnormality of neutrophils, Neoplasm of the pancreas, Anemia, Cirrhosis, Hepatomegaly, Abnormal t...	ORPHA:1775
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Thin bony cortex, Osteopenia	ORPHA:85184
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect, Ectopic kidney, Tracheomalacia	ORPHA:268249
Woods Syndrome	Limited elbow extension, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Short stature, Hepatosplenomegaly, Dis...	OMIM:259730
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Growth delay, Hypothyroidism, Hypomagnesemia, Ventricular septal defect	OMIM:619908
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Respiratory distress, Chylothorax, Death in infancy, Joint contracture, Cereb...	OMIM:620278
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hip dysplasia, Achalasia, ...	OMIM:615356
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short 4th metacarpal, Micrognathia, Small hand	ORPHA:1787
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Lacticaciduria, Increased serum p...	ORPHA:3008
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Atrial septal defect	OMIM:619356
Laryngomalacia	Respiratory distress	OMIM:150280
Humeroradial Synostosis	Humeroradial synostosis, Renal insufficiency	OMIM:236400
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subdural hemorrhage, Retinal hemorrhage, Chronic kidney disease	ORPHA:25
Mitchell-Riley Syndrome	Diabetes mellitus, Hyperglycemia	OMIM:615710
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Pulmonary hypoplasia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Alternating Hemiplegia Of Childhood	Respiratory distress, Cardiomyopathy, Dehydration, Cardiac conduction abnormality, Apnea, Arrhyth...	ORPHA:2131
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Achalasia, Acrocyanosis	ORPHA:2400
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Skraban-Deardorff Syndrome	Ventricular septal defect, Recurrent otitis media	OMIM:617616
Cranio-Osteoarthropathy	Abnormal cortical bone morphology, Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthri...	ORPHA:1525
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Aortic aneurysm, Aortic dissection, Epistaxis, Hematochezia, Mitral valve prolapse, Pulmonary art...	OMIM:175050
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Renal Fanconi syndro...	OMIM:268315
Multiple Pterygium-Malignant Hyperthermia Syndrome	Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod...	ORPHA:2215
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se...	OMIM:619657
Sweet Syndrome	Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i...	ORPHA:3243
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Recurrent respirato...	OMIM:211530
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Biotinidase Deficiency	Hyperammonemia, Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Oculodentodigital Dysplasia	Vertebral hyperostosis, Joint contracture of the 5th finger, Neurogenic bladder, Arrhythmia, Atri...	OMIM:164200
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis, Respiratory distress	OMIM:619793
Floating-Harbor Syndrome	Mesocardia, Recurrent otitis media, Hypospadias, Ivory epiphyses of the distal phalanges of the h...	OMIM:136140
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Polyhydramnios, Camptodactyly, Short stature, Intrauterine growth retardation, Joint hypermobilit...	OMIM:617360
Triosephosphate Isomerase Deficiency	Congestive heart failure, Jaundice, Cholelithiasis, Respiratory distress, Death in adolescence, D...	OMIM:615512
Dend Syndrome	Hyperglycemia	ORPHA:79134
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Knee flexion contracture	OMIM:603387
Al-Raqad Syndrome	Joint hypermobility, Atrial septal defect	OMIM:616459
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car...	OMIM:259600
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ...	OMIM:619708
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Renal dysplasia, Rena...	OMIM:617107
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion	OMIM:214300
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Micrognathia, Synda...	OMIM:263750
Myopathy, X-Linked, With Excessive Autophagy	Myotonia	OMIM:310440
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ...	ORPHA:2754
Rhombencephalosynapsis	Polydactyly, Finger syndactyly, Short phalanx of finger, Microretrognathia, Complete duplication ...	ORPHA:59315
Mowat-Wilson Syndrome	Abnormality of the kidney, Recurrent otitis media, Hypospadias, Bifid scrotum, Cryptorchidism, Pu...	OMIM:235730
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Congenital hip dislocation, Aplasia/Hypoplasia of the distal pha...	ORPHA:1647
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorch...	ORPHA:2044
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec...	OMIM:610655
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ...	ORPHA:93598
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Melena, Freckled genitalia, Subcutaneous lipoma, ...	ORPHA:79076
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Recurrent otitis media, Increased serum bile acid concentration, Cholelithiasis, Po...	OMIM:618268
Hydrolethalus	Micrognathia, Postaxial hand polydactyly, Micromelia	ORPHA:2189
Diamond-Blackfan Anemia	Hypospadias, Renal agenesis, Short stature, Growth delay, Abnormal heart morphology, Nonimmune hy...	ORPHA:124
Al Kaissi Syndrome	Postnatal growth retardation, Malar rash, Short stature, Intrauterine growth retardation, Atrial ...	OMIM:617694
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Loeys-Dietz Syndrome 5	Flexion contracture of toe, Patent foramen ovale, Congenital finger flexion contractures, Eosinop...	OMIM:615582
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Hypocalcemia, Recurrent bronchitis, Eczematoid dermatitis, Recurrent pneumonia, Hy...	OMIM:620330
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Increased hepatic echogen...	OMIM:147060
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Arthrogryposis multiplex congenita, Cryptorchidism, Cardiomegaly, Joint hypermobili...	OMIM:618143
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis, Dyspnea	ORPHA:2004
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Disproportiona...	OMIM:224300
Pelger-Huet Anomaly	Ventricular septal defect, Mild short stature, Recurrent otitis media, Eczematoid dermatitis	OMIM:169400
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia	ORPHA:209335
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Stillbirth, Ankle flexion contracture, Clitoral hypertrophy, Enlarg...	OMIM:268300
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Fusariosis	Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno...	ORPHA:228119
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost...	OMIM:618476
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmi...	OMIM:153400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Ventricular septal defect, Camptodactyly, B...	ORPHA:500095
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Multicystic Dysplastic Kidney	Hypertension	ORPHA:1851
Gm1-Gangliosidosis, Type Ii	Hypoplastic vertebral bodies, Limb undergrowth, Coxa valga	OMIM:230600
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Bartsocas-Papas Syndrome 1	Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phalanx of finger, Mi...	OMIM:263650
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Neonatal death, Limb undergrowth, Talipes equinovarus	OMIM:619124
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Polyhydramnios, Thyroid agenesis, Recurrent respiratory infections...	ORPHA:3047
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Premature graying of hair, Fractures of the long bones...	OMIM:112250
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Atrial septal defect	OMIM:113301
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular...	OMIM:613550
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Pallister-Killian Syndrome	Aplasia of the uterus, Aortic valve stenosis, Small scrotum, Edema of the dorsum of feet, Apneic ...	OMIM:601803
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Clitoral hypertrophy, Dyspnea, Respiratory distress	ORPHA:2707
Pyomyositis	Testicular teratoma, Myositis, Recurrent cutaneous abscess formation, Renal insufficiency, Sudden...	ORPHA:764
Alzahrani-Kuwahara Syndrome	Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Eczematoid dermatitis, Short statu...	OMIM:619268
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect, Cryptorchidism	ORPHA:404440
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Short stature, Patent ductus arterio...	OMIM:614609
Spondyloocular Syndrome	Osteopenia, Femur fracture, Lymphedema, Dysplastic aortic valve, Unilateral cryptorchidism, Short...	OMIM:605822
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Short phalanx of finger, Micrognathia, Limb undergrowth	OMIM:225410
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger, Lateral ventricle dilatation	OMIM:618367
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Cohen Syndrome	Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th fi...	ORPHA:193
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia, Pulmonary artery atresia, Impaired T cell function, Cryptorchid...	OMIM:192430
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Elevated circulating creatine kinase concentration, Pulmonic...	OMIM:253800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Multiple prenatal fractures, Generalized edema, Flexion contrac...	OMIM:271225
Enamel-Renal Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating os...	ORPHA:1031
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Joint hypermobility, Atrial septal defect, Mitral valve prolapse	OMIM:300986
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Aspartylglucosaminuria	Chronic otitis media, Hepatomegaly, Abnormal cortical bone morphology, Vascular skin abnormality,...	ORPHA:93
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Postaxial foot polydactyly	ORPHA:139471
Halperin-Birk Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Death in childhood, Fl...	OMIM:618651
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Sclerosing cholangitis, Inflammation of the large intestine, Interface hepatitis, Ulcerative coli...	ORPHA:562639
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Ventricular septal defect, Decreased fertility, Keratoconjunctivitis sicca	OMIM:234050
Kabuki Syndrome	Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Abnormal cardiac septum morpho...	ORPHA:2322
Lymphatic Malformation 6	Facial edema, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, ...	OMIM:616843
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Carpenter Syndrome 2	Broad thumb, Umbilical hernia, Craniosynostosis, Transposition of the great arteries, Camptodacty...	OMIM:614976
Myotonia Permanens	Myotonia	ORPHA:99735
Neurofibromatosis, Type I	Hypertension	OMIM:162200
Neurocardiofaciodigital Syndrome	Double inlet left ventricle, Vesicoureteral reflux, Short stature, Tetralogy of Fallot, Patent du...	OMIM:619869
Hamel Cerebro-Palato-Cardiac Syndrome	Short stature, Atrial septal defect, Death in infancy	ORPHA:93946
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Atrial septal defect	OMIM:619239
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Short stature, Growth delay, Pulmonary artery stenosis, Intrauterine gro...	OMIM:301030
Down Syndrome	Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of...	OMIM:190685
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Sandal gap	ORPHA:178303
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis cranialis interna, Myel...	OMIM:231095
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Flexion contracture, Joint hypermobility, Atrial septal ...	OMIM:309520
Peters Plus Syndrome	Anterior hypopituitarism, Abnormal pulmonary vein morphology, Bicuspid pulmonary valve, Congenita...	ORPHA:709
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,...	OMIM:269500
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation	ORPHA:91359
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Cryptorchidism, Dilated cardiomyopathy, Ventricular septal defect, Mitral r...	ORPHA:261250
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short stature, Atrial septal defect, Ventricular septal defect, Acne	ORPHA:261190
Opitz-Kaveggia Syndrome	Radial deviation of finger, Single transverse palmar crease, Prominent fingertip pads, Split hand...	OMIM:305450
Diets-Jongmans Syndrome	Polyhydramnios, Hypospadias, Cryptorchidism, Short stature, Joint hypermobility, Ventricular sept...	OMIM:618846
Early Infantile Epileptic Encephalopathy	Ureterocele, Precocious puberty, Renal dysplasia, Ventricular septal defect, Micropenis	ORPHA:1934
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s...	ORPHA:261183
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent pneumonia,...	OMIM:601495
Renal Tubular Acidosis Iii	Rickets, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Osteomalacia	OMIM:267200
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent ductu...	OMIM:620570
Immunodeficiency 67	Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Septic ar...	OMIM:607676
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth...	OMIM:618223
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Weismann-Netter Syndrome	Severe short stature, Abnormality of the thyroid gland, Abnormal cortical bone morphology	ORPHA:3344
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis, E...	ORPHA:100078
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Respiratory distress, Elevated circulating creatine kinase concen...	OMIM:164310
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Camurati-Engelmann Disease	Delayed puberty, Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of lon...	OMIM:131300
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage	ORPHA:247257
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Hypokalemia, Respiratory distre...	OMIM:618426
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis, Exertional dyspnea	OMIM:250800
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ...	OMIM:265000
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Alazami Syndrome	Postnatal growth retardation, Atrial septal defect, Cutis marmorata	ORPHA:319671
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Yunis-Varon Syndrome	Pachygyria, Cardiomyopathy, Pulmonary arterial hypertension, Heart murmur	OMIM:216340
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Heart And Brain Malformation Syndrome	Growth delay, Camptodactyly of finger, Polyhydramnios, Ventricular septal defect	OMIM:616920
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature	OMIM:609654
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Radial deviation of finger, Proximal placement of thumb, Arachno...	OMIM:613406
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Pelvic kidney, Nasal flaring	ORPHA:466943
Stolerman Neurodevelopmental Syndrome	Broad palm, Clinodactyly of the 5th finger, Syndactyly	OMIM:618505
Singleton-Merten Syndrome 1	Osteopenia, Congestive heart failure, Osteolytic defects of the phalanges of the hand, Cutaneous ...	OMIM:182250
Neurofibromatosis Type 1	Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Seizure, Hypertension, Pr...	ORPHA:636
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Intrauterine growth retardation, Atrial septal defect	ORPHA:521308
Intermediate Uveitis	Vasculitis, Optic neuritis, Cystoid macular edema, Anterior uveitis, Psoriasiform dermatitis, Mac...	ORPHA:279914
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Infantile Krabbe Disease	Respiratory distress, Abnormal heart rate variability	ORPHA:206436
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Respiratory distress, Increased bone mineral density, Short stat...	OMIM:119600
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease	OMIM:613819
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormal sternal ossification, Severe postnatal growth retardation, Aplasia of the u...	OMIM:194190
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad...	OMIM:180700
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Myotonia, Bundle branch block	ORPHA:589821
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Camptodactyly, Cryptorchidism, Pulmonic stenosis, Ventricular sept...	OMIM:619123
Hereditary Angioedema Type 1	Edema of the dorsum of hands, Respiratory distress, Dyspnea, Tongue edema, Hypotension, Urticaria...	ORPHA:100050
Neu-Laxova Syndrome 2	Rocker bottom foot, Toe syndactyly, Micrognathia, Finger syndactyly	OMIM:616038
Fraser Syndrome 3	Stillbirth, Micrognathia, Cutaneous syndactyly, Short toe	OMIM:617667
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Ventricular septal defect, Postnatal growth retardation, Osteopenia	OMIM:212066
Lateral Meningocele Syndrome	Joint hypermobility, Ventricular septal defect, Craniofacial hyperostosis, Cryptorchidism	ORPHA:2789
Hyperkalemic Periodic Paralysis	Congestive heart failure, Myotonia, Arrhythmia	ORPHA:682
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Proboscis Lateralis	External genital hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Patent ductus arterios...	ORPHA:141099
Hypoplastic Left Heart Syndrome	Maternal diabetes, Mitral stenosis, Patent ductus arteriosus, Atrial septal defect, Mitral atresi...	ORPHA:2248
Stüve-Wiedemann Syndrome	Osteopenia, Thickened cortex of long bones, Abnormal cortical bone morphology, Respiratory distre...	ORPHA:3206
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Umb...	OMIM:304120
Fetal Alcohol Syndrome	Intrauterine growth retardation, Joint stiffness, Atrial septal defect, Short stature	ORPHA:1915
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Dextrotransposition of the great arteries, Ventricular septal defect, Recurrent ot...	OMIM:619995
Pycnodysostosis	Short stature, Osteolytic defects of the distal phalanges of the hand, Increased bone mineral den...	OMIM:265800
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Short stature, Ventricular septal defect, Patent ductus arteriosus	ORPHA:52055
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Rectovaginal fistula, Delayed ossification of carp...	OMIM:600373
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Syndactyly	OMIM:616430
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna...	OMIM:148050
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand	ORPHA:1300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2476
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Camptodactyly, Micrognathia, Syndactyly, Absent palmar crease	OMIM:614230
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Polyhydramnios, Aortic regurgitation, Recurrent respiratory infections,...	OMIM:618371
Warsaw Breakage Syndrome	Postnatal growth retardation, Cutis marmorata, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:613398
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Tarsal synostosis, Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, ...	OMIM:178110
Aase-Smith Syndrome I	Ventricular septal defect, Flexion contracture, Death in infancy	OMIM:147800
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Micrognathia, Telangiectasia...	ORPHA:1556
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca, Tubulointerstitial nephritis	OMIM:270150
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Growth delay, Ventricular septal defe...	OMIM:613884
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Flared metaphysis, Hyperextensibility of the finger joints, Proximal ...	OMIM:151050
16P13.11 Microdeletion Syndrome	Cryptorchidism, Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular septal ...	ORPHA:261236
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Finger syndactyly, Micrognathia, Palmoplantar hyperke...	ORPHA:3253
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Recurrent bacterial infections	OMIM:619693
Slc39A8-Cdg	Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes	ORPHA:468699
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
21Q22.11Q22.12 Microdeletion Syndrome	Postnatal growth retardation, Recurrent otitis media, Hypoplastic nipples, Camptodactyly, Short s...	ORPHA:261323
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Hypocholesterolemia, Short stature, Atrial septal defect, Ventricular septa...	OMIM:244450
Hyperlysinemia	Hyperlysinemia, Pulmonary artery hypoplasia, Hyperammonemia, Hypoornithinemia, Failure to thrive,...	ORPHA:2203
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of...	ORPHA:568
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad...	OMIM:227330
Neuroendocrine Tumor Of Stomach	Chronic noninfectious lymphadenopathy, Hepatomegaly, Iron deficiency anemia, Abnormal pulmonary v...	ORPHA:100075
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Intrauterine growth retardation, Abnormal mitral valve morphology, Atrial septal defect, Short st...	ORPHA:1292
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Arthrogryposis multiplex congenita, Fetal pyelectasis, Cryptorchidism	OMIM:619512
Leukocyte Adhesion Deficiency, Type I	Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Ost...	OMIM:116920
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Recurrent bacterial skin infections, Left ventricular hypertrophy	ORPHA:294023
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Ventricular septal defect, Abnormal tricuspid valve morphology, Hydrops fetalis	ORPHA:3405
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Micrognathia, Absent ...	ORPHA:284160
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Polyhydramnios, Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Acrocallosal Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tapered finger, Du...	OMIM:200990
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Respiratory distress	OMIM:618201
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Syndactyly, Congenital hip dislocation	OMIM:104350
Pyknoachondrogenesis	Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplastic pubic bo...	ORPHA:3003
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Decreased circulating antibody level, Vaginal ...	ORPHA:96129
Camptodactyly Syndrome, Guadalajara Type 3	Broad femoral neck, Thickened cortex of long bones, Small hand, Short foot, Distal shortening of ...	ORPHA:488434
Omodysplasia 1	Limited elbow extension, Limited knee flexion/extension, Limited elbow flexion/extension, Rhizome...	OMIM:258315
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdominal wall musc...	OMIM:267000
Triploidy	Finger syndactyly, Micrognathia	ORPHA:3376
Constricting Bands, Congenital	Hand polydactyly, Syndactyly, Talipes equinovarus	OMIM:217100
Right Pulmonary Artery, Anomalous Origin Of, Familial	Coarctation of aorta, Patent foramen ovale, Ventricular septal defect, Anomalous origin of right ...	OMIM:610338
Autosomal Dominant Robinow Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short palm, Camptodacty...	ORPHA:3107
Trisomy 20P	Abnormal hip bone morphology, Finger syndactyly, Camptodactyly of finger, Micrognathia, Brachydac...	ORPHA:261318
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia	OMIM:615491
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hashimoto thyro...	ORPHA:436252
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Thin bony cortex	OMIM:619638
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Larsen Syndrome	Multiple carpal ossification centers, Tracheomalacia, Cryptorchidism, Short stature, Intrauterine...	OMIM:150250
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Tetral...	OMIM:164210
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Short stature, Respiratory distress	OMIM:606164
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Periorbital edema...	ORPHA:141083
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger	ORPHA:2311
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Short stature, Cryptorchidism, Recurrent f...	OMIM:309583
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy...	ORPHA:69085
Autosomal Recessive Faciodigitogenital Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Down-...	ORPHA:1974
Lethal Kniest-Like Dysplasia	Polyhydramnios, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Edema, Atrial s...	ORPHA:2347
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Abnormal heart valve morphology, Hypertension, Transient ischemic attack, Internal h...	ORPHA:286
Orofaciodigital Syndrome Type 14	Epispadias, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus	ORPHA:434179
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly	OMIM:129400
Alzheimer Disease, Familial, 1	Dementia	OMIM:104300
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Saethre-Chotzen Syndrome	Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pelvic girdle bone morphology, ...	OMIM:101400
Cerebellofaciodental Syndrome	Short stature, Ventricular septal defect, Mitral valve prolapse, Cryptorchidism	OMIM:616202
3Q29 Microduplication Syndrome	Camptodactyly of toe, Craniosynostosis, Ventricular septal defect	ORPHA:251038
Autosomal Dominant Coarctation Of Aorta	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart	ORPHA:1455
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia inv...	ORPHA:1521
Chand Syndrome	Atelectasis, Hydroureter, Short fifth metatarsal, Imperforate hymen, Hypohidrosis	ORPHA:1401
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius	ORPHA:887
Leukocyte Adhesion Deficiency Type Ii	Broad palm, Overlapping toe, Limb undergrowth	ORPHA:99843
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax	OMIM:262850
Mckusick-Kaufman Syndrome	Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation	OMIM:236700
Chilton-Okur-Chung Neurodevelopmental Syndrome	Chordee, Epistaxis, Patent ductus arteriosus	OMIM:619841
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Panniculitis, Chylothorax, Lymphedema, Pleural effusion, Erysipelas, Severe short stature, Edema,...	ORPHA:2526
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Crumpled long bones, Femoral retroversion, Micromelia, Coxa vara, Protrusio acetabuli...	OMIM:610682
Eec Syndrome	Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr...	ORPHA:1896
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Micromelia	OMIM:200995
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Broad hallux phalanx, Finger syndactyly, Preaxial hand polydactyly	ORPHA:2211
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Camptodactyly, Growth delay, Contracture of the proximal interphalangeal joint of the 3rd finger,...	OMIM:301044
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Polyhydramnios, Tricuspid stenosis, Patent ductus arteriosus...	OMIM:164280
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of...	ORPHA:2907
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges o...	ORPHA:2990
Pachyonychia Congenita	Angular cheilitis, Respiratory distress	ORPHA:2309
Craniotubular Dysplasia, Ikegawa Type	Short stature, Thin bony cortex, Ventricular septal defect, Sclerosis of skull base	OMIM:619727
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint hypermobility, Atrial septal defect, Progressive flexion contractures, Central apnea, Hyper...	ORPHA:522077
Phace Association	Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Patent ductus arteriosus	OMIM:606519
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplast...	OMIM:305100
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Myositis, Thyroidi...	ORPHA:79078
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex	OMIM:617952
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,...	ORPHA:1587
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Clinodactyly of the 5th finger	ORPHA:96123
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Diamond-Blackfan Anemia 4	Growth delay, Atrial septal defect, Short stature	OMIM:612527
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Rodrigues Blindness	Short stature, Ectodermal dysplasia, Nasal flaring	OMIM:268320
Meckel Syndrome, Type 1	Radial deviation of finger, Postaxial hand polydactyly, Bowing of the long bones, Foot polydactyl...	OMIM:249000
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Flexion contracture	OMIM:619306
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Aplasia of the eccrine sweat glands, Recurrent bacterial infect...	OMIM:300291
Cornelia De Lange Syndrome 6	Intrauterine growth retardation, Atrioventricular canal defect, Ventricular septal defect, Pulmon...	OMIM:620568
Chromosome 16P13.3 Duplication Syndrome	Tracheobronchomalacia, Camptodactyly, Cervical C5/C6 vertebrae fusion, Cryptorchidism, Tetralogy ...	OMIM:613458
46,Xy Sex Reversal 6	Chordee	OMIM:613762
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight, Abnormality of the plantar skin of foot	ORPHA:64745
Limb Body Wall Complex	Abnormality of the kidney, Ectopia cordis, Abnormal heart morphology, Atrial septal defect, Ventr...	ORPHA:2369
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Syndactyly	OMIM:223370
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Rhizomelia, Delayed epiphyseal ossification, Arrhythmia, Disproportionate short stat...	OMIM:250220
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy	ORPHA:100079
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Growth delay, Atrial septal defect, Short stature	ORPHA:93947
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Patent Urachus	Recurrent urinary tract infections, Congenital posterior urethral valve, Patent urachus, Cystocel...	ORPHA:431341
C Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Dislocated radial hea...	ORPHA:1308
Faciocardiomelic Syndrome	Osteopenia, Common atrium, Thin bony cortex	OMIM:612731
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis, Knee flexion contracture	OMIM:617239
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Osteoporosis, Short stature, Joint hypermobility, Ventricular se...	OMIM:259770
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Palmoplantar keratoderma, Micrognathia, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:1071
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short stature, Uterine prolapse, Cutis marmorata, Acrocy...	OMIM:303600
Fraser Syndrome	Finger syndactyly, Limb undergrowth, Wide pubic symphysis, Toe syndactyly, Cutaneous syndactyly	ORPHA:2052
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Chordee	OMIM:616728
Idiopathic Camptocormia	Myotonia	ORPHA:1320
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Oligohydramnios, Ventricular septal hypertrophy, Ventricular sep...	OMIM:608670
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Tracheomalacia, Lower-limb joint contracture, Ventricular septal defect, ...	ORPHA:513456
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Purpura, Respiratory distress, Petechiae, Hypopnea	ORPHA:2330
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Tetralogy of Fallot, Cryp...	OMIM:618748
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Hartsfield Syndrome	Ectrodactyly, Syndactyly	OMIM:615465
Coffin-Siris Syndrome 12	Hip subluxation, Slender finger, Broad thumb, Radioulnar synostosis, Micrognathia, Short thumb, H...	OMIM:619325
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
46,Xy Ovotesticular Difference Of Sex Development	Chordee	ORPHA:325345
Tetraamelia Syndrome 1	Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis	OMIM:273395
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Chordee	ORPHA:477993
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Stroke, Ischemic		OMIM:601367

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Spleen - MPATH pathological entity term lymphoid hyperplasia	Nos3^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological process term hyperplasia	Nos3^em1(IMPC)Mbp	HOM	Early adult
Lymph node - MPATH pathological process term hyperplasia	Nos3^em1(IMPC)Mbp	HOM	Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Nos3^em1(IMPC)Mbp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nos3.

No publications found that use IMPC mice or data for Nos3.

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MGI Allele	Allele Type	Produced
Nos3^{tm282188(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nos3^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nos3 MGI:97362

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Histopathology

Human diseases caused by Nos3 mutations

Histopathology

IMPC related publications

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