Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pdcd7 MGI:1859170

Gene Summary

Name:

programmed cell death 7

Synonyms:

ES18

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal liver morphology	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Pdcd7^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Pdcd7^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
increased heart rate	Pdcd7^em1(IMPC)Mbp	HET	Early adult	9.28×10^-06
shortened RR interval	Pdcd7^em1(IMPC)Mbp	HET	Early adult	3.84×10^-05
enlarged testis	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
increased red blood cell distribution width	Pdcd7^em1(IMPC)Mbp	HET	Early adult	5.24×10^-05
abnormal placenta morphology	Pdcd7^em1(IMPC)Mbp	HET	E15.5	0.00
persistence of hyaloid vascular system	Pdcd7^em1(IMPC)Mbp	HET	Early adult	8.04×10^-08
embryonic lethality prior to organogenesis	Pdcd7^em1(IMPC)Mbp	HOM	E9.5	0.00
small liver	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
decreased circulating serum albumin level	Pdcd7^em1(IMPC)Mbp	HET	Early adult	9.37×10^-06
small seminal vesicle	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

View images

Human diseases caused by Pdcd7 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 Pdcd7 (0 diseases)
Human diseases predicted to be associated with Pdcd7 (1145 diseases)

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

The table below shows human diseases predicted to be associated to Pdcd7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am...	OMIM:613752
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir...	ORPHA:64743
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia	OMIM:121300
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ...	OMIM:618805
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
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
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T...	ORPHA:90037
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Jaundice, ...	ORPHA:231226
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circula...	OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Gombo Syndrome	Microphthalmia	OMIM:233270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Focal Segmental Glomerulosclerosis 1	Anemia, Hypertension, Hyperlipidemia, Ascites, Hypoalbuminemia	OMIM:603278
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Inc...	ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Melena, Elevated circulating hepatic transaminase ...	ORPHA:98870
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Hypertension, Ascites, Pulmo...	OMIM:617021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Foc...	ORPHA:276575
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Acute Peripheral Arterial Occlusion	Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,...	ORPHA:90064
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ...	OMIM:619747
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Optic Atrophy 16	Paroxysmal tachycardia, Temporal optic disc pallor	OMIM:620629
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Hypoalbum...	OMIM:608104
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Partington Syndrome	Facial telangiectasia, Macroorchidism	ORPHA:94083
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hy...	OMIM:226300
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Oligozoospermia, Macroorchidism, Long penis	ORPHA:3000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Inc...	ORPHA:276580
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating...	ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Ret...	ORPHA:79320
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Internal hemorrhage, Decreased testicular size, Splenic rupture, Right ...	ORPHA:335
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C...	ORPHA:91547
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalb...	ORPHA:79319
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Increased C-peptide level, Decreased circulating free fatty acid level...	ORPHA:324575
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr...	ORPHA:247598
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Abnormal salivary gland morphology, Increased ...	ORPHA:85443
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Jaundice, Hepatomegaly...	ORPHA:540
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Polyembryoma	Isosexual precocious puberty, Abnormal peritoneum morphology, Abdominal mass, Elevated circulatin...	ORPHA:180229
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Cardiomyopathy, H...	ORPHA:292
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Cardiomyopath...	OMIM:212138
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem...	ORPHA:3202
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cirrhotic Cardiomyopathy	Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left ventricular hypertrophy, Card...	ORPHA:57777
Aicardi-Goutieres Syndrome 9	Optic atrophy, Hepatomegaly, Anemia, Increased blood pressure, Elevated circulating hepatic trans...	OMIM:619487
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Left ventricular hype...	OMIM:601493
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Hypertension, Myocardial infarction	ORPHA:54370
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle...	ORPHA:563
Variegate Porphyria	Tachycardia	OMIM:176200
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Cardiom...	ORPHA:324410
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Prolonged QT interval, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:26793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hepatic failure	OMIM:602579
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Macroorchidism	ORPHA:3077
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Eosinophili...	ORPHA:2070
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Fibronectin Glomerulopathy	Hypoalbuminemia, Hypertension, Cerebral hemorrhage	ORPHA:84090
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, L...	OMIM:612158
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic st...	OMIM:617303
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Splenomegaly	ORPHA:796
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Snakebite Envenomation	Hypotension, Cerebral ischemia, Hyponatremia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Int...	ORPHA:449285
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ov...	ORPHA:543
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, Thyroid ...	ORPHA:90674
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Ascites, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia	OMIM:608776
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Elevated...	ORPHA:398124
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Left ventricular hy...	OMIM:613424
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Goiter, Hypokalemia	OMIM:188580
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Abnormal testis morphology, Prec...	ORPHA:562
Alg1-Cdg	Decreased liver function, Hypoalbuminemia, Cardiomyopathy	ORPHA:79327
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema...	ORPHA:171
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Aortic regurgitation, Hypospadias, Abnormality of iron homeost...	OMIM:222470
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotens...	ORPHA:186
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:617156
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Galactosemia Iii	Hypergalactosemia, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Liver abscess, Anemia, Elevated circulating hepatic transaminase concen...	ORPHA:67
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ...	ORPHA:231222
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Avian Influenza	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Elevated circu...	ORPHA:454836
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Cardiomegaly, Third h...	ORPHA:1329
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Hepatomegaly	OMIM:604273
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transamin...	OMIM:613327
Reni Syndrome	Hypertriglyceridemia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Cryptorchidism, Micropenis	OMIM:617575
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro...	ORPHA:91349
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Histiocytoid Cardiomyopathy	Optic atrophy, Congestive heart failure, Atrial flutter, Hepatomegaly, Wolff-Parkinson-White synd...	ORPHA:137675
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper...	OMIM:145600
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Coronary Arterial Fistula	Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Elevated jugular venous pre...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular...	OMIM:613873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating polysaccharide concentration, Abnormal circul...	ORPHA:103910
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot...	OMIM:617093
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Elevated circulating alanin...	OMIM:619048
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia	ORPHA:104
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Decreased liver function, Macrovesicular hepatic steatosis, Elevated circulating h...	OMIM:618329
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:159
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Hereditary Coproporphyria	Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma	ORPHA:79273
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Abetalipoproteinemia	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	ORPHA:14
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypocalcemia, Increased circulating myelocyte count, Hypotension, El...	ORPHA:36234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Hyperkalemia, Abnormal female exter...	ORPHA:90790
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia	ORPHA:90036
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Congestive heart failure, Enlarged kidney, Anemia, Pulmonary arterial hypertension...	ORPHA:505248
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Pul...	ORPHA:567548
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Angina pectoris, Splenome...	ORPHA:79292
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Bradycardia, Reticulocytosis, Pericardit...	ORPHA:99826
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
47,Xyy Syndrome	Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ...	ORPHA:8
Myotonic Dystrophy 2	Right bundle branch block, Oligozoospermia, Elevated circulating creatine kinase concentration, P...	OMIM:602668
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, C...	ORPHA:860
Immunodeficiency 43	B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin...	OMIM:241600
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Elevated circulating carcinoembryonic antigen concentration, Abnormal circulating pr...	ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Optic disc pallor, Hypergonadotropic hypogonadism	OMIM:619737
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopen...	ORPHA:79312
Porphyria Variegata	Anemia, Elevated circulating hepatic transaminase concentration, Tachycardia, Hypertension, Hepat...	ORPHA:79473
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Elevat...	OMIM:300257
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test...	ORPHA:485405
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr...	OMIM:171420
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Generalized Pustular Psoriasis	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Elevated circu...	ORPHA:247353
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly	ORPHA:721
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, ...	ORPHA:263455
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased response to growth hormone stimulation test	OMIM:618347
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s...	OMIM:618234
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial ...	ORPHA:49827
Fragile X Syndrome	Macroorchidism	ORPHA:908
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Elevated circulating hepatic transaminase concentration, Prolo...	OMIM:616878
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Coloboma, Ascites, Hyponatremia, Hematochezia, Hypomagnesemia...	OMIM:618183
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocyto...	ORPHA:139411
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ...	OMIM:277900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej...	ORPHA:542323
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel...	OMIM:611705
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly...	ORPHA:108
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Goiter, Hypokalemia	OMIM:613239
Chylomicron Retention Disease	Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia	OMIM:246700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Amyloidosis, Familial Visceral	Hypertension, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Micropenis	OMIM:613870
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulatin...	OMIM:300842
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, ...	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Mmep Syndrome	Microphthalmia	ORPHA:3434
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypergonad...	OMIM:212065
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D...	ORPHA:52901
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly	OMIM:229700
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Pheochromocytoma/Paraganglioma Syndrome 3	Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Tachycardia, Palpitation...	OMIM:605373
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hyperalanin...	ORPHA:348
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Porphyria, Acute Intermittent	Tachycardia, Reduced erythrocyte porphobilinogen deaminase activity, Hepatocellular carcinoma, Hy...	OMIM:176000
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Megaloblastic anemia, Car...	OMIM:277400
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Neuroleptic Malignant Syndrome	Hyperkalemia, Pulmonary embolism, Elevated circulating hepatic transaminase concentration, Bradyc...	ORPHA:94093
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Hepatosplenomegaly, Abnorma...	OMIM:232500
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
High Altitude Pulmonary Edema	Tachycardia, Leukocytosis	ORPHA:330012
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur...	ORPHA:2414
Eisenmenger Syndrome	Ascites, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure...	ORPHA:97214
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Stiff-Person Syndrome	Tachycardia, Hypertension, Anemia	OMIM:184850
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Peritonitis	ORPHA:656
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated...	OMIM:269920
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Elevated ...	OMIM:613205
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly,...	ORPHA:465508
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Tetanus	Tachycardia, Hypertension, Elevated circulating creatine kinase concentration, Bradycardia	ORPHA:3299
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma	OMIM:618874
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cholelithiasis, Pancyto...	ORPHA:77259
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Hypocalcemia, Pulmonic stenosis, Heart murmur, Aplasia/Hypoplasi...	ORPHA:3426
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Pheochromocytoma/Paraganglioma Syndrome 1	Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Tachycardia, Palpitation...	OMIM:168000
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Azoospermia, Urogen...	ORPHA:1772
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicocele, Syncope	ORPHA:71273
Hydroxykynureninuria	Tachycardia, Abnormal circulating tryptophan concentration, Hypotension	ORPHA:79155
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Hypospadias, Retinal detachment, B lymph...	ORPHA:79324
Kawasaki Disease	Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Elevated circulating C...	ORPHA:2331
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Ascites, Hypoalbuminemia, Pulmonary embolism, Hydrocele testis	ORPHA:567546
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Right ventricular failure, Chylous asc...	ORPHA:90363
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H...	ORPHA:86816
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia...	ORPHA:466677
Xfe Progeroid Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Hy...	OMIM:610965
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ...	ORPHA:423
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Cardiomyopathy, Splenomegaly	ORPHA:93476
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia...	ORPHA:2298
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pulmonary ly...	OMIM:235510
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left ventricular ejecti...	OMIM:115197
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat...	OMIM:618775
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypertension, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagi...	OMIM:270400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Hyperthyroidism, Nonautoimmune	Tachycardia, Goiter, Increased circulating thyroglobulin concentration, Thyroid hyperplasia	OMIM:609152
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:131
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Sickle Cell Anemia	Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Pheochromocytoma	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr...	OMIM:171300
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hematochezia, Hypokalemia	OMIM:174900
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein concentrati...	OMIM:619381
Trisomy 20P	Cryptorchidism, Hypospadias, Macroorchidism	ORPHA:261318
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hepatic failure	ORPHA:664
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Anemia, Melena, Freckled genitalia, Hematochezia, Intestinal bleedin...	ORPHA:79076
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenomegaly, Hyper...	OMIM:619046
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, E...	ORPHA:264580
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ...	ORPHA:89842
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Familial Dysautonomia	Optic atrophy, Orthostatic hypotension, Abnormal peritoneum morphology, Hypertension, Hyponatremi...	ORPHA:1764
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormal platelet morphology, Splenomega...	ORPHA:3318
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Righ...	OMIM:232300
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Hyperkalemia, Anemia, Melena, Elevated circulating hepatic transaminase concentratio...	ORPHA:340
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperurice...	ORPHA:79083
Mercury Poisoning	Tachycardia, Hypertension, Hypotension, Hypokalemia	ORPHA:330021
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Ascites, ...	OMIM:619534
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Cofs Syndrome	Microphthalmia	ORPHA:1466
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Left bundle branch...	OMIM:610131
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a...	ORPHA:1359
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, R...	ORPHA:542306
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Hepatomegal...	ORPHA:280365
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia	OMIM:613885
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome...	OMIM:216360
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomy...	ORPHA:2348
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Autoimmune hypoparathyroidism, Ventri...	ORPHA:36913
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Dysplastic teste...	OMIM:608800
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Cholera	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypovolemic shock, Hypotension, Hypo...	ORPHA:173
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy, Pancytopenia	OMIM:618321
Pediatric-Onset Graves Disease	Congestive heart failure, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:525731
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension, Hepatic failure	ORPHA:43116
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation...	OMIM:300952
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo...	ORPHA:1655
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P...	ORPHA:549
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Vasculitis, Viral hepatit...	ORPHA:91138
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:309854
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattachment, Neopla...	ORPHA:744
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Tachycardia, Elevated circu...	OMIM:223900
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea...	OMIM:617388
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypocalcemia,...	ORPHA:31826
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Tricuspid regurgitati...	ORPHA:404443
Prolidase Deficiency	Hepatomegaly, Anemia, Diffuse telangiectasia, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Pierpont Syndrome	Microphthalmia	OMIM:602342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Hypernatremia, Hypoalbuminemia	OMIM:615508
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Pheochromocytoma/Paraganglioma Syndrome 4	Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Tachycardia, Palpitation...	OMIM:115310
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Hypospadias, Pancytopenia, Ambiguous genitalia, Hyp...	OMIM:619488
Acute Intermittent Porphyria	Tachycardia, Hyponatremia, Hepatocellular carcinoma, Hypertension	ORPHA:79276
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Hypercalcemia, Splenomegaly, Lacunar stroke, Cryptorchidism	OMIM:618440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Splenomegaly, ...	OMIM:235255
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Abnormal reproductive system morpho...	ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Hypertension	OMIM:617729
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena, Elevated circulating hepati...	OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic...	OMIM:620376
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Mitral regurgitation, Macroorchidism, Neutropenia	OMIM:208400
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Macroorchidism	ORPHA:93
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Gitelman Syndrome	Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin level, Ventricular t...	OMIM:263800
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditis, ...	OMIM:249100
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c...	OMIM:615688
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Cryptorchidism, Hypo...	ORPHA:251066
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:613471
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	OMIM:612387
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Galloway-Mowat Syndrome 1	Optic atrophy, Hypoalbuminemia	OMIM:251300
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi...	ORPHA:1454
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Epistaxis, Stomatocytosis, Hemoly...	OMIM:153670
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hyperten...	OMIM:612541
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Splenomegaly, Heart murmur, Optic nerve dysplasia, Optic atrop...	OMIM:614866
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia, S...	OMIM:239200
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98855
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Portal vein thrombosis, Pulmonic stenosis, Splenomegaly, Right v...	OMIM:616028
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla...	OMIM:610199
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Ventricular...	OMIM:620519
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Scheie Syndrome	Hepatomegaly, Splenomegaly, Aortic regurgitation	ORPHA:93474
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, H...	OMIM:259720
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Splenomegal...	ORPHA:1572
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:261
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98853
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, Elevated ...	ORPHA:781
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertension, Polycythe...	ORPHA:2905
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Plague	Hematemesis, Hepatomegaly, Lymphadenitis, Hypotension, Splenomegaly, Arrhythmia, Tachycardia, Enl...	ORPHA:707
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Supraventricular arrhythmia, Increased LDL cholesterol concentration, Eleva...	ORPHA:98863
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia	OMIM:620475
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Reduced left ventricular ejection fracti...	ORPHA:254892
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemi...	OMIM:222700
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:611134
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg...	OMIM:616084
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly	OMIM:231005
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic...	OMIM:269700
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele	ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Rodrigues Blindness	Microphthalmia	OMIM:268320
Atelis Syndrome 2	Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosi...	OMIM:620185
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic...	OMIM:608594
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Cryptorchidism	OMIM:620504
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Aortic regurgitation, Hypoplasia of the...	ORPHA:84064
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Pericarditis, Acute hepatic fai...	ORPHA:342
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Elevated circulatin...	ORPHA:1304
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Decreased response to growth hormone stimulation test, Ele...	ORPHA:273
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Encephalocele	ORPHA:228390
Monosomy 18P	Microphthalmia	ORPHA:1598
Yellow Fever	Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, H...	ORPHA:99829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,...	OMIM:619991
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Temtamy Syndrome	Microphthalmia	OMIM:218340
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Truncus Arteriosus	Aortic regurgitation, Cardiomegaly, Hypoplasia of the thymus, Pulmonic stenosis, Abnormal heart v...	ORPHA:3384
Microphthalmia/Coloboma 12	Optic disc coloboma, Optic nerve aplasia, Chorioretinal coloboma, Remnants of the hyaloid vascula...	OMIM:120200
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Thromboc...	OMIM:263700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
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
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Pmm2-Cdg	Abnormal liver parenchyma morphology, Hyperplastic labia majora, Elevated circulating hepatic tra...	ORPHA:79318
Moebius Syndrome	Microphthalmia	OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Frontofacionasal Dysplasia	Microphthalmia, Encephalocele	ORPHA:1791
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Leukocytosis,...	ORPHA:32960
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Hypogonadism, Arrhythmia	ORPHA:163746
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Tractional re...	ORPHA:91495
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele	OMIM:614424
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Enlarged pituitary gland, Increased circulating gonadotropin level, Hyp...	ORPHA:91347
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Pulmonic stenosis, Paroxysmal atrial tachycardia, Mal...	ORPHA:137605
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Refsum Disease	Microphthalmia	ORPHA:773
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Breast aplasia, Supraventricular tachycardia, Hypertension, Iris coloboma	OMIM:181270
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co...	OMIM:620066
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Hypertension, Hypoproteinemia, Remnants of the hyaloid ...	OMIM:609049
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele	OMIM:619148
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Adams-Oliver Syndrome	Microphthalmia, Encephalocele	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Marfan Syndrome	Congestive heart failure, Aortic regurgitation, Retinal detachment, Mitral regurgitation, Ventric...	ORPHA:558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Micro Syndrome	Microphthalmia	ORPHA:2510
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Cardiomegaly, Low-output congestive heart failure, Pulmonary arterial hypertension,...	ORPHA:99125
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Frontonasal Dysplasia 2	Microphthalmia, Encephalocele	OMIM:613451
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele	OMIM:253800
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Vacterl With Hydrocephalus	Microphthalmia, Spina bifida, Anophthalmia	ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Joubert Syndrome 2	Microphthalmia, Encephalocele	OMIM:608091
Focal Dermal Hypoplasia	Umbilical hernia, Microphthalmia, Spina bifida, Hypoplasia of the iris	ORPHA:2092
Mosaic Trisomy 9	Microphthalmia, Spina bifida	ORPHA:99776
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	OMIM:264480
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Remnants of the hyaloid vascular system, Aortic valve stenosis, ...	OMIM:300166
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Spina bifida, Hydranencephaly	ORPHA:2839
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Cohen Syndrome	Microphthalmia	ORPHA:193
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Fryns Syndrome	Microphthalmia	ORPHA:2059
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida	ORPHA:3380
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism	ORPHA:2162
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Cousin Syndrome	Microphthalmia, Hydranencephaly	OMIM:260660
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Marshall-Smith Syndrome	Optic nerve hypoplasia, Hypertension, Premature ventricular contraction, Pulmonary arterial hyper...	OMIM:602535
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Encephalocele	OMIM:616300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Umbilical hernia	ORPHA:2166
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Holt-Oram Syndrome	Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris	ORPHA:564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Spina bifida	ORPHA:508498
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Fanconi Anemia	Umbilical hernia, Microphthalmia, Aplasia/Hypoplasia of the iris, Spina bifida	ORPHA:84
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele	OMIM:610828
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia, Umbilical hernia	ORPHA:534
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris	OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Meckel Syndrome, Type 1	Occipital encephalocele, Microphthalmia, Large placenta, Anencephaly	OMIM:249000
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
22Q11.2 Deletion Syndrome	Umbilical hernia, Meningocele, Microphthalmia, Spina bifida	ORPHA:567
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Norrie Disease	Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Uteri...	ORPHA:649
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Holoprosencephaly 2	Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col...	OMIM:157170
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Small placenta, Hydranencephaly, Spina bifida	OMIM:256520
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia	OMIM:610829
Mend Syndrome	Microphthalmia	ORPHA:401973
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Monosomy 9P	Microphthalmia	ORPHA:261112
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Branchial cyst	OMIM:620186
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Myhre Syndrome	Microphthalmia	OMIM:139210
Cockayne Syndrome	Microphthalmia	ORPHA:191
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Charge Syndrome	Umbilical hernia, Microphthalmia, Anophthalmia	ORPHA:138
Fryns Syndrome	Microphthalmia	OMIM:229850
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia	OMIM:305600
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Roberts Syndrome	Microphthalmia	ORPHA:3103
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia	ORPHA:2052
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Charge Syndrome	Umbilical hernia, Microphthalmia, Unilateral microphthalmos, Anophthalmia	OMIM:214800
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia	OMIM:219000
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly	OMIM:236680
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Branchial cyst, Spina bifida occulta	ORPHA:508488
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia	ORPHA:672
Branchiooculofacial Syndrome	Branchial anomaly, Microphthalmia, Anophthalmia	OMIM:113620
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Roberts-Sc Phocomelia Syndrome	Frontal encephalocele, Microphthalmia	OMIM:268300
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 Pdcd7

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 Pdcd7.

No publications found that use IMPC mice or data for Pdcd7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pdcd7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pdcd7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pdcd7^{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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us