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Gene: Akap13 MGI:2676556

Gene Summary

Name:

A kinase anchor protein 13

Synonyms:

1700026G02Rik, 5830460E08Rik, Ht31, PROTO-LBC, 5730522G15Rik, AKAP-Lbc, PROTO-LB

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 lymph nodes	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	1.98×10^-06
abnormal gallbladder morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged gallbladder	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	2.06×10^-07
improved glucose tolerance	Akap13^em1(IMPC)Mbp	HOM	Early adult	3.75×10^-05
abnormal lymph node morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Akap13^em1(IMPC)Mbp	HOM	Early adult	2.08×10^-07
abnormal skin morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Akap13^em1(IMPC)Mbp	HOM	Early 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

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Akap13 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 Akap13 (0 diseases)
Human diseases predicted to be associated with Akap13 (1340 diseases)

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

The table below shows human diseases predicted to be associated to Akap13 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos...	OMIM:618982
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Ethanolaminosis	Cardiomegaly	OMIM:227150
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly	ORPHA:2432
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T...	ORPHA:858
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,...	OMIM:301082
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati...	ORPHA:79095
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles...	ORPHA:69663
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabet...	ORPHA:231222
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia	OMIM:300752
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b...	ORPHA:438274
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Cataract, Hepatomegaly	ORPHA:79238
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi...	ORPHA:60041
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Cantu Syndrome	Bicuspid aortic valve, Short neck, Pericardial effusion, Cardiomegaly, Lymphedema, Patent ductus ...	OMIM:239850
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P...	ORPHA:2414
Combined Saposin Deficiency	Splenomegaly, Optic atrophy, Hepatomegaly	OMIM:611721
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Hemophag...	OMIM:603552
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Short neck, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septu...	OMIM:608776
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Cataract, Asplenia, Keratoconjunctivitis, Pigmentar...	OMIM:240300
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Enlarged kidney	OMIM:613885
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscu...	OMIM:115197
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin...	OMIM:251270
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret...	ORPHA:179
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Sandhoff Disease	Splenomegaly, Cherry red spot of the macula, Hepatomegaly	ORPHA:796
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ...	ORPHA:891
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Retinitis Pigmentosa 89	Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Hyperautofluoresc...	OMIM:618955
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,...	OMIM:613027
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Cryptorchidism, Microphthalmia	OMIM:613730
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card...	OMIM:614096
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hemolytic anemia	OMIM:177000
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo...	OMIM:613101
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Mirage Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Anemia, Leukopenia, Hypoplastic spleen, Lymphopen...	OMIM:617053
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A...	OMIM:204000
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrh...	OMIM:606069
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati...	ORPHA:169160
Myotonic Dystrophy 1	Cholelithiasis, Cataract, Testicular atrophy	OMIM:160900
Cimdag Syndrome	Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Developmental cataract, Cholel...	OMIM:619273
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Abnormal macular morphology...	OMIM:607616
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr...	OMIM:618805
Pancreatic Colipase Deficiency	Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells...	ORPHA:276
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri...	OMIM:252011
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly	OMIM:261750
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract	ORPHA:324416
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Decreased liver function, Cholestasis	ORPHA:570422
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Gombo Syndrome	Microphthalmia	OMIM:233270
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Senior-Loken Syndrome	Congenital hepatic fibrosis, Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	ORPHA:363741
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv...	OMIM:614034
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic...	OMIM:615630
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Cofs Syndrome	Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation	ORPHA:1466
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept...	OMIM:618052
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pl...	ORPHA:36412
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Webbed neck, Arthrogryposis multiplex congenita, Pleural effusion, C...	OMIM:617822
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab...	ORPHA:521219
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s...	OMIM:618775
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Abnormality of the liver, Cataract, Rod-cone dystrophy	OMIM:614307
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy	ORPHA:300751
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Splenomegaly, Ascites, Abnormal macular morphology	ORPHA:87876
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Hydrops fetalis, Myocardial fibrosis, Growth delay, Pe...	OMIM:253250
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal...	ORPHA:54251
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Nephroblastoma	Aniridia, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Edema, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertoni...	OMIM:619487
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Growth delay, Delayed puberty, Abn...	ORPHA:77259
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Facial edema, Splenomegaly, H...	OMIM:256550
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hypoglycemia, Hepatomegaly	OMIM:306000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy	OMIM:617772
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Conjunctivitis, Choleli...	OMIM:263700
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod...	OMIM:300755
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd...	OMIM:235510
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma, Absent gallbladder	OMIM:184705
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis, Ascites	ORPHA:615
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Splenomegaly, Microphthalmia, Retinopathy	ORPHA:773
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske...	OMIM:300280
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Mevalonic Aciduria	Splenomegaly, Cataract	ORPHA:29
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Cerebrotendinous Xanthomatosis	Cholelithiasis, Cataract, Optic disc pallor	OMIM:213700
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Gluco...	OMIM:235200
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Hepatomegaly, Ventricular septal defect, Pericardial effusion, D...	ORPHA:26793
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology	ORPHA:1617
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure	OMIM:614886
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased...	ORPHA:83313
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormal retina...	ORPHA:33276
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Warburg Micro Syndrome 1	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:600118
Galactokinase Deficiency	Hepatomegaly, Cataract, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Nuclear cataract	ORPHA:79237
Roifman Syndrome	Hepatomegaly, Retinal dystrophy, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ...	ORPHA:335
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ...	OMIM:615583
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Myopic astigmatism, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Dehydration, Cardiomyopathy, Myopathy, Reduced muscle carnitine level...	OMIM:212140
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Fluctu...	OMIM:610377
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrops fetalis, Ascites	OMIM:269920
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality, Type II diabetes mellitus	ORPHA:3191
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites	ORPHA:93552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Short neck, Cardiomegaly, Flexion contracture, Hydrops...	OMIM:616897
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy	OMIM:274270
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, H...	OMIM:617022
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Alpha-Mannosidosis	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Type II diabetes mellitus	ORPHA:61
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma	ORPHA:96097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Astigmatism, Recurrent pancreatitis, Decreased liver function, Hypopl...	OMIM:618268
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema	ORPHA:79126
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr...	OMIM:616468
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Cherry red spot of the ma...	ORPHA:77293
X-Linked Mandibulofacial Dysostosis	Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology	ORPHA:1131
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr...	ORPHA:699
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin...	ORPHA:139471
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial se...	OMIM:618652
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Intrauterine ...	OMIM:617713
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis...	ORPHA:227990
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Hypoglycemia	ORPHA:48431
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Portal hypertension, Microcytic anemia, Retinal telangiectasia, Chol...	ORPHA:774
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cholelithiasis, Developmental cataract	ORPHA:464738
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Microphthalmia	OMIM:612379
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Alg9-Cdg	Thickened nuchal skin fold, Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hyp...	ORPHA:79328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypoglycemia, Macular atrophy, Neonatal hypoglycemia, Splenomegal...	OMIM:619418
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Corneal opacity, Splenomegaly, Abnormality of the spleen, Thrombocytop...	ORPHA:2072
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology	OMIM:215250
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Lymphadenopathy...	OMIM:619644
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy	ORPHA:44
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Joubert Syndrome 9	Cataract, Hepatic fibrosis, Astigmatism, Retinal dystrophy	OMIM:612285
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contr...	OMIM:212065
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis...	ORPHA:227982
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re...	OMIM:243605
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased testicular size, Cryptorchidism	OMIM:300534
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega...	ORPHA:93400
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Retinal dys...	ORPHA:899
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S...	ORPHA:781
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Roifman Syndrome	Eosinophilia, Retinal dystrophy, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Farber Lipogranulomatosis	Splenomegaly, Cherry red spot of the macula, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Retinal dystrophy, Developmental cataract	OMIM:613155
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Poems Syndrome	Edema, Pericardial effusion, Pleural effusion, Ascites, Visceromegaly	ORPHA:2905
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Abnormality of the neck, Pleural effusion...	ORPHA:464329
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Iris hypopigmentation, Hepatomegaly	ORPHA:834
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, C...	OMIM:610125
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res...	ORPHA:79083
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ...	ORPHA:333
Pierpont Syndrome	Microcornea, Microphthalmia, Cryptorchidism	ORPHA:487825
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Cherry red spot of th...	ORPHA:93399
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the live...	ORPHA:91138
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema	ORPHA:199241
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy, Type I...	ORPHA:99812
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cataract, Abnormality of the tonsils, Retinal arteriolar tortuosity, Splenome...	ORPHA:567
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, Cataract, Sclerocornea, Abnormal chorioretin...	ORPHA:564
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Hennekam Syndrome	Delayed eruption of teeth, Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema...	ORPHA:2136
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno...	ORPHA:540
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm...	ORPHA:2969
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Pierpont Syndrome	Microcornea, Microphthalmia, Cryptorchidism	OMIM:602342
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ...	ORPHA:90003
Myhre Syndrome	Ventricular septal defect, Short stature, Short neck, Pericardial effusion, Patent ductus arterio...	OMIM:139210
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia...	OMIM:615934
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Triploidy	Hepatomegaly, Cataract, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallbladd...	ORPHA:3376
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly...	OMIM:216360
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Cerebrotendinous Xanthomatosis	Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Optic atrophy, Hypermy...	ORPHA:909
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Aredyld Syndrome	Type I diabetes mellitus, Splenomegaly, Type II diabetes mellitus, Hepatomegaly	ORPHA:1133
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Con...	OMIM:617591
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Optic atrophy, Cholelithiasis, Annular pancreas	ORPHA:97297
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Development...	OMIM:610199
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri...	OMIM:619167
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis	ORPHA:42
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Oligohydramnios, Intrauterine growth ret...	OMIM:615846
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, Cardiomyopathy, Camptodactyly of toe, Intrauterine growth retardation,...	ORPHA:158687
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu...	OMIM:251290
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Galactosemia I	Hepatomegaly, Hemolytic anemia, Cataract, Elevated circulating aspartate aminotransferase concent...	OMIM:230400
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:615524
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Webbed neck, Umbilical hernia, Mitral valve prolapse	ORPHA:536532
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Opacification of the corneal stroma, Hepatomegaly	OMIM:205400
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia	OMIM:615665
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy...	OMIM:615986
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Optic atrophy, Conjunctivitis, Anemia	ORPHA:575
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Refsum Disease, Classic	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:266500
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia	OMIM:142680
Ataxia-Telangiectasia	Decreased circulating IgG level, Female hypogonadism, Decreased circulating IgG2 level, Acute lym...	OMIM:208900
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia	ORPHA:556955
Joubert Syndrome 37	Cryptorchidism, Microphthalmia, Decreased testicular size, Hepatomegaly	OMIM:619185
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Cryptorchidism	OMIM:601349
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st...	ORPHA:2348
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Congenital hepati...	ORPHA:1454
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Trisomy 13	Anophthalmia, Cataract, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla...	ORPHA:3378
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:207750
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa...	OMIM:260920
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morpho...	ORPHA:2041
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Portal hypertension, Cardiomegaly, Splenomeg...	ORPHA:465508
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Thrombocytopen...	OMIM:603553
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short neck, Short stature, Cardiomegaly	OMIM:613320
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Ciliary Dyskinesia, Primary, 1	Asplenia, Male infertility	OMIM:244400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly	OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Retinal degeneration, Abnormally large globe	OMIM:615249
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity, Retinal degeneration, Hepatomegaly	OMIM:272200
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Insulin resistance, Cataract, Cryptorchidism	OMIM:214150
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Spl...	ORPHA:264580
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Intrahepatic bile duct ...	OMIM:616307
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya...	OMIM:609049
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth...	OMIM:614222
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmi...	ORPHA:494344
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus	ORPHA:163649
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Trichothiodystrophy 3, Photosensitive	Cataract, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Neutropenia, Mic...	OMIM:616395
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Peripheral edema, Left vent...	ORPHA:57777
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Scheie Syndrome	Splenomegaly, Corneal opacity, Hepatomegaly	ORPHA:93474
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Ankle flexion contracture, Knee flexion contracture, Severe postnatal growth reta...	ORPHA:435938
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea...	OMIM:602782
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract, Retinal pigment epithelial mottling	OMIM:614105
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Abnormal retinal vascular morphology...	ORPHA:33226
Adams-Oliver Syndrome	Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia...	ORPHA:974
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a...	ORPHA:79240
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop...	ORPHA:293173
Bardet-Biedl Syndrome 1	Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Diabetes mellitus, ...	OMIM:209900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Retina...	ORPHA:90324
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Prostatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Warburg Micro Syndrome 4	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Decreased tes...	OMIM:615663
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Iris coloboma, Absent gallbladder	ORPHA:3186
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Bile...	OMIM:618329
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated h...	OMIM:617253
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina...	ORPHA:2510
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Trisomy 8P	Cryptorchidism, Astigmatism, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Heterochrom...	ORPHA:264450
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Bone ...	OMIM:609053
Digeorge Syndrome	Parathyroid agenesis, Sclerocornea, Splenomegaly, Thrombocytopenia, Parathyroid hypoplasia, Hydro...	OMIM:188400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno...	OMIM:608013
Cantú Syndrome	Abnormal heart valve morphology, Short neck, Cardiomegaly, Patent ductus arteriosus, Low posterio...	ORPHA:1517
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Bresek Syndrome	Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Decreased testicular size	ORPHA:85284
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy, Developmental cataract	OMIM:614219
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram...	ORPHA:439
Mixed Connective Tissue Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	OMIM:609166
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Warburg Micro Syndrome 2	Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Chédiak-Higashi Syndrome	Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion	ORPHA:167
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Decreased response to growth hormone stimulatio...	ORPHA:273
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Cadds	Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis	ORPHA:369942
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Cockayne Syndrome	Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retinal atrophy...	ORPHA:191
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kerati...	OMIM:308300
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, M...	ORPHA:85167
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Biliary atresia,...	ORPHA:2255
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Frontonasal Dysplasia 1	Microphthalmia, Cataract	OMIM:136760
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris...	ORPHA:3301
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu...	ORPHA:96191
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Intermediate Uveitis	Cataract, Vitreous haze, Macular scar, Band keratopathy, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A...	ORPHA:293978
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch...	OMIM:236670
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Werner Syndrome	Diabetes mellitus, Cataract, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransfe...	OMIM:277700
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C...	ORPHA:83617
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Absent gallbladder	OMIM:617925
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neu...	OMIM:232220
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano...	ORPHA:1457
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Pleura...	OMIM:232300
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Kapur-Toriello Syndrome	Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:244300
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp...	OMIM:600001
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly	ORPHA:349
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Rhabdomyolysis, Dilated car...	OMIM:614921
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ...	ORPHA:39812
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Hypoglycemia, Cardiomegaly, Optic atrophy, Polycystic ovaries, Mic...	ORPHA:137675
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Splenomegaly, Leukoc...	OMIM:259720
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Hermansky-Pudlak Syndrome 10	Splenomegaly, Ocular albinism, Neutropenia, Hepatomegaly	OMIM:617050
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Hyperinsulinemia, Developmental cataract, Anemia, Vitreo...	OMIM:620185
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem...	OMIM:620040
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Blau Syndrome	Cataract, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Abnormal retinal vascular morpholo...	ORPHA:90340
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Cryptorchidism	OMIM:243310
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Lenz Type	Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmi...	ORPHA:568
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature...	ORPHA:125
H Syndrome	Diabetes mellitus, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Corneal arcus, Decreas...	ORPHA:168569
Familial Aortic Dissection	Patent ductus arteriosus, Cardiomegaly	ORPHA:229
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Biotinidase Deficiency	Splenomegaly, Optic atrophy, Conjunctivitis, Hepatomegaly	OMIM:253260
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphadenopathy, L...	ORPHA:139402
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, ...	OMIM:245600
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Cardiomegaly	OMIM:619259
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ...	ORPHA:1655
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Mosaic Trisomy 9	Corneal opacity, Asplenia, Cryptorchidism, Abnormal liver lobulation, Microphthalmia	ORPHA:99776
Sandhoff Disease	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia	OMIM:268800
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal ...	ORPHA:980
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Congenital diaphragmatic hernia, Dehydration	ORPHA:2260
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thrombocytopenia, Anemia, Cryptorchidism	ORPHA:163979
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen...	ORPHA:31150
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Developmental cataract, Retinal calcification, Microphthalmia, A...	OMIM:127000
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lymphangioleiomyomatosis	Ascites, Chylothorax, Chylopericardium, Lymphedema	ORPHA:538
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Microphthalmia, Cataract, Iris transillumination defect	OMIM:617306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr...	ORPHA:308552
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Phace Association	Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic...	OMIM:606519
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Peripheral edema, Right ventricular...	ORPHA:1677
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Holoprosencephaly	Anophthalmia, Hypoglycemia, Diabetes mellitus, Abnormality of the spleen, Cryptorchidism, Optic a...	ORPHA:2162
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplasia of ...	OMIM:133540
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity	OMIM:615272
Leptospirosis	Hepatomegaly, Papilledema, Macular cotton wool spot, Jaundice, Hepatitis, Retinal hemorrhage, Lym...	ORPHA:509
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Edema, Cardiomegaly, Pericardial effusion, Polyhydramnios, Hydrops fetal...	ORPHA:51608
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis, Delayed puberty	ORPHA:358
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Short stature, Growth dela...	ORPHA:261330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy	OMIM:616538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Limb hypertonia, Cardiomegaly	OMIM:620306
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr...	OMIM:618143
Williams Syndrome	Cataract, Flat cornea, Corneal opacity, Cardiomegaly, Retinal arteriolar tortuosity, Cryptorchidi...	ORPHA:904
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm	OMIM:617883
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Hypoparathyroidism, Elevated circulating a...	OMIM:277900
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ...	OMIM:261515
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, T lymphocytop...	OMIM:251260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy...	ORPHA:2526
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia	OMIM:253800
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia	OMIM:614230
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:352665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion...	OMIM:608836
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Abnormal chori...	ORPHA:464
Jacobsen Syndrome	Cryptorchidism, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphth...	OMIM:147791
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty	ORPHA:91347
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia	ORPHA:2399
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia, Retinopathy, Cryptorchidism	ORPHA:2505
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Cardiomegaly	OMIM:105210
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Lo...	ORPHA:2463
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:181000
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	ORPHA:50815
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Short stature, Cardiomegaly	OMIM:208000
Tyrosinemia, Type I	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, A...	OMIM:276700
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Stiff neck, Pericardial effusion, Myocarditis, Splenomegaly, Ascites	ORPHA:99827
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Trisomy 10P	Absent gallbladder	ORPHA:171929
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Zttk Syndrome	Absent gallbladder, Optic atrophy	OMIM:617140
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Ring Chromosome 13 Syndrome	Retinoblastoma, Hypoplasia of the gallbladder, Abnormal retinal morphology	ORPHA:96176
Bloom Syndrome	Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Decreased circulating to...	OMIM:210900
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity, Anemia	OMIM:617244
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Elevated circulating growth...	ORPHA:97287
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Neut...	ORPHA:193
Truncus Arteriosus	Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent...	ORPHA:3384
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract, Neonatal hypoglycemia	ORPHA:35173
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly,...	OMIM:608594
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Congenital hypertrophy ...	ORPHA:733
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Facial palsy	OMIM:113650
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp...	ORPHA:186
Branchiootic Syndrome	Branchial fistula, Facial palsy	ORPHA:52429
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Alagille Syndrome 1	Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Hepatocellular carcinoma, Band ke...	OMIM:118450
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Patent du...	ORPHA:261337
Bor Syndrome	Branchial cyst, Facial palsy	ORPHA:107
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia	OMIM:167730
Tetraamelia Syndrome 1	Asplenia, Microphthalmia, Cataract, Adrenal gland agenesis	OMIM:273395
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Tetrasomy 9P	Absent gallbladder, Abnormal chorioretinal morphology, Cryptorchidism, Jaundice, Biliary atresia	ORPHA:3310
Peters-Plus Syndrome	Cataract, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Retinal coloboma, Pete...	OMIM:261540
Aicardi Syndrome	Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Hepatobl...	OMIM:304050
Moebius Syndrome	Microphthalmia, Decreased testicular size	OMIM:157900
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I...	ORPHA:183675
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Keratitis, Orchitis, Abnormality of the ante...	ORPHA:449563
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Growth de...	OMIM:252500
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma, Hepatic agenesis	ORPHA:1692
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Ect...	ORPHA:42775
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnor...	ORPHA:436252
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Joubert Syndrome 14	Microphthalmia, Optic atrophy, Morning glory anomaly	OMIM:614424
Mednik Syndrome	Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis	OMIM:609313
Martsolf Syndrome 1	Cryptorchidism, Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen...	OMIM:603467
Coccidioidomycosis	Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph...	ORPHA:228123
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis...	OMIM:249000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Anterior pitui...	OMIM:206900
Hydrolethalus	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2189
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly	ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Frontorhiny	Microphthalmia, Hypopituitarism, Cataract, Iris coloboma	ORPHA:391474
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Focal Dermal Hypoplasia	Acute hepatic failure, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal col...	ORPHA:2092
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Retinopathy	OMIM:615636
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil...	ORPHA:3260
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Monosomy 18P	Microphthalmia	ORPHA:1598
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles...	OMIM:613610
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Pancreatitis	ORPHA:565612
Behçet Disease	Cataract, Orchitis, Splenomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Keratoconjunctivit...	ORPHA:117
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Optic nerve compression, Anemia	ORPHA:667
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Cryptorchidism	ORPHA:228390
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Short stature, Facial palsy, Polyhydramnios, Atrial septal defect, I...	OMIM:620186
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Cataract, Parotitis, Eosinophilia, Portal hypertension, Thrombocy...	ORPHA:797
Rothmund-Thomson Syndrome, Type 2	Cataract, Cryptorchidism, Microcornea, Microphthalmia, Annular pancreas, Zonular cataract	OMIM:268400
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal...	ORPHA:449395
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Conjunctivitis	ORPHA:32960
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia	OMIM:613001
Fanconi Anemia, Complementation Group C	Pancytopenia, Thrombocytopenia, Cryptorchidism, Reticulocytopenia, Bone marrow hypocellularity, N...	OMIM:227645
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Cryptorchidism, Reticulocytopenia, Bone marrow hypocellularity, L...	OMIM:227646
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma, Cryptorchidism	OMIM:619135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short ne...	OMIM:300855
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Chronic hepatitis, Lym...	ORPHA:289390
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris ...	ORPHA:3380
Meckel Syndrome 14	Microphthalmia, Hepatic fibrosis	OMIM:619879
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Familial Mediterranean Fever	Acute hepatic failure, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim...	OMIM:619573
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ...	OMIM:175780
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl...	ORPHA:365
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Optic atrophy, Optic nerve hypoplasia	ORPHA:500150
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly	ORPHA:228308
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Galloway-Mowat Syndrome 1	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia	OMIM:251300
Trichothiodystrophy	Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, De...	ORPHA:33364
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microp...	ORPHA:959
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature...	ORPHA:508488
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t...	OMIM:241410
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Hypoplastic nipples	OMIM:156610
Gaisböck Syndrome	Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased h...	ORPHA:90041
Hallermann-Streiff Syndrome	Cataract, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Congenital ...	ORPHA:93325
Dubowitz Syndrome	Aplastic anemia, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphtha...	OMIM:223370
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism	OMIM:248700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Impaired glucose tolerance, Parotitis, Cardiomegaly,...	OMIM:256040
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle...	ORPHA:2556
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Joubert Syndrome 2	Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma	OMIM:608091
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Umbilical hernia, Ab...	ORPHA:581
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Fanconi Anemia, Complementation Group E	Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, T...	OMIM:600901
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Vacterl With Hydrocephalus	Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Microphthalmia	ORPHA:3412
Treacher-Collins Syndrome	Thyroid hypoplasia, Cataract, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Iris colo...	ORPHA:861
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Microphthalmia, Iris co...	ORPHA:508498
Fanconi Anemia, Complementation Group A	Pancytopenia, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, T...	OMIM:227650
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Bile...	OMIM:613658
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Monosomy 9Q22.3	Microphthalmia, Cataract, Retinopathy, Ovarian fibroma	ORPHA:77301
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cryptorchidism, Optic atrophy, Peters anomaly, Microphthalmia, Annular pancreas	OMIM:616975
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma, Cryptorchidism	ORPHA:250989
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Cryptorchidism	OMIM:619148
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism	ORPHA:887
Fryns Syndrome	Ectopic pancreatic tissue, Cryptorchidism, Polysplenia, Opacification of the corneal stroma, Micr...	OMIM:229850
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Cryptorchidism	ORPHA:251014
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Thyroid C cell hyperplasia, Sclerocornea	OMIM:300952
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia, Abdominal situs inversus, Developmental cataract	ORPHA:2108
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy...	OMIM:130650
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the i...	ORPHA:84
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly	ORPHA:79280
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Ovarian neopl...	ORPHA:100079
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Kawasaki Disease	Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Conjunctivitis, Cholecystitis	ORPHA:2331
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Phthis...	OMIM:300166
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism	ORPHA:221120
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
African Trypanosomiasis	Hepatomegaly, Papilledema, Keratitis, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy...	ORPHA:3385
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea...	ORPHA:141099
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Orchitis, Jaundice, Ne...	ORPHA:99826
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S...	ORPHA:116
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Optic atrophy	OMIM:201180
Fryns Syndrome	Microphthalmia, Corneal opacity, Cryptorchidism	ORPHA:2059
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Wolf-Hirschhorn Syndrome	Sclerocornea, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, Abdominal situs inve...	ORPHA:280
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cryptorchidism, Cholestasis, Hepatospl...	OMIM:619488
Abetalipoproteinemia	Hepatomegaly, Myopathy, Distal lower limb muscle weakness, Cardiomegaly	ORPHA:14
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Acute lymphoblastic leukemia, Microphthalmia, Ascites	ORPHA:1052
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Cryptorchidism	ORPHA:2728
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Basal Cell Nevus Syndrome 1	Cataract, Ovarian fibroma, Ovarian carcinoma, Microphthalmia, Iris coloboma	OMIM:109400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Supernumerary nipple	ORPHA:1236
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp...	ORPHA:653
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Thrombocytopenia, Abnorm...	ORPHA:534
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Hepatosplenomegaly, Hypertrop...	ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Eruption fai...	OMIM:182250
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Iris coloboma, Unilateral microphthalmos	OMIM:618874
Smith-Lemli-Opitz Syndrome	Cataract, Sclerocornea, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, Aplasia/Hy...	ORPHA:818
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Post...	ORPHA:3472
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Supernumerary nipple, Cryptorchidism, Duplication of internal organs, Ret...	OMIM:113620
Pseudotrisomy 13 Syndrome	Microphthalmia, Cryptorchidism	OMIM:264480
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Cataract, Decreased response to growth hormone stimulation test...	OMIM:214800
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperplasia, Pa...	ORPHA:99889
Fanconi Anemia, Complementation Group L	Microphthalmia, Bone marrow hypocellularity, Anemia	OMIM:614083
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmi...	OMIM:263650
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Iri...	OMIM:613884
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Microp...	OMIM:146510
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Monosomy 13Q14	Microphthalmia, Cataract, Retinoblastoma, Iris coloboma	ORPHA:1587
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Ohdo Syndrome, X-Linked	Microphthalmia, Cryptorchidism	OMIM:300895
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Conjunctival hyperemia...	ORPHA:707
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Retinopathy, Thrombocytopenia	ORPHA:536
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Cryptorchidism, Biliary tract abnormality, Opacifica...	OMIM:268300
Roberts Syndrome	Microphthalmia, Cataract, Thrombocytopenia, Cryptorchidism	ORPHA:3103
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Anasarca, Hypertroph...	ORPHA:79318
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Mend Syndrome	Microphthalmia, Cataract, Cryptorchidism	ORPHA:401973
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Cryptorchidism	OMIM:616300
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic atrophy, Hypoplastic ni...	OMIM:305600
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism	ORPHA:1106
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cataract, Cryptorchidism	OMIM:603457
Hydrolethalus Syndrome 1	Accessory spleen, Microphthalmia, Adrenal gland dysgenesis	OMIM:236680
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Iris coloboma, A...	OMIM:157170
Charge Syndrome	Anophthalmia, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Anterior hyp...	ORPHA:138
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Attenuation ...	ORPHA:468631
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Polyhydramnios, Congenital diaphragmatic hernia, Contracture of...	OMIM:613406
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma	OMIM:610828
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium, Cryptorchidism	OMIM:609945
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Thyroid hypoplasia, Cryptorchidism	ORPHA:2166
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology	OMIM:219000
Mowat-Wilson Syndrome	Cataract, Supernumerary nipple, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal colo...	OMIM:235730
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia, Cryptorchidism	OMIM:616734
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Asplenia, Cryptorchidism, Abnormal pupil morphology, Optic atrophy, Micro...	ORPHA:261552
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica...	OMIM:309000
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Anter...	OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Monosomy 9P	Microphthalmia, Cryptorchidism	ORPHA:261112
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Asplenia, Cryptorchidism, Hydrocele testis, Astigmatism, Retinal coloboma, Axenfeld ano...	ORPHA:261537
Renpenning Syndrome 1	Microphthalmia, Cataract, Decreased testicular size	OMIM:309500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Fontaine Progeroid Syndrome	Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hypertrophy, Microphthalmia	OMIM:612289
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct...	OMIM:164210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Mowat-Wilson Syndrome	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Chordee, Oligom...	ORPHA:2152
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract, Cryptorchidism	OMIM:256520
Townes-Brocks Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pallister-Hall Syndrome	Thyroid hypoplasia, Cryptorchidism, Adrenocorticotropic hormone deficiency, Gonadotropin deficien...	ORPHA:672
Adams-Oliver Syndrome 1	Microphthalmia, Supernumerary nipple	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:2052
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti...	OMIM:309800
Holoprosencephaly 1	Microphthalmia, Hypoglycemia	OMIM:236100
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Homozygous Familial Hypercholesterolemia	Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis	ORPHA:391665

Histopathology

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

There is no histopathology data for Akap13

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 Akap13.

No publications found that use IMPC mice or data for Akap13.

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MGI Allele	Allele Type	Produced
Akap13^em1(IMPC)Mbp	Exon Deletion	Mice

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: Akap13 MGI:2676556

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Akap13 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data