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Gene: Hif1an MGI:2442345

Gene Summary

Name:

hypoxia-inducible factor 1, alpha subunit inhibitor

Synonyms:

FIH, A830014H24Rik, 2310046M24Rik

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
small liver	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.44×10^-06
abnormal eye morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
prolonged QRS complex duration	Hif1an^em1(IMPC)Mbp	HOM	Early adult	6.08×10^-05
abnormal skin morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Hif1an^em1(IMPC)Mbp	HOM	Early adult	5.55×10^-06
preweaning lethality, incomplete penetrance	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Hif1an^em1(IMPC)Mbp	HOM	Early adult	2.11×10^-05
enlarged spleen	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Hif1an^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal coat/hair pigmentation	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.06×10^-11
abnormal bone structure	Hif1an^em1(IMPC)Mbp	HOM	Early adult	2.67×10^-06
increased startle reflex	Hif1an^em1(IMPC)Mbp	HOM	Early adult	1.72×10^-10

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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

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Human diseases caused by Hif1an 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 Hif1an (0 diseases)
Human diseases predicted to be associated with Hif1an (1237 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hif1an by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Ketotic hypoglycemia, Reactive hypoglycemia, Agitation, Hyperinsulinemi...	ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea...	ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Agitation, Diffuse pancreatic isl...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa...	ORPHA:276580
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepatosplenomegaly, Hyperechogenic ki...	OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Hepatic steatosis, Decreased HDL cholesterol conc...	OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly, Dementia	ORPHA:2274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ...	ORPHA:90794
N-Acetylglutamate Synthase Deficiency	Anorexia, Hyperglutamatemia, Respiratory distress, Hyperalaninemia, Hyperammonemia, Failure to th...	OMIM:237310
Acute Liver Failure	Agitation, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:90062
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hypocalcemia...	OMIM:612526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh...	ORPHA:276608
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Hyperkalemia, Abnormal T-wave, Lactic acidosis, Prolonged QT interval, ...	ORPHA:466650
Griscelli Syndrome, Type 2	Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ...	OMIM:607624
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Citrullinemia Type I	Elevated plasma citrulline, Torticollis, Hyperammonemia, Failure to thrive, Ataxia, Respiratory a...	ORPHA:247525
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
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ...	ORPHA:263455
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute rhabdomyolysis, Metabolic acidosis, Abnormality of masseter muscle, Necrotizi...	ORPHA:423
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoketotic hypog...	ORPHA:26793
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hyperc...	ORPHA:528
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Metabolic acid...	OMIM:615160
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Griscelli Syndrome, Type 1	Recurrent tonsillitis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmenta...	OMIM:214450
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Elevated circulating hepatic transami...	OMIM:613327
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten...	OMIM:615962
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d...	ORPHA:45452
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lact...	OMIM:306000
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Metabolic acidosis, Lactic acidosis, Hyperalaninemia, Hypoglycemia, Increased circulati...	OMIM:615751
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Difficulty walking, Respiratory distress, Distal amyotrophy, Rimm...	OMIM:164310
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Hypertension, Impaired glucose tolerance, Obesity, P...	OMIM:219090
Gitelman Syndrome	Delayed puberty, Polydipsia, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, P...	ORPHA:358
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
East Syndrome	Polydipsia, Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level...	ORPHA:199343
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ...	OMIM:222100
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Hypertrophic cardiomyopathy, Asplenia, Pu...	OMIM:615415
Familial Hyperaldosteronism Type Iii	Polydipsia, Prolonged QT interval, Hypokalemia, Abnormal circulating renin, Hypertension, Glucoco...	ORPHA:251274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Sitosterolemia 2	Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Hypokalemia, Abnormal circulating renin, Hypertension, Athetosis, Pulmonary arterial ...	ORPHA:369929
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Hypot...	ORPHA:85445
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N...	OMIM:617303
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Erlenmeyer flask deformity of the femurs, Splenomegaly, Hypocholesterolemia, Hypers...	OMIM:610539
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent...	OMIM:616829
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Hepatomegaly, Metabolic acidosis, Hyperuricemia, Hypertension, Hypoglycemia,...	ORPHA:134
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hepatic steatosis, H...	OMIM:151660
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Insulinoma	Hyperinsulinemia, Neuroendocrine neoplasm, Palpitations, Neoplasm of the adrenal gland, Increased...	ORPHA:97279
Propionic Acidemia	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Metabolic acidosis, Limb hypertonia, Lactic ac...	OMIM:606054
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, Short foot, Precocio...	OMIM:616222
Mitochondrial Complex I Deficiency, Nuclear Type 2	Difficulty walking, Falls, Increased serum pyruvate, Hypertrophic cardiomyopathy, Increased circu...	OMIM:618222
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Pulmonary arterial hypertension, Increased circulating lactate concentration, Incr...	OMIM:613845
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Polyphagia, Increased...	OMIM:620085
Gitelman Syndrome	Delayed puberty, Polydipsia, Hypokalemic alkalosis, Prolonged QT interval, Hypokalemia, Hypotensi...	OMIM:263800
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Scorpion Envenomation	Prominent U wave, Mixed respiratory and metabolic acidosis, Hypertension, Premature ventricular c...	ORPHA:466677
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sudden episodic apnea, Fas...	ORPHA:159
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate...	ORPHA:247585
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyper...	ORPHA:363400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Short foot, Precocious puberty, Obesity, Hypercholesterolem...	ORPHA:254531
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat...	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Metabolic acidosis, Bradycardia, Hyperalaninemia, Elevate...	OMIM:619048
Absence Of The Pulmonary Artery	Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric...	ORPHA:980
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Motor stereotypy, Hy...	OMIM:610883
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Distal lower limb muscle weakness, Steppage gait, Distal amyotrophy, Ataxia, Hypoalbuminemia, Hyp...	ORPHA:94124
Huntington Disease	Bradykinesia, Agitation, Decreased body mass index, Difficulty walking, Gait imbalance, Oral-phar...	ORPHA:399
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Ataxia, Respiratory alkalosis, ...	OMIM:237300
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Maternal diabetes, Abnormality of b...	ORPHA:860
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Met...	ORPHA:348
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Decreased circulat...	OMIM:201475
Mandibuloacral Dysplasia	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o...	ORPHA:2457
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas...	ORPHA:79240
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Premature thelarche, Gait ataxia, Hypera...	OMIM:616878
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure...	OMIM:278000
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensit...	ORPHA:231580
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:369
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Respiratory distress, Hypotension, Hypoxem...	ORPHA:36238
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Central Diabetes Insipidus	Polydipsia, Anorexia, Diabetes insipidus, Hyponatremia, Failure to thrive, Weight loss, Lethargy	ORPHA:178029
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia	OMIM:620195
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Hypotension, Obesity, Attention deficit hyperactivity disorder, Glu...	ORPHA:369873
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Elevated circulating carcinoembryonic antigen concent...	ORPHA:264675
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Cystinosis	Delayed puberty, Polydipsia, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Hy...	ORPHA:213
Familial Hyperaldosteronism Type Ii	Hypokalemia, Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal ...	ORPHA:404
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou...	OMIM:604367
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,...	OMIM:255100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Steppage gait, Distal amyotrophy, Ataxia, Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Mody	Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-...	ORPHA:552
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Short toe, Brachydactyly, ...	ORPHA:633
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:212138
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Bradycardia, Abnormal circulating thyroglobulin conc...	ORPHA:90674
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Short pal...	OMIM:182290
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Progressive psychomotor deterioration, Splenomegaly, Moto...	ORPHA:796
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Metabo...	ORPHA:20
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Rickets of the lower limbs, Hepatocellular carcinoma, Ac...	ORPHA:882
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Lactic acidosis, Hy...	OMIM:606407
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Pyruvate Carboxylase Deficiency	Hyperammonemia, Ataxia, Anorexia, Tip-toe gait, Elevated plasma citrulline, Metabolic acidosis, I...	ORPHA:3008
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Hypokalemia, Decreased circulating renin level, Neoplasm of the adrenal gland, H...	ORPHA:231625
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Cog4-Cdg	Cirrhosis, Elevated circulating hepatic transaminase concentration, Limb hypertonia, Hepatospleno...	ORPHA:263501
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Dystonia	ORPHA:139406
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Elev...	ORPHA:525731
Apparent Mineralocorticoid Excess	Polydipsia, Hypokalemia, Decreased circulating renin level, Hypertension, Left ventricular hypert...	ORPHA:320
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive	OMIM:615863
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles...	OMIM:616834
Citrullinemia, Classic	Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxicatio...	OMIM:215700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, A...	OMIM:266510
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Spastic gait, Hepatomegaly, Elevated circulating hepatic transaminase c...	ORPHA:415
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Hypopigmentation of hair, Pa...	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 54	Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Increased circulating lactate co...	OMIM:619737
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Elevated circ...	OMIM:613205
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Reduced bone mineral density, Cholestasis, Cognitive impairment, Splenome...	ORPHA:172
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hypothyroidism, Obesity, Abnorm...	ORPHA:77296
Histiocytoid Cardiomyopathy	Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial flutter, Lactic ac...	ORPHA:137675
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Temple Syndrome	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Polyphagia...	ORPHA:254516
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul...	OMIM:218030
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Weakness of facial musculature, Talipes equinovarus, Hypoplasia of the...	ORPHA:2020
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Acute Lung Injury	Elevated circulating C-reactive protein concentration, Respiratory distress, Acute pancreatitis, ...	ORPHA:178320
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest...	OMIM:603813
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Tyrosinemia, Type I	Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra...	ORPHA:90065
Bardet-Biedl Syndrome 9	Polydipsia, Polydactyly, Postaxial hand polydactyly, Polyphagia, Postaxial polydactyly, Obesity, ...	OMIM:615986
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Truncal obesity, Short foot, Precocious puberty, Obesity, C...	ORPHA:96184
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Hypoplastic fingernail, Abnormal liver lobulat...	OMIM:608022
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lactic acidosis, Hyperalaninemia, Gait disturbance, Increased circulating lactate concentration, ...	OMIM:615838
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Hypoxemia, Acidosis, Arrhythmia, Syncope, Palpitations, Cyanosis	ORPHA:464453
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Pulmonary venous hypertension, Elevated pulmonary artery ...	ORPHA:1329
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Abnormal blood gas level, Metabolic acidosis, Vasculitis, Hypotension, Hypoxemia, D...	ORPHA:70578
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Hypertension, Athetosis, Pulmonary arterial hyper...	OMIM:615474
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Pulmonary insufficiency,...	OMIM:602088
Whipple Disease	Polydipsia, Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Myocarditis, Myositis, Cachexia,...	ORPHA:3452
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Combined Oxidative Phosphorylation Deficiency 24	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Increased circulati...	OMIM:616239
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physi...	ORPHA:168569
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98855
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Left ventricular hype...	OMIM:601493
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary ci...	OMIM:620454
Argininosuccinic Aciduria	Hepatomegaly, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intox...	OMIM:207900
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Metabolic acidosis, Hyperamylasemia, Hyperalaninemia, Elevated circulatin...	OMIM:619386
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Antenatal ...	OMIM:608836
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Episodic ataxia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Epi...	OMIM:311250
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Reduced bone mineral density, Abn...	ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc...	OMIM:608594
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Hereditary Central Diabetes Insipidus	Polydipsia, Lethargy, Weight loss, Diabetes insipidus	ORPHA:30925
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port...	OMIM:605814
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lactic acidosis, Respiratory distress, Hypertrophic cardiomyopathy, Ataxia, Tachypn...	OMIM:614299
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria...	OMIM:105200
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:542323
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Diabetes insipidus, Calf muscle pseudohypertrophy, Decreased body weight, Elevated ...	ORPHA:96180
High Altitude Pulmonary Edema	Anorexia, Hypoxemia, Tachycardia, Tachypnea, Cyanosis	ORPHA:330012
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous...	OMIM:248370
Immunodeficiency 53	Recurrent urinary tract infections, Neutrophilia, Impaired lymphocyte transformation with phytohe...	OMIM:617585
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Lactic acidosis, Hy...	OMIM:617872
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima...	ORPHA:280365
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Myopathy	ORPHA:366
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Muscular dystrophy, Reduced left ...	ORPHA:1344
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia, Polyphagia	OMIM:618406
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Hyperechogenic pancreas, Proximal placement of thumb, Skeletal muscle fibrosis, ...	ORPHA:456312
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Dilated cardiomyopath...	ORPHA:401923
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lactic acidosis, Decreased...	ORPHA:2394
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus...	ORPHA:79299
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Nail-biting, Tachycardia, Hyperactivity, 2...	ORPHA:485405
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98853
Schaaf-Yang Syndrome	Rocker bottom foot, Inability to walk, Tapered finger, Polyphagia, Camptodactyly, Impulsivity, Sh...	OMIM:615547
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of t...	OMIM:269920
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elev...	OMIM:269700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Inguinal hernia, Hyperhomocystinemia, Pulmonary arterial hypertension, Fa...	OMIM:614857
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Infant Acute Respiratory Distress Syndrome	Bradycardia, Cardiac arrest, Hypotension, Nasal flaring, Hypoxemia, Tachycardia, Tachypnea, Cyanosis	ORPHA:70587
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated...	OMIM:614921
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Clinodactyly of the 5th finger, Gait disturbance, Precocio...	ORPHA:819
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Truncal ataxia, Distal amyotrophy, Elevated circulating creatine kinase concentratio...	OMIM:208920
Glut1 Deficiency Syndrome 2	Irritability, Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98863
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Depression, Confusion, T...	ORPHA:108
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Graves Disease	Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le...	OMIM:275000
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis, Failure to thrive	OMIM:179010
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak...	ORPHA:90064
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemic alkalosis, Hypokalemia, Increased serum prostagland...	OMIM:241150
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, 2-3 toe syndactyly, Elev...	OMIM:618156
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Holocarboxylase Synthetase Deficiency	Anorexia, Respiratory distress, Hyperammonemia, Ataxia, Weight loss, Tachypnea, Lethargy	ORPHA:79242
Peripartum Cardiomyopathy	Sinus tachycardia, Hypertension, Heart murmur, Left ventricular hypertrophy, Myocarditis, Elevate...	ORPHA:563
Snakebite Envenomation	Tachycardia, Neuromuscular dysphagia, Cerebral ischemia, Hypotension, Muscle fiber necrosis, Hypo...	ORPHA:449285
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Familial Hyperaldosteronism Type I	Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulat...	ORPHA:403
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he...	OMIM:212065
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Metabolic acidosis, Apnea, Tachycardia, Hypoglycemia, Lethargy	OMIM:229700
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, H...	ORPHA:786
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie...	ORPHA:71
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg...	OMIM:607616
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Hyperparathyroidism, Neonatal Severe	Polydipsia, Calcinosis, Hepatomegaly, Elevated circulating parathyroid hormone level, Primary hyp...	OMIM:239200
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Fatigable weakness of skeletal muscles, Right bundle branc...	ORPHA:206559
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231632
Rabson-Mendenhall Syndrome	Polydipsia, Polydactyly, Increased circulating androgen concentration, Increased serum testostero...	ORPHA:769
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Bone marrow hypocellularity, Leukopenia, Pulmonary arterial hypertension, Abnorm...	ORPHA:505248
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce...	OMIM:606762
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c...	ORPHA:14
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Obesity, Hypogonadism	OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Naxos Disease	Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Prolonged ...	OMIM:601214
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Atypical Rett Syndrome	Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Sudden episodic apnea, Ster...	ORPHA:3095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Hypert...	ORPHA:79259
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Gait ataxia, Dysphagia, Recurrent...	OMIM:606721
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Cyanosis, Prolonged QT interval, Metabolic acidosis, Lact...	ORPHA:31826
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyperli...	OMIM:232400
Bardet-Biedl Syndrome 22	Polydactyly, Large for gestational age, Polyphagia, Obesity, Hypogonadism, Postaxial foot polydac...	OMIM:617119
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Craniosynostosis, Hepatic fibrosi...	OMIM:200995
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab...	ORPHA:2204
Myotonic Dystrophy 2	Right bundle branch block, Insulin insensitivity, Elevated circulating creatine kinase concentrat...	OMIM:602668
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Radial deviation ...	OMIM:176270
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Scarring alopecia of scalp, Cholestasis, Sparse scalp hair, Portal hypert...	ORPHA:59303
Sepsis In Premature Infants	Decreased liver function, Jaundice, Hepatomegaly, Metabolic acidosis, Elevated circulating C-reac...	ORPHA:90051
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hypertension, Hyp...	OMIM:615812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait...	OMIM:618541
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoketotic hypog...	ORPHA:71212
Solitary Fibrous Tumor	Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia...	ORPHA:2126
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hypokalemia, Dysdiadochokinesis, Hypertension, Increased circulating renin level, Ele...	OMIM:612780
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Loss of ambulation, Dysphagia, Motor stereotypy, Tachycardia, Episodic tachypnea	ORPHA:79264
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy, Increased circulating lactate con...	OMIM:618810
Ataxia-Telangiectasia	Premature graying of hair, Elevated circulating hepatic transaminase concentration, Hypopigmentat...	ORPHA:100
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Metabolic acidosis, Decreased circulating carnitine concentration, Bradycardia, Car...	OMIM:618235
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Progressive psychomotor deterioration, Hypertension, Episodic hemolytic anemia, ...	ORPHA:251004
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly, Dystonia	ORPHA:77260
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Alopecia	ORPHA:100025
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Hyperpigmentation of the skin, Cardiomyopathy,...	OMIM:602390
Bronchopulmonary Dysplasia	Small for gestational age, Respiratory distress, Right ventricular failure, Right ventricular hyp...	ORPHA:70589
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left ventricular ejecti...	OMIM:115197
Cardiogenic Shock	Hypoxemia, Elevated circulating creatinine concentration, Metabolic acidosis, Low-output congesti...	ORPHA:97292
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, ...	OMIM:252920
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diab...	ORPHA:79084
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, S...	ORPHA:381
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h...	OMIM:610193
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism, Hypercapnia, Abnormality of the diaphragm	ORPHA:505395
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Polydipsia, Elevated circulating hepatic transaminase concentration, Hyperlipide...	ORPHA:293987
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tachypnea, Cyanosis, Respiratory distress	OMIM:263000
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Elevated...	ORPHA:398124
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Atrial Septal Defect, Ostium Primum Type	Third heart sound, Left ventricular hypertrophy, Right-to-left shunt, Pulmonary arterial hyperten...	ORPHA:99106
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Avian Influenza	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Elevated circu...	ORPHA:454836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Dystonia, Thrombocytopenia, Splenomegaly, Cho...	ORPHA:79312
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Polyphagia, Short foot, Obesity, Hypogonadotropic hypogonad...	ORPHA:177910
Congenital Myopathy 13	Bilateral talipes equinovarus, Hypoxemia, Increased intramyocellular lipid droplets, Flexion cont...	OMIM:255995
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Lactic acidosis, Fasting hypoglycemia, Elevated circulating alanine aminotransferas...	OMIM:261680
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, Ataxia	ORPHA:411515
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic ca...	ORPHA:848
Cholera	Lactic acidosis, Hypokalemia, Tachycardia, Hypocalcemia, Hypoglycemia, Hypotension, Hypovolemic s...	ORPHA:173
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Lactic acidosis, Metabolic acidosis, Aortic regurgitation, Reduced left ventricular ejection frac...	OMIM:616501
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Hereditary Coproporphyria	Proximal muscle weakness in upper limbs, Hepatocellular carcinoma, Hyponatremia, Abnormal circula...	ORPHA:79273
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
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee...	ORPHA:33543
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Hepatomegaly, Lym...	OMIM:214500
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Hepa...	ORPHA:79086
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Patchy alopecia, Splenomegaly, Vitili...	OMIM:615387
Joubert Syndrome 10	Decreased body weight, Polyphagia, Frequent temper tantrums, Postaxial hand polydactyly, Obesity,...	OMIM:300804
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Hypocalcemia, Pulmonic stenosis, Failure to thrive, Heart murmur...	ORPHA:3426
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro...	OMIM:611705
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Cryptogenic Organizing Pneumonia	Anorexia, Elevated circulating C-reactive protein concentration, Respiratory distress, Hypoxemia,...	ORPHA:1302
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Proximal placement of thumb, Abnormal ad...	ORPHA:79324
Tetanus	Bradycardia, Respiratory distress, Hypertension, Elevated circulating creatine kinase concentrati...	ORPHA:3299
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Metabolic acidosis, Hypokalemia, Decreased circulating renin level, Hypertension, Adr...	OMIM:613677
Free Sialic Acid Storage Disease	Hepatomegaly, Reduced bone mineral density, Athetosis, Ascites, Nephrotic syndrome, Abnormality o...	ORPHA:834
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Central Hypoventilation Syndrome, Congenital, 1	Hypoxemia, Hypercapnia, Apnea, Decreased heart rate variability	OMIM:209880
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Leukocytosis, ...	ORPHA:37748
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Broad-based gait, Polyphagia, Obesity, Tapered finger	ORPHA:171829
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi...	OMIM:615631
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Elevated circulating he...	ORPHA:275761
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Lactic acidosis, Gait imbalance, Elevated serum anion gap, Elevated ci...	OMIM:618120
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Decreased circ...	OMIM:618114
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Gait ataxia, Ataxia, Dy...	ORPHA:254892
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level, Hypertension, Metabolic alkalosis, Decreased circ...	OMIM:618126
Bacterial Toxic-Shock Syndrome	Fasciitis, Myocarditis, Elevated circulating creatinine concentration, Metabolic acidosis, Respir...	ORPHA:36234
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Panhypophysitis	Polydipsia, Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95513
Secondary Short Bowel Syndrome	Steatorrhea, Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to ...	ORPHA:95427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat...	ORPHA:231222
Liddle Syndrome 1	Hypokalemic alkalosis, Hypokalemia, Decreased circulating renin level, Hypertension, Decreased ci...	OMIM:177200
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormali...	ORPHA:2584
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Palpitations, Rhabdomyolysis, Hyperthyroidism, Weight loss, Tachycardia, Goiter	OMIM:188580
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Bilateral talipes equinovarus, Obesity, Self-mutilation, Aggressive behavior	OMIM:616521
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Elevated circ...	ORPHA:368
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Spinal muscular atrophy, Limb muscle weakness, Camptodactyly of finger, Failur...	OMIM:604320
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries	ORPHA:90301
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Primary Pulmonary Hypoplasia	Abnormal hemidiaphragm morphology, Patellar hypoplasia, Hypoxemia, Failure to thrive, Apnea, Tach...	ORPHA:2257
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Cystinosis, Nephropathic	Delayed puberty, Polydipsia, Primary hypothyroidism, Splenomegaly, Hypophosphatemia, Dysphagia, E...	OMIM:219800
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Hypoxemia, Failure to thrive, Tachypnea, Cyanosis	ORPHA:91359
Mucolipidosis Ii Alpha/Beta	Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Brittl...	OMIM:252500
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athe...	OMIM:257200
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Lactic acidosis, Clubbing, Cholestasis, Elevated circulating alanine ami...	OMIM:615486
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir...	ORPHA:64743
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Progressive cerebellar ataxia, Increased...	OMIM:277460
Graft Versus Host Disease	Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentration, Acute h...	ORPHA:39812
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Genera...	ORPHA:33445
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Obesity, Lipodystrophy, Hypoalbuminemia, Inc...	ORPHA:86816
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome...	OMIM:612840
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Hypothyroidism...	OMIM:601005
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Facial diplegia, Prolonged QRS complex, ...	ORPHA:273
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Dysphagia, Elevated c...	ORPHA:64753
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris	OMIM:614025
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Progressive neurologic de...	OMIM:231000
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Variegate Porphyria	Tachycardia	OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Gait disturbance, Ataxia, Choreoathetosi...	ORPHA:765
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce...	ORPHA:35878
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Abnormal bone ossification, Torticollis, Periportal ...	ORPHA:79328
Sialidosis Type 2	Hepatomegaly, Tremor, Ascites, Osteoporosis, Splenomegaly, Nephropathy	ORPHA:87876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Porphyria Variegata	Scarring, Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase conc...	ORPHA:79473
Necrotizing Enterocolitis	Metabolic acidosis, Abnormal glucose homeostasis, Bradycardia, Hypotension, Increased circulating...	ORPHA:391673
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Recurrent Respiratory Papillomatosis	Respiratory distress, Choking episodes, Failure to thrive, Dysphagia, Syncope, Tachypnea	ORPHA:60032
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Dystonia, Th...	OMIM:610333
Renal Glucosuria	Polydipsia, Glycosuria, Polyphagia	OMIM:233100
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Gaisböck Syndrome	Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten...	ORPHA:90041
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, T...	OMIM:613489
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Meconium Aspiration Syndrome	Pulmonary insufficiency, Maternal diabetes, Respiratory distress, Pulmonary arterial hypertension...	ORPHA:70588
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Raynaud phenomenon, Pulmonary venous ...	ORPHA:79128
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Tenorio Syndrome	Hypoinsulinemia, Gait disturbance, Apnea, Raynaud phenomenon, Syncope, Hypoglycemia, Macroglossia	OMIM:616260
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Hypokalemic alkalosis, Hypertension, Adrenogenital syndrome	OMIM:202110
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Hyperbilirubinemia, Hypoxemia, Hepatosplenomegaly, Tachycard...	ORPHA:71275
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Umbilical hernia, Pr...	ORPHA:95717
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
2Q23.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Hyperactivity, Polyphagia, Short palm, Ataxia, Motor ...	ORPHA:228402
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Abnormal circulating tryptophan concentration, Hypote...	ORPHA:79155
Serotonin Syndrome	Agitation, Lactic acidosis, Hypertension, Hypotension, Rhabdomyolysis, Restlessness, Tachycardia,...	ORPHA:43116
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Left bundle branch...	OMIM:610131
Pyruvate Carboxylase Deficiency	Lactic acidosis, Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Athetosis, Increased ci...	OMIM:266150
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dense calvaria, Hirsutism, Motor deterioration, Synophrys, Asymmetric septal hypert...	OMIM:252930
Severe Acute Respiratory Syndrome	Hypoxemia, Diabetes mellitus, Respiratory distress	ORPHA:140896
Ataxia-Oculomotor Apraxia 4	Obesity, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperchol...	OMIM:616267
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Hypopigmentation of hair, Hypertrophic cardio...	ORPHA:70472
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Short foot, Cent...	ORPHA:398079
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:79126
Muscle Filaminopathy	Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Left ventricul...	ORPHA:171445
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	ORPHA:470
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Hyperpigmentation of the skin,...	ORPHA:158029
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hepatomegaly, Metabolic acidosis, Hyperhomocystinemia, Bradycardia, Cardi...	OMIM:277400
Combined Oxidative Phosphorylation Deficiency 10	Lactic acidosis, Metabolic acidosis, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, I...	OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Ataxia, Motor stereotypy, Metatarsus valgus, Hypercholesterolemia, Tapered finger...	ORPHA:2479
Joubert Syndrome 7	Genu valgum, Postaxial hand polydactyly, Postaxial polydactyly, Ataxia, Tachypnea, Central apnea,...	OMIM:611560
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertension, Hyperammonemia, Ataxia, Dysphagia, Left ventricular hypertrophy, Persistent lactic ...	OMIM:220111
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Wolfram Syndrome	Delayed puberty, Polydipsia, Gastrointestinal hemorrhage, Male hypogonadism, Diabetes insipidus, ...	ORPHA:3463
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Pulmonary hemorrhage, Elevated circulating C-reactive protein concentration	OMIM:616414
Senior-Boichis Syndrome	Polydipsia, Cirrhosis, Agitation, Elevated circulating hepatic transaminase concentration, Hypert...	ORPHA:84081
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Pul...	ORPHA:567548
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero...	OMIM:300972
Intellectual Developmental Disorder, Autosomal Dominant 72	Facial hypotonia, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder	OMIM:620439
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, ...	OMIM:228000
Andersen-Tawil Syndrome	Torsade de pointes, Clinodactyly of the 5th toe, Polymorphic ventricular tachycardia, Prolonged Q...	ORPHA:37553
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Congenital Fibrinogen Deficiency	Clubbing of fingers, Internal hemorrhage, Splenic rupture, Right ventricular hypertrophy, Left ve...	ORPHA:335
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Gaucher Disease Type 1	Ascites, Leukopenia, Splenomegaly, Osteolysis, Pancytopenia, Depression, Splenic infarction, Port...	ORPHA:77259
Placental Insufficiency	Insulin resistance, Hypoxemia, Small for gestational age	ORPHA:439167
Nephrotic Syndrome, Type 11	Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Dilated cardiomyopathy, Hy...	OMIM:616730
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ...	OMIM:181350
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Mixed respiratory and metabolic acidosis, Hypotension, Elevated circulating creatin...	OMIM:145600
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypothalamic luteinizing hor...	ORPHA:398069
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Nail dysplasia, Premature graying of hair, Nail dystrophy, Pancytopenia, Osteopo...	OMIM:613989
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Agitation, Hypertension, Tapered finger, Flexion contracture, Tachycardia, Interphalangeal thumb ...	OMIM:613870
Neuroleptic Malignant Syndrome	Hyperkalemia, Agitation, Elevated circulating hepatic transaminase concentration, Metabolic acido...	ORPHA:94093
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Hepatomegaly, Anemia, Dystrophic toena...	ORPHA:2930
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Upper limb muscle ...	ORPHA:263297
Bickerstaff Brainstem Encephalitis	Facial palsy, Limb muscle weakness, Ataxia, Facial paralysis, Weakness of facial musculature, Hyp...	ORPHA:79138
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Diabetes melli...	ORPHA:49827
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Parathyroid Carcinoma	Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le...	ORPHA:143
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Generalized hirsutism, Splenomegaly	ORPHA:93476
Bardet-Biedl Syndrome 17	Polydipsia, Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatars...	OMIM:615994
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Biotinidase Deficiency	Hepatomegaly, Metabolic ketoacidosis, Hyperammonemia, Apnea, Ataxia, Splenomegaly, Tachypnea, Let...	OMIM:253260
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Neuhauser Syndrome	Genu valgum, Primary hypothyroidism, Arachnodactyly, Ataxia, Dysphagia, Hypercholesterolemia	OMIM:249310
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract infections, Leukopenia, Splen...	OMIM:620210
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Systolic heart murmur, Hypoxemia, Right ventricular hypert...	ORPHA:555874
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Steator...	ORPHA:186
Adams-Oliver Syndrome 6	Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly, Hypoplastic toenail...	OMIM:616589
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath...	OMIM:256550
Eisenmenger Syndrome	Clubbing, Left-to-right shunt, Hypoxemia, Heart murmur, Right-to-left shunt, Elevated jugular ven...	ORPHA:97214
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, ...	OMIM:252900
Relapsing Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactiv...	ORPHA:91547
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia	OMIM:314390
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Metabolic acidosis, Fasting hypoglycemia, Increased hepatic g...	ORPHA:2088
Methionine Malabsorption Syndrome	Tachypnea, Positive ferric chloride test	OMIM:250900
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly, Hyperpigmentation ...	ORPHA:75563
Sézary Syndrome	Irregular hyperpigmentation, Nail dystrophy, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Respiratory distress, ...	OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Elevated circulatin...	OMIM:602347
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Elevated pulmonary artery pressure...	ORPHA:57777
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Thick hair, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholest...	OMIM:607626
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide distal femoral metaphysis, Metaphyseal cupping, Hypertension, Pulmonary arterial hypertensio...	OMIM:613320
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Bradycardia, Hyperammonemia, Pericarditi...	ORPHA:99826
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Man1B1-Cdg	Clinodactyly of the 5th finger, Broad-based gait, 2-3 toe syndactyly, Polyphagia, Truncal obesity	ORPHA:397941
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Infantile Nephropathic Cystinosis	Polydipsia, Abnormality of thyroid physiology, Hypokalemia, Glycosuria, Failure to thrive, Hypoph...	ORPHA:411629
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Abnormal circulating...	ORPHA:95716
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Atrial arrhythmi...	OMIM:300257
Juvenile Nephropathic Cystinosis	Polydipsia, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypouricemia, Hypovolemia, Hypothyroid...	ORPHA:411634
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly	ORPHA:721
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transamina...	ORPHA:93111
Erdheim-Chester Disease	Polydipsia, Xanthelasma, Congestive heart failure, Abnormal metaphysis morphology, Diabetes insip...	ORPHA:35687
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory dist...	ORPHA:2140
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cardiomyopathy...	ORPHA:26791
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Hypovolemia, Nephrogenic diabetes insipidus, Hypernatremia, Failure to thrive	ORPHA:223
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc...	OMIM:612714
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Failure to thrive, Diabetes insipidus	OMIM:304800
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Ataxia, Arrhythmia, Ventricular preexcitation, Myopathy	ORPHA:104
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Partial duplication of thumb phalanx, Dilated cardiomyopathy, Hype...	OMIM:618348
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Cebalid Syndrome	Congenital diaphragmatic hernia, Polyphagia	OMIM:618774
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Failure to thrive, Nephrogenic diabetes insipidus	OMIM:125800
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Ogden Syndrome	Enlarged kidney, Premature ventricular contraction, Cardiomegaly, Fine hair, Irritability, Jaundi...	OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Lactic acidosis, Elevated circulating hepatic transaminase concentration, Elevated lactate:pyruva...	OMIM:615453
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Abnormality of the kidney, Hypopigmentatio...	ORPHA:895
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty...	OMIM:246200
Classic Phenylketonuria	Hypopigmentation of hair, Memory impairment, Depression, Mental deterioration, Tremor, Hypopigmen...	ORPHA:79254
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Plantar flexion contracture, Slender finger, Cutaneous syndactyly of toes, Umbilical...	ORPHA:2872
Fabry Disease	Reduced bone mineral density, Hypertension, Cognitive impairment, Left ventricular hypertrophy, D...	ORPHA:324
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hyper...	OMIM:168000
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of ...	ORPHA:3157
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Frontotemporal Dementia	Inappropriate laughter, Disinhibition, Polyphagia	OMIM:600274
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Clubbing of fingers, Stippled calcification in carpal bones, Increased circulating ...	ORPHA:60025
Mercury Poisoning	Anorexia, Hypokalemia, Respiratory distress, Hypertension, Hypotension, Tachycardia	ORPHA:330021
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Congenital-Onset Steinert Myotonic Dystrophy	Short attention span, Enuresis, First degree atrioventricular block, Bundle branch block, Bradyph...	ORPHA:589821
Familial Dysautonomia	Orthostatic hypotension, Abnormal peritoneum morphology, Hypertension, Gait disturbance, Hyponatr...	ORPHA:1764
Syndromic Diarrhea	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Aortic regurgitation, Hypopigmentation of hair, Br...	ORPHA:84064
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Denys-Drash Syndrome	Enlarged kidney, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neonatal d...	OMIM:194080
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, L...	OMIM:241200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Short metacarpal, Short 4th metacarpal, Decreased response to growth hormo...	ORPHA:79444
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Hypertension, Pulmonary carcinoid tu...	ORPHA:363618
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypothy...	ORPHA:79319
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Irritabili...	ORPHA:231226
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing...	OMIM:613658
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension, Short metacarpal, Short 4th metacarpal, Decreased response t...	ORPHA:79443
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Lipo...	ORPHA:99880
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Fetal Gaucher Disease	Stillbirth, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the sple...	ORPHA:85212
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Tremor, Cardiac arrest, Epistaxis, Splenomegaly, Arrhy...	ORPHA:99745
Felty Syndrome	Irregular hyperpigmentation, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infec...	ORPHA:47612
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased circulating brain natriuretic peptide concentration, Ventricu...	OMIM:619747
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Abnormal eati...	ORPHA:209905
Joubert Syndrome 23	Polydactyly, Tachypnea, Apnea	OMIM:616490
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Palpitations, Adrenal pheochromocytoma, Hypertension associated with pheochromocyto...	OMIM:605373
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Stiff-Person Syndrome	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif...	OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Pulmonic stenosis, Renal a...	OMIM:306955
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Myositis, Failure to thrive, Raynaud pheno...	OMIM:615934
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Pancreatic aplasia, Hypoxemia, Aplasia/Hypoplasia of the phalanges of the thumb, ...	ORPHA:556955
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Hyperthyroidism, Familial Gestational	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:603373
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Depression, Cardiomyopathy, Elevated circulating alanine amino...	OMIM:300842
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Angelman Syndrome	Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperactivity, Inability to wa...	ORPHA:72
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased circulating lactate concentration, Gait ataxia, Ataxia, Left ventricular hypertrophy, T...	OMIM:618321
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Glomerulopathy...	ORPHA:91138
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Acute hyperammonemia, Apnea, Episodic metabolic acido...	OMIM:210200
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Congestive heart failure, Splenomegaly, Tachycardia	ORPHA:90037
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Mirizzi Syndrome	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholel...	ORPHA:521219
Cocaine Intoxication	Ischemic stroke, Agitation, Prolonged QT interval, Respiratory distress, Supraventricular arrhyth...	ORPHA:90068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur...	ORPHA:2414
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Hyperactivity, Hypertension, Splenomegaly...	OMIM:270400
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Deviation of finger, Primary gonadal insufficiency, Ataxia, Abn...	ORPHA:1227
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Cafe-au-lait spot, Eleva...	OMIM:615234
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Hypoglycemic seizures, Lactic acidosis, Elevated circulating hepatic transa...	ORPHA:480864
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis...	OMIM:603903
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Slc35A1-Cdg	Hypoxemia, Cellulitis, Pulmonary hemorrhage, Respiratory distress	ORPHA:238459
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, L...	OMIM:612158
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Reduced natural kille...	OMIM:609981
Diffuse Alveolar Hemorrhage	Hypoxemia, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Weight loss	ORPHA:90060
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Late-Onset Isolated Acth Deficiency	Anorexia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, ...	ORPHA:199299
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Holocarboxylase Synthetase Deficiency	Lactic acidosis, Metabolic acidosis, Hyperammonemia, Tachypnea, Lethargy	OMIM:253270
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Perlman Syndrome	Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia	ORPHA:2849
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal...	OMIM:601678
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko...	ORPHA:167
Oligomeganephronia	Congenital diaphragmatic hernia, Polydipsia, Hypertension, Elevated circulating creatinine concen...	ORPHA:2260
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Short toe, Type II diabetes mellitus, ...	ORPHA:3085
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Osteolytic defects of the distal phalanges of the hand, Hypertension, Sinus tachy...	OMIM:614008
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Tularemia	Tachycardia, Respiratory distress	ORPHA:3392
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Pulmonary arterial hypertension, Failure to thrive, Apnea, Tachypnea, Cyanosis	OMIM:265120
Joubert Syndrome 30	Tachypnea, Apnea, Postaxial hand polydactyly	OMIM:617622
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Methylmalonic acidemia, ...	OMIM:251110
Hypercholesterolemia, Familial, 3	Tendon xanthomatosis, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Orthostatic hypotension, Progressive psychomotor deterioratio...	OMIM:268800
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hematemesis, Agitation, Elevated circulating hepatic transaminase concentration, Me...	ORPHA:340
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Right ventricular failure, Secondary h...	ORPHA:90363
Meacham Syndrome	Stillbirth, Enlarged kidney, Accessory spleen, Neonatal death, Horseshoe kidney	OMIM:608978
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Spontaneous, recurrent epistaxis, Hypopigmentation of the skin, Abnorma...	OMIM:614072
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hyperpigmentation of the skin, Hypertension, Pulmonary arteri...	OMIM:230800
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, ...	ORPHA:73224
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen...	OMIM:620367
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hypoka...	OMIM:602522
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Hyponatr...	OMIM:614736
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia,...	OMIM:602450
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Clubbing, Pulmonary arterial hypertension, Hypoxemia, Failure to thrive, Ta...	OMIM:610913
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, 2-3 toe syndactyly, Postax...	OMIM:619471
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Left ventricular hy...	OMIM:613424
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Cognitive impairment	OMIM:616479
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Acrocyanosis, Tachycardia, ...	OMIM:223900
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Dysphagia, Episodic tachypnea	ORPHA:163961
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl...	OMIM:602579
Toxic Epidermal Necrolysis	Polydipsia, Gastrointestinal hemorrhage, Pancreatitis, Elevated circulating hepatic transaminase ...	ORPHA:537
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Elevated circulating hepatic transaminase concentratio...	ORPHA:36426
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Abnormality of the ureter, Sparse body hair, Splenomegal...	ORPHA:1133
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Prolidase Deficiency	Hepatomegaly, Anemia, Diffuse telangiectasia, Facial hirsutism, Low posterior hairline, Hyperimid...	OMIM:170100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hypoadrenocorticism, Familial	Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Apnea, Hypoglycemia, Cyanosis, Adrenal insufficiency	OMIM:240200
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef...	ORPHA:439
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Trichohepatoenteric Syndrome 1	Cholestasis, Cognitive impairment, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Sp...	OMIM:222470
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Clubbing, Facial palsy, Pulmonary arterial hypertension, Hypoxemia, Splenomegaly	OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Clubbing, Hypoxemia, Failure to thrive, Apnea, Tachypnea, Cyanosis	OMIM:610921
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypotension, Increased circu...	OMIM:607364
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Elevated circulating parathyroid hormone level, Achilles tendon calcification, Parath...	OMIM:617994
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Polydipsia, Elevated circulating parathyroid hormone level, Hypocalcemic...	OMIM:248250
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Clubbing, Transient ischemic attack, Pulmo...	ORPHA:2038
Alagille Syndrome 1	Hypertriglyceridemia, Hypoplasia of the ulna, Cirrhosis, Elevated circulating hepatic transaminas...	OMIM:118450
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Synophrys, Thrombocytope...	OMIM:606003
Idiopathic Chronic Eosinophilic Pneumonia	Hypoxemia, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:2902
Acute Adrenal Insufficiency	Delayed puberty, Decreased circulating cortisol level, Salt craving, Anorexia, Increased circulat...	ORPHA:95409
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Ataxia, Recurrent hypoglycemia, ...	OMIM:256810
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Fish-Eye Disease	Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 1	Clinodactyly of the 5th finger, Sandal gap, Macroglossia, Recurrent hand flapping, Polyphagia, Sh...	OMIM:156200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Glycogen Storage Disease Iv	Cirrhosis, Abnormal circulating creatine kinase concentration, Bradycardia, Cardiomyopathy, Porta...	OMIM:232500
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Short humerus, Hepatic steatosis, Aggres...	ORPHA:17
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Kaufman Oculocerebrofacial Syndrome	Metatarsus adductus, Failure to thrive, Hypocholesterolemia, Clinodactyly of the 5th finger	OMIM:244450
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr...	OMIM:171420
Proteus Syndrome	Irregular hyperpigmentation, Enlarged kidney, Calvarial hyperostosis, Lymphangioma, Splenomegaly,...	ORPHA:744
Sialuria	Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Hypoplastic nipples, Hirsutism...	OMIM:269921
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul...	OMIM:616201
Dyskeratosis Congenita	Premature graying of hair, Hypermelanotic macule, Nail dystrophy, Neoplasm of the pancreas, Aplas...	ORPHA:1775
Arima Syndrome	Polydipsia, Cirrhosis, Hepatomegaly, Hypertension, Postaxial hand polydactyly, Hepatic fibrosis, ...	OMIM:243910
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Hepatomegaly, Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Sm...	ORPHA:373
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypopho...	ORPHA:534
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Hepatocellular carcinoma, Hypertension, Hyponatremia, Re...	ORPHA:79276
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Metabolic aci...	OMIM:605911
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomegaly, Hyperpigmentation of the skin, E...	ORPHA:465508
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:131
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ...	ORPHA:54595
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hyperglycinemia, Agitation, Metabolic acidosis, Hyperactivity, Impulsiv...	OMIM:620423
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal...	ORPHA:508
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Elevated lactate:pyruvate ratio, Lactic acidosis, Concentric hypertrophic cardiomyo...	OMIM:252010
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Dyston...	OMIM:257220
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Nail dystrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circula...	OMIM:615895
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Joubert Syndrome 1	Hyperactivity, Self-mutilation, Postaxial hand polydactyly, Clinodactyly, Postaxial foot polydact...	OMIM:213300
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss, Diabetes insipidus	ORPHA:95626
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Aplasia/Hypoplasia of the distal phalanges of the toes, Syncope, Premature ventricul...	OMIM:192445
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Clinodactyly of the 5th finger, Broad-based gait, Tibial bowing, Polyphagia, Short foot, Bilatera...	ORPHA:251028
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Bartter Syndrome Type 4	Severe failure to thrive, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Incre...	ORPHA:89938
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Alopecia of scalp, Hepatomegaly, Emotional lability, Tremor, Splenomegaly, Paronychia	OMIM:201100
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Joubert Syndrome With Oculorenal Defect	Abnormality of the hypothalamus-pituitary axis, Foot polydactyly, Hand polydactyly, Apnea, Ataxia...	ORPHA:2318
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Broad thu...	OMIM:619534
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fi...	ORPHA:2221
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Hypoxemia, Chronic hepatitis, Failure to thrive,...	OMIM:308230
Weaver Syndrome	Radial deviation of finger, Prominent fingertip pads, Flared humeral metaphysis, Broad thumb, Umb...	OMIM:277590
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypoxemia, Clubbing, Weight loss	ORPHA:79127
Asbestos Intoxication	Clubbing of fingers, Oxygen desaturation on exertion, Hypoxemia, Right ventricular failure, Cyano...	ORPHA:2302
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Nephronophthisis 9	Polydipsia	OMIM:613824
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Trisomy 18P	Attention deficit hyperactivity disorder, Abnormal finger morphology, Facial palsy, Polyphagia	ORPHA:1715
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Loss of eyelashes, Hepatomegaly, Cholelithiasis, Hyperpigmentation of the s...	OMIM:263700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lactic acidosis,...	OMIM:251880
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Glycerol Kinase Deficiency	Hypertriglyceridemia, Muscular dystrophy, Ketoacidosis, Hyperglycerolemia, Chronic pancreatitis, ...	OMIM:307030
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Abscess, Osteolysis	OMIM:612852
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Enlarged kidney	ORPHA:276280
Dubowitz Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Hyperactivity, Syndactyly, Hypocholesterolemia	OMIM:223370
Cardiomyopathy, Dilated, 2H	Tachypnea, Reduced left ventricular ejection fraction	OMIM:620203
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Elevated circulating hepatic transaminase concentration, Early ossific...	ORPHA:397715
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Splenomegaly, Lymphopenia, Penile freckling, Coarse hair	OMIM:605309
Achondroplasia	Short proximal phalanx of finger, Rhizomelia, Trident hand, Hypoxemia, Obesity, Short middle phal...	ORPHA:15
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Tachycardia	ORPHA:90036
Joubert Syndrome 3	Ataxia, Central apnea, Episodic tachypnea	OMIM:608629
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Prolidase Deficiency	Hepatomegaly, Reduced bone mineral density, Hirsutism, Recurrent cystitis, White forelock, Abnorm...	ORPHA:742
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Hypotension...	ORPHA:549
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Clubbing, Hypoxemia, Weight loss, Cyanosis	ORPHA:747
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Adnp Syndrome	Polydactyly, Abnormal temper tantrums, Inguinal hernia, Respiratory distress, Oral-pharyngeal dys...	ORPHA:404448
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Tangier Disease	Nail dysplasia, Nail dystrophy, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Myocard...	OMIM:205400
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leuk...	ORPHA:77297
Immunodeficiency 10	Autoimmune hemolytic anemia, Nail dysplasia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tra...	OMIM:612783
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Genu valgum, Aggressive behavior, Corneal scarring, Elevated circulating creatine...	OMIM:309000
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema...	ORPHA:171
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Ochoa Syndrome	Polydipsia, Hypertension	ORPHA:2704
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Cardiomyopathy, Polysplenia, Renal cyst, Pulmonic ste...	OMIM:312870
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Hypoxemia, Mitral stenosis, P...	ORPHA:2847
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hyperpigmentation of th...	ORPHA:293173
Chromosome Xq26.3 Duplication Syndrome	Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Pituitary adenoma, ...	OMIM:300942
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response, Mitral regurgitation	ORPHA:309155
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Cranial hyperostos...	OMIM:259720
Luscan-Lumish Syndrome	Obesity, Advanced ossification of carpal bones, Polyphagia, Aggressive behavior	OMIM:616831
Tangier Disease	Hypertriglyceridemia, Facial diplegia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypochol...	ORPHA:31150
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Clubbing of fingers, Acrocyanosis	ORPHA:2032
Proximal Renal Tubular Acidosis	Bicarbonaturia, Polydipsia, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Hypovolemia,...	ORPHA:47159
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega...	OMIM:210250
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ...	ORPHA:294
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ...	OMIM:619418
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglyc...	OMIM:227810
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Respiratory distress	OMIM:267450
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Neutropenia, Dystonia, Splenomegaly, Albinism, Ocular albinism	OMIM:617050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:617156
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Mitochondrial Trifunctional Protein Deficiency 2	Metabolic acidosis, Increased circulating NT-proBNP concentration, Elevated circulating creatine ...	OMIM:620300
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Salt craving, An...	ORPHA:85138
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Heart murmur, Mobitz I atrioventricular block, Aortic regurgitati...	ORPHA:216694
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Tachycardia, Hepatopu...	OMIM:618280
Multiple Sulfatase Deficiency	Hepatomegaly, Mucopolysacchariduria, Abnormality of retinal pigmentation, Thick eyebrow, Splenome...	ORPHA:585
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Hand clenching, Apnea, Flexion c...	OMIM:614653
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Noonan Syndrome With Multiple Lentigines	Multiple lentigines, Hypospadias, Abnormal localization of kidney, Hypertrophic cardiomyopathy, P...	ORPHA:500
Helsmoortel-Van Der Aa Syndrome	Irritability, High anterior hairline, Enlarged kidney, Recurrent urinary tract infections, Enures...	OMIM:615873
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Choking episodes, Pulmonic stenosis, Syndactyly, Polydac...	OMIM:619488
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Hepatome...	ORPHA:540
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:616026
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Aortic valve stenosi...	ORPHA:96121
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Familial Tumoral Calcinosis	Hypopigmented skin patches, Hepatomegaly, Hyperostosis, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Scrub Typhus	Myocarditis, Lymphadenopathy, Tremor, Hypotension, Splenomegaly, Renal insufficiency	ORPHA:83317
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Poems Syndrome	Leukonychia, Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Visceromegaly, Ascites...	ORPHA:2905
Wilson Disease	Portal fibrosis, Ascites, Limb dystonia, Acute hepatic failure, Splenomegaly, Hepatic steatosis, ...	OMIM:277900
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea, Episodic ketoacidosis	OMIM:245050
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hypokalemic hypoch...	OMIM:613090
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Tricuspid regurgitati...	ORPHA:404443
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration...	OMIM:617072
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Generalized hypopigmentation, Ocular albinism, Hepa...	OMIM:608233
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Irritability, Hepatomegaly, Generalized aminoaciduria, Delayed epiphyseal ossification, ...	ORPHA:289157
Wagro Syndrome	Agitation, Hypertension, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior	OMIM:612469
Joubert Syndrome	Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Foot polydactyly, Hand polydact...	ORPHA:475
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Advanced ossification of carpal bones, Blue irides, Fair hair	OMIM:614613
Adams-Oliver Syndrome 5	Dystrophic toenail, Pulmonary arterial hypertension, Absent toenail, Portal vein thrombosis, Pulm...	OMIM:616028
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Chole...	OMIM:610199
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Hirsutism, Pulmonary arterial hypertension, Dermatan sulfate ...	OMIM:607015
Distal Renal Tubular Acidosis	Polydipsia, Decreased serum bicarbonate concentration, Hypokalemia, Chronic metabolic acidosis, F...	ORPHA:18
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao...	ORPHA:2299
Sickle Cell Anemia	Ischemic stroke, Jaundice, Cholelithiasis, Finger dactylitis, Splenic infarction, Pulmonary arter...	ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypertyrosinem...	OMIM:124000
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Gait disturbance, Foot ...	ORPHA:2754
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Highly arched eyebrow, Slow-growing hair, Right bundle branch block, Low ...	OMIM:617506
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Hepatocellular n...	OMIM:618278
Carney Triad	Anorexia, Gastrointestinal hemorrhage, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, ...	ORPHA:139411
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Hyperammonemia,...	OMIM:617049
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Hypot...	OMIM:608643
1P36 Deletion Syndrome	Dysphagia, Hypogonadism, Hepatic steatosis, Myopathy, Telangiectasia, Failure to thrive, Self-inj...	ORPHA:1606
Renal Hypoplasia	Polydipsia, Hypertension, Small for gestational age	ORPHA:93101
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, El...	OMIM:603553
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Oroticaciduria, Pulmonary hemorrhage, Osteo...	OMIM:222700
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular...	OMIM:613873
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Cardiomyopathy, Sideroblastic ane...	OMIM:616084
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Delayed puberty, Rocker bottom foot, Calf muscle hypertrophy, ...	ORPHA:79474
Marbach-Rustad Progeroid Syndrome	Reduced bone mineral density, Pulmonary insufficiency, Right bundle branch block, Intention tremor	OMIM:619322
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Heart block, Renal insuff...	ORPHA:228308
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic ane...	OMIM:615512
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He...	ORPHA:163746
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ...	OMIM:203300
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar...	ORPHA:91351
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Bradycardia, Thyroid hypoplasia, Inappropriate antid...	ORPHA:226307
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis	ORPHA:85414
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary ...	OMIM:612541
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Chronic Granulomatous Disease	Hypermelanotic macule, Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Ab...	ORPHA:379
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Bronchiolitis Obliterans	Hypoxemia	ORPHA:1303
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec...	ORPHA:93672
Nephronophthisis 11	Polydipsia, Hepatic fibrosis	OMIM:613550
Neonatal Marfan Syndrome	Lipoatrophy, Tricuspid regurgitation, Hypoxemia, Arachnodactyly, Long fingers, Flexion contractur...	ORPHA:284979
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, He...	ORPHA:1655
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
Joubert Syndrome 2	Postaxial hand polydactyly, Failure to thrive, Ataxia, Episodic tachypnea, Central apnea, Postaxi...	OMIM:608091
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Abnormal cortical bone morphology, Abnormal ha...	ORPHA:2796
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Hirsutism, Cardiomyopathy, Exaggerated startle ...	ORPHA:79255
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Failure to thrive, Ventr...	OMIM:300952
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Porphyria, Acute Intermittent	Tachycardia, Hepatocellular carcinoma, Hypertension	OMIM:176000
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Abnormal toenail morphology, Orotic acid cryst...	ORPHA:30
Pheochromocytoma	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr...	OMIM:171300
Pneumocystosis	Hypoxemia, Weight loss	ORPHA:723
Helix Syndrome	Polydipsia, Hypermagnesemia, Hypokalemia, Hyperparathyroidism	OMIM:617671
Gray Platelet Syndrome	Myelofibrosis, Abnormal number of alpha granules, Epistaxis, Thrombocytopenia, Splenomegaly	OMIM:139090
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Metabolic acidosis, Lactic acid...	OMIM:232240
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Pollakisuria, Right bundle branch block, Right ventri...	ORPHA:268
Panbronchiolitis, Diffuse	Hypoxemia	OMIM:604809
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Right bundle branch block, Hypertrichosis	OMIM:618590
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Imerslund-Gräsbeck Syndrome	Tachycardia, Failure to thrive, Weight loss	ORPHA:35858
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Short distal phalanx of toe, Stippling of the epiphyses of...	ORPHA:79345
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, ...	ORPHA:90790
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly, Aortic regurgitation	ORPHA:93474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Thyrotoxicosis with diffuse goiter, Postprandial hyperglycemia, Lower limb...	ORPHA:79102
Gm2 Gangliosidosis, Ab Variant	Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment	ORPHA:309246
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Anemia, White hair, Cognitive impairment, Lymphopenia, Fine hair, A...	ORPHA:935
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal left ventricular function...	ORPHA:781
Double Outlet Left Ventricle	Abnormal right ventricular function, Systolic heart murmur, Failure to thrive, Tachypnea, Cyanosis	ORPHA:3427
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome,...	ORPHA:342
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated circulating creatinine concentration, Orthostatic hypotension, Orthost...	ORPHA:230
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Histiocytosis-Lymphadenopathy Plus Syndrome	Alopecia of scalp, Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Retroperitoneal ...	OMIM:602782
Leopard Syndrome 1	Multiple lentigines, Hypospadias, Unilateral renal agenesis, Hypertrophic cardiomyopathy, Third d...	OMIM:151100
Surfactant Metabolism Dysfunction, Pulmonary, 4	Failure to thrive, Tachypnea	OMIM:300770
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect...	ORPHA:391665
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co...	OMIM:613986
Cockayne Syndrome Type 3	Premature graying of hair, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Increased blood ...	ORPHA:90324
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Increased bone mineral density, Pulmonary arterial...	ORPHA:77261
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Tempi Syndrome	Hypoxemia, Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Autoimmune hypoparathyroidism, Ventri...	ORPHA:36913
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus t...	OMIM:232300
Teratoma, Pineal	Polydipsia	OMIM:273120
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Elevated circulating hepatic transaminase concentration, Calciu...	ORPHA:416
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Short 4th metacarpal, Prolonged QT interval, Short metatarsal, Hallux valgus, Hy...	ORPHA:1772
Gaucher Disease	Leukopenia, Splenomegaly, Osteolysis, Pancytopenia, Depression, Increased bone mineral density, T...	ORPHA:355
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ...	ORPHA:91347
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Vasculiti...	ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Multiple Endocrine Neoplasia, Type I	Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is...	OMIM:131100
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality	OMIM:607485
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Clubbing of fingers, Failure to thrive, Ventricular tachycardia, Dilate...	OMIM:605676
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the s...	ORPHA:79430
Vici Syndrome	Congestive heart failure, Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin...	OMIM:242840
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Failure to ...	OMIM:620519
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Psoriasis 14, Pustular	Cholangitis, Nail dystrophy, Neutrophilia, Leukocytosis	OMIM:614204
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Clubbing of fingers, Hypoxemia, Right ventricular failure, Di...	ORPHA:199241
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Exaggerated startle response, Bradycardia	OMIM:608800
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hypertension...	OMIM:115310
Cardiac Diverticulum	Congestive heart failure, Abnormality of the diaphragm, Angina pectoris, Diastasis recti, Tricusp...	ORPHA:1686
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh...	ORPHA:1880
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Clinodactyly of the 5th finger, Sandal gap, Pulmonic stenosis, Paroxysmal supraventricular tachyc...	OMIM:617877
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ...	OMIM:608203
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Axial dystonia, Depression, Low frustration tolerance, Bone-marrow foam c...	ORPHA:646
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnorma...	ORPHA:3464
Nephronophthisis 1	Polydipsia, Hypertension	OMIM:256100
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Sandal gap, Hypocalcemia, Broad-based gait, Polyphagia, Fixated intere...	OMIM:620330
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration	OMIM:266900
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly, Cranial hyperostosis	OMIM:612918
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Scarring, Hepatomegaly, Abnormali...	ORPHA:797
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Pulmonary Alveolar Proteinosis, Acquired	Clubbing, Hypoxemia, Cyanosis	OMIM:610910
Truncus Arteriosus	Adrenocortical abnormality, Aortic regurgitation, Hypoplasia of the thymus, Pulmonic stenosis, Ab...	ORPHA:3384
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
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
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Clubbing, Pulmonary arterial hypertension, Hypoxemia, Splenomegaly, Weigh...	OMIM:181000
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Hepatoerythropoietic Porphyria	Osteopenia, Loss of eyelashes, Red urine, Scarring alopecia of scalp, Hyperpigmentation of the sk...	ORPHA:95159
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair, Coronal craniosynost...	ORPHA:53271
Plague	Anorexia, Hematemesis, Hepatomegaly, Respiratory distress, Hypotension, Unsteady gait, Splenomega...	ORPHA:707
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of ...	ORPHA:2751
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Splenomegal...	ORPHA:1572
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Congenital Erythropoietic Porphyria	Osteopenia, Loss of eyelashes, Increased urinary porphobilinogen, Scarring alopecia of scalp, Hyp...	ORPHA:79277
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Weight loss, Tachycardia	ORPHA:71273
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hypertension, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephros...	OMIM:617913
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Short attention span, Iris hypopi...	ORPHA:98794
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou...	ORPHA:96169
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Nephronophthisis 4	Polydipsia	OMIM:606966
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Brucellosis	Lung abscess, Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Depre...	ORPHA:1304
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Athetosis, Ureteral stenosis, Iris hypopigmentation, Abnormalit...	ORPHA:2719
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia	OMIM:141000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Right ventricular hypertrophy, Tachypnea, Pulmonary arterial hypertension	ORPHA:217563
Legius Syndrome	Polydactyly, Xanthelasma, Clinodactyly of the 5th finger, Hyperactivity, Pulmonic stenosis, Parox...	ORPHA:137605
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Tremor, Exaggerated startle response	OMIM:620327
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:613471
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Goodpasture Syndrome	Increased blood urea nitrogen, Weight loss, Pulmonary hemorrhage, Tachypnea, Cyanosis	OMIM:233450
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Liver Disease, Severe Congenital	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, ...	OMIM:619991
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Abnormality o...	ORPHA:667
Tay-Sachs Disease	Memory impairment, Depression, Tremor, Short attention span, Exaggerated startle response, Laryng...	ORPHA:845
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Short attention span, Exaggerated startle response	OMIM:617864
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion...	OMIM:160980
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response	OMIM:616881
Marfan Syndrome	Congestive heart failure, Abnormal left ventricular function, Aortic regurgitation, Inguinal hern...	ORPHA:558
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:881
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leu...	OMIM:620376
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Hyperekplexia 3	Syncope, Exaggerated startle response	OMIM:614618
Chromosome 1P36 Deletion Syndrome, Distal	Clinodactyly of the 5th finger, Short foot, Noncompaction cardiomyopathy, Polyphagia, Camptodacty...	OMIM:607872
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly	OMIM:231005
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly, Short 5th metacarpal	ORPHA:66518
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, In...	OMIM:218700
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr...	OMIM:620185
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Epistaxis, Stomatocytosis, Hemoly...	OMIM:153670
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph...	OMIM:617099
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo...	OMIM:142900
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Reduced left ventricular ejection fraction, Bradycard...	ORPHA:99829
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Smooth Muscle Dysfunction Syndrome	Tachypnea, Hypertension, Pulmonary arterial hypertension	OMIM:613834
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
African Trypanosomiasis	Myocarditis, Congestive heart failure, Irritability, Jaundice, Hepatomegaly, Lymphadenopathy, Uri...	ORPHA:3385
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Osteoporosis, Prolonged neona...	ORPHA:565
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Overlapping toe, Ventricular arrhythmia, Umbilical hernia	OMIM:620475
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Splenomegaly, Sparse hair, Aplasia of the sweat glands	OMIM:612132
Joubert Syndrome 5	Ataxia, Central apnea, Episodic tachypnea, Aggressive behavior	OMIM:610188
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Brittle Cornea Syndrome	Pulmonic stenosis, Abnormality of hair pigmentation, Osteoporosis	ORPHA:90354
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hirsutism, Exaggerated startle response, Cognitive impairment	OMIM:617527
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Cyanosis, Respiratory distress, Low-output congestive heart failure, Pulmonary arte...	ORPHA:99125
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Retinitis Pigmentosa	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Renal hypoplasia/aplasia, Hypospadias, Hypopigmentation of hair, ...	ORPHA:818
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Exaggerated startle response, Long eyelashes	OMIM:617281
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ...	OMIM:181270
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Plaa-Associated Neurodevelopmental Disorder	Hirsutism, Dystonia, Exaggerated startle response	ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Long eyelashes	OMIM:617301
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Asparagine Synthetase Deficiency	Irritability, Tremor, Exaggerated startle response	OMIM:615574
Marshall-Smith Syndrome	Clinodactyly of the 5th finger, Hypertension, Decreased body weight, Prominent fingertip pads, Pu...	OMIM:602535
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension	ORPHA:2282
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Developmental And Epileptic Encephalopathy 111	Inguinal hernia, Sinus tachycardia, Hypertension, Premature ventricular contraction, Umbilical he...	OMIM:620504
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Right bundle branch block, Tricuspid regurgitation, Nephrocalcinosis, Micro...	OMIM:617402
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response, Lacticaciduria	OMIM:620451
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Right bundle branch block, Micropenis, Hypertrophic cardiomyopathy	OMIM:617403
Pmm2-Cdg	Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric...	ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Pulmonic stenosis, Dilated cardiomyopathy, Exaggerated startle response	OMIM:253800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, High anterior hairline, Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated s...	ORPHA:438213
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypoplastic toenails, Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral ...	OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Inability to walk, Truncal ataxia, Tricuspid regu...	OMIM:620066
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Thick eyebrow, Exaggerated startle response	OMIM:618367
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arr...	OMIM:309801

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.

There is no histopathology data for Hif1an

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Hif1an.

No publications found that use IMPC mice or data for Hif1an.

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MGI Allele	Allele Type	Produced
Hif1an^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Hif1an^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Hif1an MGI:2442345

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Hif1an mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data