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Gene: Tspan32 MGI:1350360

Gene Summary

Name:

tetraspanin 32

Synonyms:

D7Wsu37e, Tssc6, Tspan32, Art-1, Phemx

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 heart morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Tspan32^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
thick skin	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal stomach morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal pancreas morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Tspan32^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged stomach	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Tspan32^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Tspan32^em1(IMPC)Mbp	HOM	Late adult	2.49×10^-06
abnormal vitreous body morphology	Tspan32^em1(IMPC)Mbp	HOM	Late adult	6.85×10^-07
enlarged spleen	Tspan32^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased mean corpuscular volume	Tspan32^em1(IMPC)Mbp	HOM	Early adult	4.26×10^-07
decreased body length	Tspan32^em1(IMPC)Mbp	HOM	Early adult	7.64×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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Human diseases caused by Tspan32 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 Tspan32 (0 diseases)
Human diseases predicted to be associated with Tspan32 (609 diseases)

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

The table below shows human diseases predicted to be associated to Tspan32 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, Ab...	ORPHA:281090
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Ethanolaminosis	Cardiomegaly	OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Perlman Syndrome	High, narrow palate, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of ...	ORPHA:2849
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Serrated Polyposis Syndrome	Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros...	ORPHA:157798
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
1Q21.1 Microduplication Syndrome	Hypospadias, Gastroesophageal reflux, Tetralogy of Fallot, Cataract, Cryptorchidism	ORPHA:250994
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Anal atresia, Tetralogy of Fall...	ORPHA:1381
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentrati...	OMIM:614876
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Pulmonary valve atresia, Atrioven...	ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Ventricular septal defect, Optic disc pallor, Cataract, Cryptorchid...	OMIM:613730
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Cardiom...	OMIM:222300
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Reticular Dysgenesis	Lack of T cell function, Impaired T cell function	OMIM:267500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Car...	OMIM:269920
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Splenomegaly, Amenorrhea, Dila...	OMIM:602390
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascit...	OMIM:256550
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:79301
Mulibrey Nanism	Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro...	OMIM:253250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Cardiomyopathy, Chronic ...	ORPHA:465508
Laurence-Moon Syndrome	Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Type II di...	ORPHA:2377
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Abnormal cardiac ...	ORPHA:3376
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Ascit...	OMIM:615710
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Meckel Syndrome	Ureteral duplication, Pancreatic fibrosis, Optic atrophy, Accessory spleen, Furrowed tongue, Aspl...	ORPHA:564
Senior-Loken Syndrome	Premature ovarian insufficiency, Nephronophthisis, Abnormality of retinal pigmentation, Congenita...	ORPHA:3156
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, D...	ORPHA:2357
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Adrenal calcification, Hepatic...	ORPHA:75234
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati...	OMIM:616589
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Atrial s...	OMIM:618652
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Zellweger Syndrome	Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Corneal opacity, High p...	ORPHA:912
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pig...	ORPHA:290
Cholesteryl Ester Storage Disease	Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati...	OMIM:278000
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye...	ORPHA:52901
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism, Colitis	ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Premature ovarian insufficiency, Galactosuria,...	OMIM:230400
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cataract, Ambiguous genitalia, Cryptorchidism, Hy...	ORPHA:2772
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Dextrocardia	Situs inversus totalis, Dextrocardia, Webbed neck, Meckel diverticulum, Pancreatic hypoplasia, Ab...	ORPHA:1666
Myotonic Dystrophy 1	Cholelithiasis, Dysphagia, Hypogonadism, Cataract, Testicular atrophy	OMIM:160900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Ery...	OMIM:617021
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Cardi...	ORPHA:93476
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Impotence, Cataract, Diabetes mellitus, Hepatic ...	OMIM:606069
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor...	ORPHA:98870
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hypoplasia of the small intestine, Ascites...	OMIM:200995
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Ke...	OMIM:240300
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Per...	OMIM:201475
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly, Gastroesophageal reflux	ORPHA:3137
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Elevate...	OMIM:613812
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat...	OMIM:602782
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Developmental glauc...	OMIM:610199
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Adrenal ins...	ORPHA:75233
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy	ORPHA:85447
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Galactokinase Deficiency	Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, ...	ORPHA:79237
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf...	OMIM:620609
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphang...	ORPHA:1655
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:79312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology,...	ORPHA:93111
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney	OMIM:218350
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased...	OMIM:618892
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card...	ORPHA:79083
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism, ...	OMIM:618440
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism	ORPHA:363741
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right...	OMIM:306955
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ventricular s...	OMIM:235255
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal ...	ORPHA:264580
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Hypospadias, Labial hypoplasia, Microcornea, Ventricular septal ...	OMIM:147791
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, Testicu...	OMIM:613987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co...	OMIM:613101
Jacobsen Syndrome	Annular pancreas, Webbed neck, Duodenal atresia, Microcornea, Ectopic anus, Ventricular septal de...	ORPHA:2308
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Webbed neck, Ascites, Hypertrophic cardiomyopathy, Cleft palate, Hydronephrosis, Car...	OMIM:616897
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, E...	OMIM:607765
Mogs-Cdg	Optic atrophy, Hepatomegaly, External genital hypoplasia, High palate, Inappropriate antidiuretic...	ORPHA:79330
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum...	OMIM:229850
Lowry-Maclean Syndrome	High, narrow palate, Developmental glaucoma, Atrioventricular canal defect, Hypospadias, Midgut m...	ORPHA:2409
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T...	OMIM:557000
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, High palate, Abnormality of the hyp...	ORPHA:251066
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Ectopic kidney, Esophageal atresia, Pancytopenia, Pelvic kidney, Reticu...	OMIM:227646
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Decreased num...	OMIM:137920
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Hepatomegaly, Intrahepatic cholest...	OMIM:614921
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multicystic kidney dysplasia, Cholestasis, Biliary ...	OMIM:267010
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Renal cortical cysts, Gona...	OMIM:130650
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract...	OMIM:618805
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplicat...	OMIM:608836
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv...	ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Cataract, Retinal degeneration	OMIM:266500
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Abnormal heart morpholog...	ORPHA:1867
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Splenomegaly, Multiple renal c...	ORPHA:116
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv...	OMIM:265380
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico...	OMIM:301111
Feingold Syndrome	Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia	ORPHA:1305
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Developmental cataract, Abdomina...	OMIM:616395
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob...	OMIM:614377
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopathy, Thin skin, Dysmeno...	ORPHA:2348
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Kapur-Toriello Syndrome	Hypoplastic labia majora, Ventricular septal defect, Retinal coloboma, Intestinal malrotation, Cl...	OMIM:244300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma	OMIM:601794
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Astigmatism, Elevated circulating hepatic transaminase concentration, Cardiomyopath...	OMIM:617713
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Panc...	OMIM:617052
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st...	OMIM:612526
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy	OMIM:601163
Juvenile Sialidosis Type 2	Optic atrophy, Hepatomegaly, Corneal opacity, Visceromegaly, Protruding tongue, Abnormal heart mo...	ORPHA:93399
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly...	ORPHA:391428
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux, Thin skin	ORPHA:98892
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Retinal dysplasia, Cleft palate, Multiple renal cysts, Malro...	ORPHA:1190
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hypothyroid...	ORPHA:349
Trisomy 8P	Annular pancreas, Astigmatism, Abnormal left ventricle morphology, Heterochromia iridis, Dysplast...	ORPHA:264450
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestina...	ORPHA:90291
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Polycystic kidney dy...	ORPHA:84064
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes m...	ORPHA:65288
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Cardiomegaly, Congenital hydrocele, Parotitis, Increased B cell c...	OMIM:620376
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Ne...	ORPHA:2169
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric...	ORPHA:779
Hereditary Leiomyomatosis And Renal Cell Cancer	Esophageal neoplasm, Barrett esophagus, Vaginal neoplasm, Uterine leiomyosarcoma, Cataract, Uteri...	ORPHA:523
Distal Deletion 12Q	Annular pancreas, High, narrow palate, Maturity-onset diabetes of the young, Ectopic kidney, Bili...	ORPHA:96149
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi...	ORPHA:456312
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni...	OMIM:616028
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Stromme Syndrome	Accessory spleen, Duodenal atresia, Optic nerve hypoplasia, Microcornea, Intestinal malrotation, ...	OMIM:243605
Hereditary Mucoepithelial Dysplasia	Hematuria, Anorectal anomaly, Corneal dystrophy, Furrowed tongue, Tracheoesophageal fistula, Cata...	ORPHA:1839
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Aceruloplasminemia	Hypochromic microcytic anemia, Abnormal pancreas morphology, Macular degeneration, Elevated hepat...	ORPHA:48818
Feingold Syndrome 1	Annular pancreas, Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Accessory sple...	OMIM:164280
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Macrocephaly/Autism Syndrome	Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Bardet-Biedl Syndrome 1	High, narrow palate, Bone spicule pigmentation of the retina, Astigmatism, Aganglionic megacolon,...	OMIM:209900
Bohring-Opitz Syndrome	Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Vesicour...	OMIM:605039
Chops Syndrome	Optic atrophy, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral...	OMIM:616368
Campomelia, Cumming Type	Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Cleft palate, Multiple renal cysts...	ORPHA:1318
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Polycystic kidney dysplasia, Ventricular septal defect, Intestinal malrotat...	OMIM:263520
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Anteriorly placed anus, Ovotestis, H...	OMIM:309801
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,...	OMIM:269200
Marden-Walker Syndrome	High, narrow palate, Hypospadias, Dextrocardia, High palate, Pyloric stenosis, Renal hypoplasia, ...	OMIM:248700
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Impotence, Increased urinary N-acetylglucosamine-rich oligosa...	OMIM:268800
Metachromatic Leukodystrophy	Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl...	ORPHA:512
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne...	OMIM:612562
Gaucher Disease Type 1	Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Hemat...	ORPHA:77259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, High, narrow palate, Rena...	ORPHA:228308
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Koolen-De Vries Syndrome	Narrow palate, Bicuspid aortic valve, High, narrow palate, Ureteral duplication, Hypospadias, Ves...	ORPHA:96169
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Abnormal pituitary gland mor...	ORPHA:64744
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Steatorrhea, Hepatomegaly, Hypothyroidism, Diabetes mellitus, Exocrine pancreati...	OMIM:616263
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo...	OMIM:301108
Fg Syndrome 3	Pyloric stenosis, Cryptorchidism	OMIM:300406
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Recurrent gastroenteritis, Hepatosplenomegaly, Cataract, Oligosacc...	ORPHA:309288
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria	OMIM:277410
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Oral leukoplakia, Testicular a...	OMIM:618165
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Hypospadias, Gastroesophageal reflux, Patent foramen ovale, Vesi...	OMIM:616975
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Ascites, Right ...	ORPHA:57777
Ulnar-Mammary Syndrome	Delayed puberty, Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Ventricu...	ORPHA:3138
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Secondary amenorrhea, Patent foramen ovale, Ren...	ORPHA:488618
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Tyrosinemia, Type I	Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Global glomerulosclerosis, Hepatic cysts, St...	OMIM:616307
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, High palate, Exocrine panc...	OMIM:617941
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Esophageal stenosis...	ORPHA:1775
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Knobloch Syndrome	Dextrocardia, Retinal detachment, Macular degeneration, Vesicoureteral reflux, Pyloric stenosis, ...	ORPHA:1571
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Hepatic fibrosis, Renal cyst, Polycystic liver disease, Bile duct ...	OMIM:208500
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ...	ORPHA:3386
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse, Catar...	OMIM:247410
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Abnormality of the female genitalia, Hematuria, Gastroesophageal reflux, Abn...	ORPHA:1018
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, High palate, Pyloric stenosis, Precocious puberty, Bifid uv...	ORPHA:96184
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Cor triatriatum, High palate, Hypop...	OMIM:612541
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microcornea, Septo-optic dysplasia, Anal atresia, Vaginal atresia, Cataract, Crypt...	ORPHA:3301
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Mucopolysaccharidosis Type 3	Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsilliti...	ORPHA:581
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Anemia, Cholangitis, Liver absce...	ORPHA:284
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Cornelia De Lange Syndrome 1	Ectopic kidney, Malrotation of colon, Optic atrophy, Astigmatism, Hypospadias, Cleft palate, Redu...	OMIM:122470
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion...	OMIM:614700
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve...	ORPHA:363705
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Histiocytoid Cardiomyopathy	Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Renal cyst, Cleft...	ORPHA:137675
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microcornea, Cleft palate, Cataract, Cryptorchidism, Micropenis, Ectopic ...	OMIM:610125
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Alagille Syndrome 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:118450
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Abnor...	ORPHA:141127
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microcornea, Zonular cataract, High palate, Hypogonadism, Cataract, Cryptorchid...	OMIM:268400
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l...	ORPHA:124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Elevated circulating hepatic transaminase concentra...	ORPHA:14
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Car...	OMIM:608013
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C...	OMIM:619259
Fanconi Anemia	Meckel diverticulum, Tracheoesophageal fistula, Leukopenia, Hypogonadism, Abnormal cardiac septum...	ORPHA:84
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Cutis Laxa, Autosomal Recessive, Type Iiib	Developmental glaucoma, Pyloric stenosis, Thin skin, Cataract, Cryptorchidism	OMIM:614438
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Cleft palate, Elevated circulating follicle stimulatin...	OMIM:305400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
17Q12 Microdeletion Syndrome	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Pancreatic aplasia,...	ORPHA:261265
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Ureteral duplication, Transposition of the great arteries, Anterio...	ORPHA:2255
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Vesicoureteral r...	ORPHA:261494
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, High palate, Ventricular septal defect, Cryptorchidism, Precocious puberty, Cardiom...	ORPHA:96191
Lethal Congenital Contracture Syndrome 10	Narrow palate, High palate, Hypoplasia of the thymus, Ventricular septal defect, Cardiomegaly, Ov...	OMIM:617022
Timothy Syndrome	Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Pancr...	ORPHA:103918
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Abn...	ORPHA:37042
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Elevated circulating hepatic transaminase concentration, Accessory ...	OMIM:620005
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, Hep...	OMIM:277900
Spondyloocular Syndrome	Duodenal ulcer, Posterior subcapsular cataract, Webbed neck, Retinal detachment, Dysplastic aorti...	OMIM:605822
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Koolen-De Vries Syndrome	Narrow palate, Bicuspid aortic valve, Vesicoureteral reflux, High palate, Ventricular septal defe...	OMIM:610443
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cleft palate, Cardiomegaly, Uri...	ORPHA:97297
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Hyperuricosuria, Testicular a...	OMIM:300322
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventricular septal hypertroph...	OMIM:269700
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hypospadias, High palate, Bifid scrotum, Anal atresia, Pyloric stenosi...	OMIM:619148
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, High palate,...	OMIM:620371
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Webbed neck, Ascites, Hypothyroidism, Splen...	OMIM:616843
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Gastroe...	OMIM:620185
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal...	OMIM:270400
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr...	OMIM:105120
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Macroglossia, Hepatomegaly, Cryptorchidism	OMIM:618143
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Intestinal malrotation, Splenomegaly, Cystic renal dysplasia, Abnormal...	OMIM:249000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,...	OMIM:157640
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, ...	ORPHA:464306
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Dyskeratosis Congenita, X-Linked	Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P...	OMIM:305000
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ventricular septal ...	OMIM:269860
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Enlarged kidney, Cardiomegaly, Cardiomyopathy, Ascites, Hypertrophic c...	OMIM:261740
Pancreatic Agenesis 2	Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet...	OMIM:615935
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Pyloric stenosis, Abnormal response to ACT...	OMIM:615577
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Gastroesophageal reflux, Renal artery stenosis, High palate, Renal hypoplasia, Nep...	OMIM:617913
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:308552
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Mednik Syndrome	Cirrhosis, Cholestasis, Microcolon, Volvulus, Cataract, Hepatic fibrosis, Jejunal atresia	OMIM:609313
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiomyopathy, Splenom...	ORPHA:90324
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Glycopeptiduria, Splenomegaly, Cardiomegaly, ...	OMIM:230000
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine...	ORPHA:892
Microphthalmia, Syndromic 3	Hypospadias, Esophageal atresia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Ventricul...	OMIM:206900
22Q11.2 Deletion Syndrome	Corneal neovascularization, Gastrointestinal hemorrhage, Anorectal anomaly, Intestinal malrotatio...	ORPHA:567
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Microphthalmia, Syndromic 2	Atrial septal defect, Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Ventricular sep...	OMIM:300166
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Okamoto Syndrome	Astigmatism, Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Abnormal left ventricl...	ORPHA:2729
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia	OMIM:618838
Williams Syndrome	Hypoplasia of penis, Corneal opacity, Tracheoesophageal fistula, Pulmonic stenosis, Nephrocalcino...	ORPHA:904
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Sple...	OMIM:249100
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Axillary pterygium, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Bardet-Biedl Syndrome	Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Hypoplasia of the o...	ORPHA:110
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, High palate, Decreased serum insulin-like growth factor 1	OMIM:618162
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, M...	OMIM:266920
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno...	OMIM:193300
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, H...	OMIM:256300
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Splenomegaly, Cardiomegaly, Macroglossia	OMIM:232300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate	OMIM:618798
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormality of the endocrine system, Premature thelarche, Aortic valve stenosis, Abnormal heart m...	ORPHA:268261
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Pyloric ...	OMIM:613327
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c...	OMIM:615688
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix...	ORPHA:309854
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Narrow ...	OMIM:300855
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Hypospadias, Anteriorly placed anus, Macroglossia, High ...	ORPHA:798
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Developmental glaucoma, Webbed neck, Patent foramen ovale, Cleft palate, M...	OMIM:245600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aorti...	ORPHA:2072
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Cystinosis, Nephropathic	Recurrent corneal erosions, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, C...	OMIM:219800
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Lymphopenia, Dysplastic...	OMIM:214800
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Accessory spleen, Patent ...	OMIM:613177
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Heterochromia iridis, Microcolon, Splenomegaly, Hypogonadism...	ORPHA:163746
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Corneal scar...	OMIM:263700
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Abnormality of the gallbladder, Hypoplasia of penis, Optic atrophy, Agangli...	ORPHA:818
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Hepatomegaly, Ureteral duplication, Hypospadias, Hydroureter, Hypoplasia of ...	ORPHA:373
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, C...	ORPHA:32960
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy, Impotence	OMIM:105210
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi...	OMIM:618419
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Mucopolysacchariduria, ...	OMIM:252500
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Left ventric...	OMIM:300967
Esophageal Atresia	Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo...	ORPHA:1199
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Meckel diverticulum, Vesicoureteral ...	OMIM:274000
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Hypospadias, Cardiomegaly, Renal artery stenosis, Glos...	ORPHA:3472
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormality of the gastrointes...	ORPHA:1304
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Micropenis	OMIM:263750
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Conjunctival icterus, Primary hypothyroidism, Ascites, Urethrovaginal fistu...	OMIM:243800
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Impotence...	ORPHA:273
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Cleft palate, Developmental cataract, Ankyloglossia	ORPHA:488642
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma...	ORPHA:1572
Frontometaphyseal Dysplasia 2	Delayed puberty, Gastroesophageal reflux, Webbed neck, Neurogenic bladder, Patent foramen ovale, ...	OMIM:617137
Digeorge Syndrome	Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Truncus a...	OMIM:188400
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, ...	ORPHA:77261
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Bicuspid aortic valve, Premature ovarian insufficiency, Hypospadias, Aortic valv...	OMIM:176690
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, L...	ORPHA:2714
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Hypoplasia of penis, Bifid uvula, Cleft palate, Hypogonadism, Catara...	ORPHA:2250
Aicardi-Goutières Syndrome	Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Chronic lymphati...	ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin...	OMIM:256040
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, High palate, Ankyloglossia, Cleft palate, Ovarian cyst, Proteinuria,...	OMIM:311200
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Webbed neck, High palate, Abnormality of the Leydig cells, Cleft pal...	ORPHA:3063
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, ...	ORPHA:857
Tetraamelia Syndrome 1	Absent external genitalia, Hypoplasia of the fallopian tube, Anal atresia, Asplenia, Cleft palate...	OMIM:273395
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre...	ORPHA:83617
Crimean-Congo Hemorrhagic Fever	Hematemesis, Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cho...	ORPHA:99827
Norrie Disease	Optic atrophy, Delayed puberty, Erectile dysfunction, Uterine rupture, Aplasia/Hypoplasia of the ...	ORPHA:649
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Marden-Walker Syndrome	Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hydroureter, Hypospa...	ORPHA:2461
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology...	ORPHA:95430
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Pyloric stenosis, Pericardial effusion, Lymphangioma, S...	ORPHA:2136
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Webbed neck	OMIM:612918
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Stage 5 chronic kidney disease, Pancreatic cysts, Renal c...	OMIM:613159
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Oculopalatocerebral Syndrome	Cleft palate, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Pterygium, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture...	ORPHA:79403
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de...	OMIM:260370
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyel...	ORPHA:77293
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Esophageal atresia, Hypoplasia of penis, Ectopic anus, Renal cyst, Anal atresia, Uterus didelphys...	ORPHA:93271
Mowat-Wilson Syndrome	Atrial septal defect, Aganglionic megacolon, Hypospadias, Microcornea, Bifid scrotum, Ventricular...	OMIM:235730
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Cardiomyopathy	ORPHA:158687
Knobloch Syndrome 1	Iris transillumination defect, Retinal detachment, Band keratopathy, Persistent pupillary membran...	OMIM:267750
Viss Syndrome	Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	ORPHA:365
Pancreatic And Cerebellar Agenesis	Anemia, Optic nerve hypoplasia, Pancreatic hypoplasia, Pancreatic aplasia, Secundum atrial septal...	OMIM:609069
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating hepatic tr...	OMIM:613471
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Cornelia De Lange Syndrome	Delayed puberty, Hypoplasia of penis, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft ...	ORPHA:199
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Cataract, Pericarditis, Keratitis, S...	ORPHA:90340
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Cutis Laxa, Autosomal Recessive, Type Iic	Patent foramen ovale, High palate, Median cleft palate, Bilateral cryptorchidism, Pyloric stenosi...	OMIM:617402
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip...	OMIM:181450
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Aplasia of the epiglottis, Hepatomegaly, Atrioventricular canal defect, Splenom...	OMIM:617088
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Iris atrophy, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifi...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnor...	ORPHA:261537
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cleft palate, Submucous cleft so...	OMIM:603671
Neuroocular Syndrome	Short uvula, Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular s...	OMIM:619539
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnor...	ORPHA:2152
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, High, narrow palate, Cardiomegaly	ORPHA:91387
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Retinal hemorrhage, Adrenal calcifi...	ORPHA:51608
Microphthalmia, Syndromic 1	Rectal prolapse, Ciliary body coloboma, Hydroureter, Hypospadias, Aganglionic megacolon, High, na...	OMIM:309800
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the...	ORPHA:158684
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Dysphagia, Remnants of the hyaloid vascular sy...	ORPHA:637
Branchiooculofacial Syndrome	Hypospadias, Gastroesophageal reflux, Duplication of internal organs, Renal cyst, Retinal colobom...	OMIM:113620
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Holoprosencephaly 2	Anterior pituitary agenesis, Single ventricle, Diabetes insipidus, Bilateral cleft palate, Adrena...	OMIM:157170
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Renal insufficiency, Iron defic...	ORPHA:97214
Knobloch Syndrome 2	Retinal detachment, Pyloric stenosis, Anterior cortical cataract	OMIM:618458
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Spinal cord - MPATH pathological process term hydropic degeneration	Tspan32^em1(IMPC)Mbp	HOM		Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tspan32.

No publications found that use IMPC mice or data for Tspan32.

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MGI Allele	Allele Type	Produced
Tspan32^{tm95787(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tspan32^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tspan32 MGI:1350360

Gene Summary

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Phenotypes

lacZ Expression

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Human diseases caused by Tspan32 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data