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Gene: Chst2 MGI:1891160

Gene Summary

Name:

carbohydrate sulfotransferase 2

Synonyms:

C130041E03Rik, N-acetylglucosamine-6-O-sulfotransferase, GST-2, Gn6st

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 liver	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal thymus morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased startle reflex	Chst2^em1(IMPC)Mbp	HOM	Early adult	1.81×10^-05
decreased grip strength	Chst2^em1(IMPC)Mbp	HOM	Late adult	8.27×10^-05
abnormal skin morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating aspartate transaminase level	Chst2^em1(IMPC)Mbp	HOM	Late adult	1.27×10^-05
abnormal kidney morphology	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged thymus	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Chst2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
hydrometra	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Chst2^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Chst2^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

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Histopathology

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X-ray

XRay Images Whole Body Lateral Orientation

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Histopathology

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Human diseases caused by Chst2 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 Chst2 (0 diseases)
Human diseases predicted to be associated with Chst2 (1232 diseases)

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

The table below shows human diseases predicted to be associated to Chst2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic tra...	ORPHA:858
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Kerion Celsi	Lymphadenopathy	ORPHA:499
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Dystonia	ORPHA:139406
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic r...	OMIM:613730
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia,...	ORPHA:290
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uter...	OMIM:615524
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, L...	OMIM:614034
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Cog7-Cdg	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circula...	ORPHA:79333
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Glut1 Deficiency Syndrome 2	Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Galactosemia Iv	Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly	OMIM:618881
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ...	ORPHA:158061
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei...	OMIM:619644
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma,...	ORPHA:465508
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Hypocalcemia, Hypoprote...	ORPHA:1655
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat...	OMIM:612526
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, H...	OMIM:232400
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal...	ORPHA:79312
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Hyperalaninemia, Elevated circulating alanine aminotransfe...	OMIM:619048
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc...	OMIM:267700
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnit...	OMIM:201475
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H...	OMIM:615895
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:42
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu...	OMIM:613673
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Hypercalcemia, Thrombocytopenia, Renal...	ORPHA:2123
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Microphthalmia	ORPHA:3469
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc...	ORPHA:457077
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Elevated transferrin saturation, Increased circu...	OMIM:606069
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega...	OMIM:230400
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki...	OMIM:601186
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,...	OMIM:619802
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Left atrial enlargement, Cirrhosis...	ORPHA:57777
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal...	ORPHA:2924
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremia, Bone ma...	ORPHA:549
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:160
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Rhabdoid Tumor	Hematuria, Lymphadenopathy, Anemia, Hypercalcemia, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con...	OMIM:300842
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Elevat...	OMIM:617872
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Hyperlipidemia, Cardiomyopathy...	ORPHA:228308
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:235555
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentr...	OMIM:620609
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Trisomy 13	Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormal...	ORPHA:3378
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:613155
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Cardiomyopathy, Splenomegaly, Hyper...	OMIM:619046
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated c...	OMIM:615673
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Nanophthalmos	Microphthalmia	ORPHA:35612
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Microphthalmia, Membranous subvalvular aortic stenosis,...	ORPHA:3191
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Propionic Acidemia	Hyperammonemia, Cardiomyopathy, Hepatomegaly, Organic aciduria	ORPHA:35
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Bicuspid aortic valve, Hors...	OMIM:619318
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy, Aniridia	ORPHA:654
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog...	ORPHA:79237
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Scrub Typhus	Lymphadenopathy, Tremor, Renal insufficiency, Splenomegaly	ORPHA:83317
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp...	OMIM:616050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Ventricular septal defect, Renal...	OMIM:618494
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp...	OMIM:618641
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Refsum Disease	Cardiomyopathy, Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Cirrhosis, Hematuria, Hepatomegaly, Cholelithiasis, Panc...	ORPHA:77259
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, S...	OMIM:608776
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Hepatomegaly, Abnormal aortic valve morphology, Hypospadias, Hypertr...	ORPHA:1194
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Card...	OMIM:614702
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated c...	OMIM:617713
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Pa...	OMIM:609053
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hepatic trans...	ORPHA:781
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Poly...	ORPHA:2348
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Hydronephrosis...	OMIM:613496
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites, Ventricular se...	OMIM:235255
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Elevated circulating creatine ...	OMIM:619424
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglob...	ORPHA:228305
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy	OMIM:613153
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia...	ORPHA:27
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc...	ORPHA:528
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho...	OMIM:611881
Nanophthalmos 4	Microphthalmia	OMIM:615972
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasi...	ORPHA:3376
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Ureteral duplication, Accessory spleen, Anophthalmia, Pan...	ORPHA:564
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hypokalemia, Polycystic kidney dysp...	OMIM:613095
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Aicardi-Goutieres Syndrome 9	Hepatic steatosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration,...	OMIM:619487
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Ves...	OMIM:603467
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypoalbuminemia, Hep...	OMIM:602579
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hypoparathyr...	ORPHA:231226
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Truncus arter...	ORPHA:2538
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Abnormal heart morphology, Ve...	ORPHA:494344
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatomegaly, Hypochro...	ORPHA:231214
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hyperalaninemia, Hypertrophic cardiomyopathy, Elevated circul...	OMIM:614582
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d...	ORPHA:480520
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce...	ORPHA:50918
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly, ...	OMIM:608013
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentra...	OMIM:620005
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:309854
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ...	OMIM:610199
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Leukopenia, Congenital hepatic fibrosis,...	ORPHA:974
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:600901
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Trichohepatoenteric Syndrome 1	Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Jaundice, Hypospadias, I...	OMIM:222470
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Atrial septal de...	ORPHA:84064
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Cholestasis, Nephrotic syndrome, Abnormal hea...	ORPHA:85445
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hyperammonemia, Hydronep...	OMIM:620454
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria	OMIM:120433
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Ventricular septal defec...	OMIM:227645
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Splenomegaly, C...	OMIM:618440
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis	OMIM:243310
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227650
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocy...	OMIM:227646
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Ascites, Nephrotic syndrome, Pericardial effusion, Nephritis, Leukope...	ORPHA:93552
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Ventricular septal defect, Bicornuate uterus, Re...	OMIM:264480
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ...	ORPHA:470
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal physiology, Card...	OMIM:266500
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventricular septal hypertrop...	OMIM:269700
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Lissencephaly 8	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Crypto...	ORPHA:77298
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:168558
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati...	ORPHA:435660
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hyp...	OMIM:617914
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Hypertrophic ...	ORPHA:391428
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:308552
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Cardiomyopathy, Hyperammonem...	OMIM:251000
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:289548
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concent...	ORPHA:1304
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath...	OMIM:230500
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Polycys...	OMIM:249000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Abnormal salivary gland morp...	ORPHA:85443
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Microphthalmia, Cryptorchidism, Abnormal heart morphology	ORPHA:404440
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Ventricular septal defect, Hypoplasia of the iris, Hydronephrosis,...	OMIM:613001
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic...	OMIM:608594
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmon...	OMIM:115470
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho...	OMIM:239200
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Liver Failure, Infantile, Transient	Dicarboxylic aciduria, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circula...	OMIM:613070
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos...	OMIM:619573
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic ...	ORPHA:2328
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, H...	ORPHA:168569
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Atrial septal defect, C...	ORPHA:2728
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:14
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Cryptorchidism, Abnormal heart morphology, Ventri...	ORPHA:369891
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven...	OMIM:212138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Microphthalmia, Con...	OMIM:241410
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Ascit...	OMIM:226300
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Micropenis, Hypo...	OMIM:244300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Red...	ORPHA:60
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphadenopa...	ORPHA:39812
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia, Anemia, Bone marrow hypocellularity	OMIM:617244
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase conc...	ORPHA:370959
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Mitral valve prolaps...	ORPHA:251066
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate...	OMIM:613280
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Abnor...	ORPHA:538
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:435651
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Polycystic ovaries, V...	ORPHA:137675
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abnormal cardiac ...	ORPHA:3320
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ...	OMIM:146255
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	ORPHA:1473
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Elevated circulating hepatic transaminase concentration, Microcytic anemia	OMIM:612379
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma	OMIM:618914
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Decreased num...	OMIM:137920
Sitosterolemia 1	Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi...	OMIM:210250
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic aciduria, Methylmalonic ...	OMIM:251110
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Tetralogy ...	ORPHA:2059
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Abnormally large globe, Primum atrial s...	ORPHA:2729
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci...	ORPHA:186
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ...	OMIM:277900
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Pagod Syndrome	Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of ...	ORPHA:991
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Hydronephrosis, Atrial septal defect, Ventricu...	OMIM:616449
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Acute myeloid leukemi...	OMIM:610832
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, E...	OMIM:614105
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Fanconi Anemia	Microphthalmia, Leukopenia, Hypogonadism, Abnormal cardiac septum morphology, Hypospadias, Azoosp...	ORPHA:84
22Q11.2 Deletion Syndrome	Microphthalmia, Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadias, Hypocalcemia,...	ORPHA:567
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Ascites, Lymphadenitis, Splenomegaly, Impaired oxid...	OMIM:306400
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalci...	ORPHA:2088
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clit...	OMIM:147791
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:26793
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Tetraamelia Syndrome 1	Microphthalmia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Urethral atresia, Ad...	OMIM:273395
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Pulmonic stenosis, Left ve...	OMIM:619148
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia	OMIM:618804
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Ventricul...	ORPHA:1692
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Pat...	ORPHA:488618
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Ventricular septal d...	ORPHA:2162
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Elevated circulating hepatic transa...	OMIM:214950
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98907
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly	OMIM:612852
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Lymphadenop...	ORPHA:635
Walker-Warburg Syndrome	Microphthalmia, Abnormal circulating creatine kinase concentration, Anophthalmia, Hypoplasia of p...	ORPHA:899
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosi...	ORPHA:2510
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone ...	OMIM:614083
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect, Supernumerary nipple	OMIM:612530
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Atria...	ORPHA:464738
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepati...	ORPHA:90324
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chorde...	OMIM:309801
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Aplasia of th...	OMIM:274000
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenita...	OMIM:619488
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Elevated c...	OMIM:615486
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophil...	ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Elevated circulating c...	OMIM:253800
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid ...	OMIM:222700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Hypertrophic cardiomyopathy, Hep...	OMIM:615846
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Microp...	OMIM:617925
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti...	OMIM:200995
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Pancytopenia, Splenic infarcti...	ORPHA:355
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unc...	OMIM:620186
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Elevated circulating hepatic transaminase c...	ORPHA:99826
Argininemia	Hepatomegaly, Oroticaciduria, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis...	OMIM:207800
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi...	OMIM:120330
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ...	ORPHA:449432
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Hepatosplenomegaly, Urinary glycosaminoglycan e...	ORPHA:79255
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Hydronephrosis, Cryptorchidism, Abnormal cardiac septum mo...	ORPHA:250989
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia, Atr...	ORPHA:1052
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613471
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect, Renal cyst	OMIM:614424
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating...	OMIM:202010
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Cohen Syndrome	Microphthalmia, Ventricular septal defect, Mitral valve prolapse, Cryptorchidism, Neutropenia	ORPHA:193
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, ...	OMIM:616026
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Abnormal...	ORPHA:2556
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Splenomegaly, Proteinu...	OMIM:133540
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	ORPHA:508498
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto...	ORPHA:2166
Charge Syndrome	Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decreased response to...	OMIM:214800
Stiff-Person Syndrome	Anemia, Opisthotonus, Exaggerated startle response	OMIM:184850
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Tremor, Exaggerated startle response	OMIM:620327
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Trisomy 18	Microphthalmia, Cryptorchidism, Hydronephrosis, Atrial septal defect, Ventricular septal defect, ...	ORPHA:3380
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis, Horseshoe kidney, Hypospadias	ORPHA:65286
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Exaggerated startle response	OMIM:608800
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ...	ORPHA:861
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Bicuspid aortic valve, Cardiomegaly, Perimembranous ven...	OMIM:300855
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Mitral valve prolapse, Macroorchidism	OMIM:618874
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu...	OMIM:619381
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Nep...	OMIM:617913
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, C...	OMIM:607323
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Hypercalciuria, Biliary cirrhosis, Hepatosplenomegaly, Exo...	OMIM:219700
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Monosomy 18P	Microphthalmia	ORPHA:1598
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Hydronephrosis, Acute hepatic failure, Ventricular septal...	ORPHA:2092
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Orchitis, Splenomegaly, Abnormal myoca...	ORPHA:117
Cherubism	Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Cystinosis, Nephropathic	Generalized aminoaciduria, Hypophosphatemia, Splenomegaly, Stage 5 chronic kidney disease, Reduce...	OMIM:219800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Ventr...	OMIM:616975
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Hepatomegaly, Unilateral renal agenesis, Elevated circulati...	ORPHA:191
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochromic anemia, Hypokalemi...	ORPHA:97282
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Abnormal heart morphology	OMIM:184705
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Temtamy Syndrome	Microphthalmia	OMIM:218340
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia	OMIM:300952
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	ORPHA:98908
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Pa...	OMIM:263650
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, El...	ORPHA:365
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatomegaly, Hypoch...	ORPHA:97283
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-cholestenol, Cryp...	ORPHA:401973
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Ventricular septal defect, Precocious puber...	OMIM:194190
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Microphthalmia	ORPHA:251014
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Townes-Brocks Syndrome	Microphthalmia, Hypospadias, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Rec...	ORPHA:857
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Microphthalmia, Hypoplasia of the uterus	OMIM:110100
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactive...	ORPHA:449563
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Truncus arteriosus, Hypoplasia o...	OMIM:188400
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Ren...	OMIM:219000
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic...	OMIM:608091
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Hyp...	ORPHA:508
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe...	OMIM:272950
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Lingual thyroid	OMIM:606519
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho...	ORPHA:97297
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Anterior hypopituitarism, Anophthalmia, Labial ...	ORPHA:138
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Ventricular septal defect, Pulmonic sten...	OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Atelis Syndrome 2	Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Elevated circulating...	OMIM:236670
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma	OMIM:109400
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
Meckel Syndrome 12	Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia	OMIM:616258
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Nephrocalcinosis, Hypophosphatemia, Multiple renal cysts, Hyperparathyroidism, Az...	ORPHA:534
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ...	ORPHA:744
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal...	ORPHA:90340
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous return, Clitoral hyp...	OMIM:609945
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis, Elevated 8-dehydrocholesterol	OMIM:302960
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Transient hypophosphatemia, Anemia, Hypocalcemia, Hyperphosph...	OMIM:127000
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Monosomy 9Q22.3	Cardiac fibroma, Ovarian fibroma, Microphthalmia	ORPHA:77301
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Glycogen Storage Disease Ic	Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemi...	OMIM:232240
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Tetralogy of Fallot, Bladder divert...	ORPHA:959
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Ventricular septal de...	OMIM:613884
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Microphthalmia, Hypoplastic nipples, Absent nipple, Abnormal heart morphol...	OMIM:612289
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal h...	OMIM:309500
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Tay-Sachs Disease	Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response	ORPHA:845
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect, Ectopic kidney	ORPHA:268249
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast...	OMIM:603457
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response, Lacticaciduria	OMIM:620451
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:614643
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Myhre Syndrome	Microphthalmia, Ventricular septal defect, Aortic valve stenosis, Pericardial effusion, Atrial se...	OMIM:139210
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoproteinemia, Hypoplasia of the iris, Nephroti...	OMIM:609049
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Microphthalmia, Renal insufficiency, Elevated c...	OMIM:309000
African Trypanosomiasis	Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Abnormal prolactin le...	ORPHA:3385
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Lymphedema-Distichiasis Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:153400
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Decreased...	ORPHA:93325
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261537
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Fraser Syndrome	Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor...	ORPHA:2052
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Ven...	OMIM:107480
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid ...	OMIM:256520
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Thrombocytopenia, Exaggerated startle response	OMIM:620423
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Microphthalmia	OMIM:164200
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphos...	ORPHA:51608
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Limb-Mammary Syndrome	Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:2152
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Ventricula...	OMIM:135900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Unilateral renal agenesis, Pelvic kidney...	ORPHA:508488
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261552
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Optic nerve hypo...	ORPHA:468631
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia	ORPHA:1106
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Ventricular septal defect, Pulmonic stenosis, Abnorma...	OMIM:235730
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism, Abnormal heart morph...	OMIM:154500
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Ectopic th...	OMIM:113620
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Ventricular septal defect, Clitoral hypo...	OMIM:261540
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Bicuspid p...	ORPHA:709
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Abnormal heart valve morphology, Renovascular hyperten...	ORPHA:286
Holoprosencephaly 1	Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Cryptorchidism, Uterine r...	ORPHA:649
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Renal hypoplasia, Sm...	OMIM:607932
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Uni...	OMIM:613406
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag...	OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce...	OMIM:253280
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Hydronephrosis, Dys...	ORPHA:438213
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s...	OMIM:601803
Neuroocular Syndrome	Patent foramen ovale, Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Elevated circulating creatine kinase concentration, Hemolytic anemia, Hypoplasia ...	OMIM:175780
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Single ventricle	OMIM:157170
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Microphthalmia, Syndromic 1	Microphthalmia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia, Bicuspid aortic valve, ...	OMIM:309800
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Spleen - MPATH pathological process term hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult
Uterus - MPATH pathological process term inflammation	Chst2^em1(IMPC)Mbp	HOM	Late adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult
Lymph node - MPATH pathological process term hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological entity term splenic marginal zone lymphoma	Chst2^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological entity term histiocytic sarcoma	Chst2^em1(IMPC)Mbp	HOM	Early adult
Lymph node - MPATH pathological entity term histiocytic sarcoma	Chst2^em1(IMPC)Mbp	HOM	Early adult
Ear - MPATH pathological entity term lymphoid hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult
Uterus - MPATH pathological process term hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Late adult
Spleen - MPATH pathological entity term lymphoid hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult
Ear - MPATH pathological process term hyperplasia	Chst2^em1(IMPC)Mbp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chst2.

No publications found that use IMPC mice or data for Chst2.

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

MGI Allele	Allele Type	Produced
Chst2^{tm466508(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Chst2^em1(IMPC)Mbp	Whole-gene 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: Chst2 MGI:1891160

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Human diseases caused by Chst2 mutations

Histopathology

IMPC related publications

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