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

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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

33 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 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 (601 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	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Cry...	ORPHA:281090
Ethanolaminosis	Cardiomegaly	OMIM:227150
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnorma...	ORPHA:2849
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Gastroesophageal reflux, Tetralogy of Fallot	ORPHA:250994
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Tetra...	ORPHA:1381
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid...	OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ...	ORPHA:2470
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Cat...	OMIM:222300
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ...	OMIM:613313
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C...	OMIM:602390
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T...	ORPHA:858
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, High palate...	OMIM:269920
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro...	OMIM:256550
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig...	OMIM:253250
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Cataract, Congenital hepati...	ORPHA:3156
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Abnormality of ...	ORPHA:3376
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Cataract, Congenital hepatic fibrosis, Cryptorchidism, ...	ORPHA:2377
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Ventricular s...	ORPHA:912
Meckel Syndrome	Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu...	ORPHA:564
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic...	ORPHA:75234
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys...	ORPHA:2357
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Cataract, Corneal opacity, Ventricular septal defect, Abnorma...	ORPHA:290
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ...	OMIM:618652
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar...	ORPHA:2930
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Colitis, Cardiomegaly	ORPHA:88643
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Cataract, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosi...	OMIM:606069
Myotonic Dystrophy 1	Cataract, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy	OMIM:160900
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis	ORPHA:664
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular...	OMIM:617021
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart,...	ORPHA:2772
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Abnormal reproductive system morpholog...	ORPHA:1666
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen...	ORPHA:93476
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, C...	OMIM:201475
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Hemophag...	OMIM:603552
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency...	OMIM:240300
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Cataract, Cardiomegaly, Oligosacchariduria	ORPHA:3137
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Hiatus he...	ORPHA:2538
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Stea...	ORPHA:75233
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Cardiomyopathy,...	ORPHA:79312
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm...	OMIM:613987
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon...	OMIM:557000
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasi...	ORPHA:1655
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto...	OMIM:613101
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Unilateral renal agenesis, Portal...	OMIM:216360
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Jacobsen Syndrome	Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Intestinal malrotation, Crypto...	ORPHA:2308
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperins...	ORPHA:79237
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, ...	OMIM:235255
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Optic atrophy, Microcor...	OMIM:147791
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:93111
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract, Macroglossia,...	OMIM:618440
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Lowry-Maclean Syndrome	Hypospadias, Corneal opacity, Bilateral cryptorchidism, Abnormality of the abdominal organs, Deve...	ORPHA:2409
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl...	ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Atrial septal defect, Ectopic pancreatic tissue, Hypospadias...	OMIM:229850
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Thrombocytopenia, E...	OMIM:227646
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a...	OMIM:618805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ...	OMIM:616897
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma	ORPHA:363741
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate antidiuretic hormo...	ORPHA:79330
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili...	OMIM:267010
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr...	OMIM:175200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Ureteral duplication, Renal insufficiency, Hepatomegaly, Cataract,...	OMIM:608836
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach	OMIM:114500
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Atrophic gastritis, Autoimmun...	OMIM:616100
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron...	OMIM:606003
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Refsum Disease, Classic	Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Retinal degeneration	OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Hypothyro...	ORPHA:116
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Abnormal heart morphology...	ORPHA:1867
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morp...	ORPHA:48818
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Cataract, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, D...	OMIM:616395
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Spl...	ORPHA:91138
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardio...	OMIM:130650
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Hypopl...	OMIM:244300
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney d...	OMIM:614377
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Atrophic gastritis, Pure red ...	ORPHA:436159
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Hepatosplenomegaly, Ab...	ORPHA:93399
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, As...	OMIM:617713
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c...	OMIM:615895
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Thin skin, Gastroesophageal reflux	ORPHA:98892
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hsd10 Disease, Infantile Type	Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy...	ORPHA:391428
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr...	ORPHA:449432
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Hematochezia, Pigmentary retinopat...	ORPHA:79095
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Malrotation of small bowel, Annular pancrea...	ORPHA:264450
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma	OMIM:601794
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Keratoconjunctivitis sicc...	ORPHA:779
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo...	ORPHA:84064
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Increased mean corpuscular volume, Ne...	ORPHA:2169
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Multiple renal cysts, Retinal dysplasia, Abnormal pancreatic ...	ORPHA:1190
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal mal...	OMIM:243605
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduri...	ORPHA:349
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate	ORPHA:314575
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, High palate, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hyp...	OMIM:614866
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertro...	OMIM:616028
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p...	ORPHA:65288
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardi...	ORPHA:85451
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad...	OMIM:613673
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le...	ORPHA:523
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence	OMIM:268800
Bohring-Opitz Syndrome	Atrial septal defect, Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, ...	OMIM:605039
Chops Syndrome	Cataract, Ventricular septal defect, Cryptorchidism, Splenomegaly, High, narrow palate, Optic atr...	OMIM:616368
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasi...	OMIM:248700
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ...	ORPHA:1318
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intest...	OMIM:263520
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Cataract, Aganglionic megacolon, Neph...	OMIM:209900
Diamond-Blackfan Anemia 7	Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter...	OMIM:612562
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia	OMIM:605309
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Atrial septal defect, Ventricular sep...	ORPHA:488618
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Koolen-De Vries Syndrome	Ureteral duplication, Cataract, Hypospadias, Bicuspid aortic valve, Cryptorchidism, High, narrow ...	ORPHA:96169
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduri...	ORPHA:309288
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ...	OMIM:618165
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis...	ORPHA:342
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Clef...	OMIM:309801
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Cataract, Esophageal stenosis, Abnorma...	ORPHA:1775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Cryptorchidism, Optic atrophy, Renal cyst, Furrowed tongu...	OMIM:616975
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Gastroin...	OMIM:276700
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Fg Syndrome 3	Cryptorchidism, Pyloric stenosis	OMIM:300406
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di...	ORPHA:730
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm...	ORPHA:2969
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Heparan sulfate excretion in urine, Splenom...	ORPHA:581
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi...	ORPHA:3138
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Splenomegal...	ORPHA:809
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ...	OMIM:617941
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros...	OMIM:616263
Senior-Loken Syndrome 8	Global glomerulosclerosis, Hepatic cysts, Macular atrophy, Pancreatic cysts, Stage 5 chronic kidn...	OMIM:616307
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Cryp...	OMIM:612541
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola...	OMIM:247410
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Cirrhosis, L...	ORPHA:57777
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Mic...	ORPHA:3301
Knobloch Syndrome	Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Macular degeneratio...	ORPHA:1571
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ...	ORPHA:79240
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, Microcornea, High palate, Gastroesophageal reflu...	OMIM:122470
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Atrial septal def...	OMIM:118450
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Macular atrophy, Microvesicular hepati...	OMIM:619418
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly...	OMIM:277900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Proteinuria, Vaginal neoplasm, Esophageal stenosis, Hypoperistalsis, Keratitis, Esophag...	ORPHA:1018
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal pericar...	ORPHA:284
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen...	ORPHA:124
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Abnormality of the ureter,...	ORPHA:141127
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micr...	OMIM:610125
Muir-Torre Syndrome	Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A...	ORPHA:587
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst...	ORPHA:137675
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro...	OMIM:614700
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Dysphagia, Hepatosplenomegaly, Hepati...	OMIM:608013
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Rothmund-Thomson Syndrome, Type 2	Cataract, Cryptorchidism, Microcornea, Anteriorly placed anus, Hypogonadism, High palate, Annular...	OMIM:268400
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo...	OMIM:222470
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation...	ORPHA:14
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p...	OMIM:305400
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atrial septal defec...	ORPHA:84
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Pyloric stenosis, Cryptorchidism, Developmental glaucoma, Thin skin	OMIM:614438
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Neonatal insulin...	ORPHA:2255
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Psori...	ORPHA:37042
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit...	ORPHA:261265
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Supernumerary nippl...	ORPHA:261494
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Dysphagia, Testicular a...	OMIM:300322
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Optic atrophy, Cleft palate, Abnormal cardiac septum morphology, U...	ORPHA:97297
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper...	OMIM:620005
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Anterior...	OMIM:619148
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st...	OMIM:230800
Spondyloocular Syndrome	Retinal detachment, Cataract, Unilateral cryptorchidism, Duodenal ulcer, Posterior subcapsular ca...	OMIM:605822
Koolen-De Vries Syndrome	Atrial septal defect, Cataract, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism,...	OMIM:610443
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Webbed neck, Atrial septal defect, Intes...	OMIM:616843
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent...	OMIM:620185
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated...	OMIM:249000
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Tortuosity of ...	OMIM:230000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ...	OMIM:270400
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Developmental And Epileptic Encephalopathy 95	Macroglossia, Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se...	OMIM:157640
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High pa...	OMIM:617913
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Corneal...	ORPHA:464306
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag...	OMIM:249100
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal...	OMIM:269860
Mednik Syndrome	Cataract, Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon	OMIM:609313
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis	OMIM:615503
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Diabetes mellitus, Hypoplastic tricuspid valve, Double ...	OMIM:600001
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt...	OMIM:305000
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Mitral valve calcification, Corneal opacity, Splenomegaly, Abnormality...	ORPHA:2072
Pancreatic Agenesis 2	Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in...	OMIM:615935
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesophageal reflux, ...	ORPHA:567
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Gastroesophageal reflux, Retinal degeneration, Hepatomegaly, Retinal at...	ORPHA:90324
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia	OMIM:232300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Nephrocalcinosis, Gast...	ORPHA:904
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypog...	OMIM:206900
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Urinary incontinence,...	ORPHA:2729
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cataract, Cholangitis, Pancreatic cysts, Congenital hepatic f...	OMIM:266920
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser...	OMIM:608594
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia	OMIM:226730
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Elevated urinary catecholamine level, ...	ORPHA:892
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Decreased serum insulin-like growth factor 1, Annular pancreas, High palate	OMIM:618162
Microphthalmia, Syndromic 2	Retinal detachment, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Remnant...	OMIM:300166
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Normocytic anemia, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Lymphade...	ORPHA:32960
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal hypoplasia, Bicornuat...	OMIM:137920
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema...	OMIM:193300
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc...	OMIM:105650
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Pyloric stenosis, Ileus, Hyperinsuline...	OMIM:613327
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly	OMIM:105210
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Behçet Disease	Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Pericarditis, Malabsorption, Orchitis...	ORPHA:117
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus...	OMIM:613177
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Pericarditis, Liver abscess, Glomerulone...	ORPHA:1304
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Myeloid leukemia, Aganglionic megacolon, Abnormality of the ureter, Ne...	ORPHA:798
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepat...	OMIM:243800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Cleft palate, ...	OMIM:245600
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri...	OMIM:214800
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Gastroesophageal reflux, Atrial septal defect, Atrioventricula...	ORPHA:818
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi...	OMIM:609049
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Increased fe...	OMIM:263700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Atrial septal defect, Cataract, Corneal opacity, Eosinophilia, Ventricular ...	OMIM:274000
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Heterochromia iridis, Mic...	ORPHA:163746
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo...	OMIM:618419
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Macroglossia, Mucopolysacc...	OMIM:252500
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis	OMIM:263750
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Yunis-Varon Syndrome	Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Cardiomegaly, Cryptorchidism, Hig...	ORPHA:3472
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Abnormal external genitalia, Maternal diabetes, Int...	ORPHA:1199
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Ankyloglossia, Cleft palate, Developmental cataract	ORPHA:488642
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Abnormal heart valve morphol...	ORPHA:77261
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig...	ORPHA:3063
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Pyloric stenosis, Cleft palate, Webbed...	OMIM:617137
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis,...	ORPHA:2136
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Digeorge Syndrome	Sclerocornea, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytope...	ORPHA:51
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Cleft palate, Ur...	OMIM:273395
Crimean-Congo Hemorrhagic Fever	Leukopenia, Conjunctivitis, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leuk...	ORPHA:99827
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl...	ORPHA:83617
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Throm...	OMIM:256040
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong...	OMIM:311200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, High palate, Cardiomegaly	ORPHA:2463
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Hy...	OMIM:603671
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Webbed neck	OMIM:612918
Norrie Disease	Retinal detachment, Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Sclerocor...	ORPHA:649
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Ventricular se...	ORPHA:2461
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc...	ORPHA:79403
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Nephronophthisis-Like Nephropathy 1	Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy...	OMIM:613159
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto...	ORPHA:77293
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:365
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cleft palate, Cardiomegaly	ORPHA:158687
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosi...	ORPHA:93271
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Mowat-Wilson Syndrome	Bifid scrotum, Cataract, Hypospadias, Ventricular septal defect, Supernumerary nipple, Aganglioni...	OMIM:235730
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Pyloric stenosis, Developmental cataract...	OMIM:267750
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic hypoplasia, ...	OMIM:609069
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	OMIM:613471
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Blau Syndrome	Pericarditis, Cataract, Keratitis, Splenomegaly, Xerostomia, Stage 5 chronic kidney disease, Lymp...	ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Cornelia De Lange Syndrome	Hypoplasia of penis, Microcornea, High palate, Abnormality of the uterus, Gastroesophageal reflux...	ORPHA:199
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Cutis Laxa, Autosomal Recessive, Type Iic	Bilateral cryptorchidism, Pyloric stenosis, Mitral valve prolapse, Nephrocalcinosis, Biventricula...	OMIM:617402
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Abnormal...	ORPHA:261552
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Atriov...	OMIM:617088
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Vesicour...	ORPHA:261537
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly	ORPHA:91387
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Short uvula, Lens coloboma, ...	OMIM:619539
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Gastroin...	ORPHA:2152
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Adrenal calcification, Cardiomegaly, Pericardial effu...	ORPHA:51608
Autosomal Recessive Cutis Laxa Type 1	Cataract, Pyloric stenosis, Dilatation of the ventricular cavity, Pyelonephritis, Urethral divert...	ORPHA:90349
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Bicuspid aortic valve, Aganglionic megacolon, Cryptorchidism, High, nar...	OMIM:309800
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron...	ORPHA:158684
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Dysphagia, Cortical cata...	ORPHA:637
Branchiooculofacial Syndrome	Cataract, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric stenos...	OMIM:113620
Holoprosencephaly 2	Median cleft lip and palate, Remnants of the hyaloid vascular system, Adrenal hypoplasia, Submuco...	OMIM:157170
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Eisenmenger Syndrome	Iron deficiency anemia, Renal insufficiency, Increased mean corpuscular volume, Hypochromic micro...	ORPHA:97214
Knobloch Syndrome 2	Retinal detachment, Pyloric stenosis, Anterior cortical cataract	OMIM:618458
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	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 20.1 Data