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Gene: Akap13 MGI:2676556

Gene Summary

Name:

A kinase anchor protein 13

Synonyms:

1700026G02Rik, 5830460E08Rik, Ht31, PROTO-LBC, AKAP-Lbc, 5730522G15Rik, 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 spleen	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Akap13^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal eye morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal gallbladder morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
enlarged gallbladder	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Akap13^em1(IMPC)Mbp	HOM	Early adult	2.17×10^-07
microphthalmia	Akap13^em1(IMPC)Mbp	HOM	Early adult	0.00
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 spleen morphology	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 Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 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 (1369 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, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	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	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath...	ORPHA:100024
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ...	ORPHA:277
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Gcgr-Related Hyperglucagonemia	Increased glucagon level, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morpho...	ORPHA:438274
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta...	ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade...	OMIM:603909
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Microphthalmia, Splenomegaly, Aplasia/Hypoplasia of the iris,...	ORPHA:290
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ...	OMIM:601859
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo...	ORPHA:231222
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Hepatitis, Increased mean corpuscular hemoglobin concentrat...	OMIM:194380
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration	OMIM:300752
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice	OMIM:618881
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Growth delay, Chyloperica...	ORPHA:2414
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly, Cataract	ORPHA:79238
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter...	ORPHA:53035
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym...	ORPHA:397596
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P...	ORPHA:60041
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th...	OMIM:611040
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Combined Saposin Deficiency	Hepatomegaly, Optic atrophy, Splenomegaly	OMIM:611721
Cantu Syndrome	Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao...	OMIM:239850
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocyto...	OMIM:603552
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Cholelithiasis, Type I diabetes mellitus, Pigmentary retinopathy, Keratoconjunctivitis,...	OMIM:240300
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Short neck, Pericardial effusion, Enlarged kidney	OMIM:613885
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:613642
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ...	OMIM:251270
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Chorioretinal dysplasia, Microphthalmia	OMIM:616335
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Foveal Hypoplasia 2	Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th...	OMIM:609218
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Retinal thinning, Hepatosplenomegaly, Intrahepatic bile...	OMIM:618955
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Idiopathic Uveal Effusion Syndrome	Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph...	ORPHA:209956
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Sandhoff Disease	Hepatomegaly, Splenomegaly, Cherry red spot of the macula	ORPHA:796
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Microphthalmia, Hepatomegaly, Optic disc pallor	OMIM:613730
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir...	ORPHA:891
Left Ventricular Noncompaction 10	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615396
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa...	OMIM:616171
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat...	OMIM:614096
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri...	OMIM:620135
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Fish-Eye Disease	Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy	ORPHA:79292
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal...	OMIM:305390
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration, Microphthalmia, Shallow ante...	OMIM:267760
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Kerion Celsi	Lymphadenopathy	ORPHA:499
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Cataract	OMIM:614876
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Galactosemia Ii	Prolonged neonatal jaundice, Cataract	OMIM:230200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Optic disc pal...	OMIM:615512
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Splenomegaly, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Myotonic Dystrophy 1	Testicular atrophy, Cataract, Cholelithiasis	OMIM:160900
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Ketotic hypoglycemia, Retinal degeneration	OMIM:620646
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Congenital Disorder Of Glycosylation, Type Il	Ascites, Splenomegaly, Hepatomegaly, Short neck, Atrial septal defect, Pericardial effusion, Hydr...	OMIM:608776
Hemochromatosis, Type 4	Cataract, Glucose intolerance, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Diabetes melli...	OMIM:606069
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen, Hypergonadotropic hypogona...	OMIM:617053
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepa...	OMIM:607616
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Left Ventricular Noncompaction 8	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615373
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminot...	OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Developmental cataract, Hepatomegaly, Retinal d...	OMIM:619273
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Type I...	ORPHA:171
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus...	ORPHA:232
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Ascites, Absent gallbladder,...	OMIM:615710
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe...	OMIM:620070
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m...	OMIM:612526
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia...	ORPHA:79477
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A...	OMIM:261740
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Glucose intolerance	ORPHA:75563
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:611638
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content	OMIM:261750
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia	ORPHA:363741
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Retinopathy, Thrombocytopenia, Hepatomegaly, Mediastinal ly...	ORPHA:158029
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr...	ORPHA:363705
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Gombo Syndrome	Microphthalmia	OMIM:233270
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal...	ORPHA:36412
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Microphthalmia, Isolated 6	Retinal fold, Microcornea, Microphthalmia	OMIM:613517
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy	ORPHA:3156
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Micropht...	OMIM:212550
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function, Cataract	ORPHA:570422
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi...	OMIM:232800
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Retinal degene...	OMIM:615630
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1466
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Cervical lymphadenopathy, Coombs-positive hemo...	OMIM:614034
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Autoimmune hemoly...	OMIM:614700
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:613490
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Alkuraya-Kucinskas Syndrome	Webbed neck, Arthrogryposis multiplex congenita, Pleural effusion, Camptodactyly, Cystic hygroma,...	OMIM:617822
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s...	OMIM:618775
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, Abnormal d...	ORPHA:521219
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Corneal opacity	ORPHA:93476
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Sialidosis Type 2	Abnormal macular morphology, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly	ORPHA:87876
Congenital Enterovirus Infection	Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe...	ORPHA:292
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Mulibrey Nanism	Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Pericardial constriction, S...	OMIM:253250
Fetal Cytomegalovirus Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr...	ORPHA:294
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Abnormality of the liver, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Neuraminidase Deficiency	Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepat...	OMIM:256550
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy	OMIM:617772
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Hepatomegaly...	OMIM:619487
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventricular sept...	OMIM:620519
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Lymphadenopathy, Anemia	OMIM:607115
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Corneal scarring, Reduced erythrocyte uroporphyrinogen III cosynt...	OMIM:263700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Nephroblastoma	Aniridia, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Joint contracture of the hand, Delayed eruption of teeth, Umbilical hernia, Ly...	OMIM:235510
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia	OMIM:306000
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Griscelli Syndrome	Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly,...	ORPHA:381
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Ascites, Cardiomegaly, Cardiac myxoma, Pedal edema	ORPHA:615
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Broad neck, Cardiomyopathy, Hypertrophic ...	OMIM:300280
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula	OMIM:230650
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Refsum Disease	Cataract, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Microphthalmia	ORPHA:773
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ...	OMIM:611490
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema	ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97261
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Cerebrotendinous Xanthomatosis	Cataract, Cholelithiasis, Optic disc pallor	OMIM:213700
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H...	ORPHA:83461
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia, Microphthalmia	OMIM:614830
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomega...	ORPHA:83469
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal...	ORPHA:26793
Warburg Micro Syndrome 1	Optic atrophy, Microcornea, Cryptorchidism, Developmental cataract, Microphthalmia	OMIM:600118
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Steinfeld Syndrome	Microphthalmia, Iris coloboma, Absent gallbladder, Retinal coloboma	OMIM:184705
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure	OMIM:614886
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormal retina...	ORPHA:33276
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Glucose intolerance, Splenomega...	OMIM:235200
Roifman Syndrome	Splenomegaly, Eosinophilia, Lymphadenopathy, Hepatomegaly, Retinal dystrophy	OMIM:616651
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Galactokinase Deficiency	Cataract, Nuclear cataract, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly	ORPHA:79237
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Microphthalmia	OMIM:615771
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Webbed neck, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effus...	OMIM:616897
Mevalonic Aciduria	Cataract, Nuclear cataract, Elevated circulating hepatic transaminase concentration, Fluctuating ...	OMIM:610377
Verheij Syndrome	Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S...	OMIM:615583
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa...	OMIM:278000
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Joubert Syndrome 33	Splenomegaly, Cone/cone-rod dystrophy	OMIM:617767
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema	ORPHA:93552
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:618838
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ...	OMIM:212140
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Myopic astigmatism, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Left ventricular hypertrophy, Retinal detachment, Corneal opacity, Microphthalmia	OMIM:613153
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus, Biliary tract abnormality	ORPHA:3191
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Cinca Syndrome	Pseudopapilledema, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality...	ORPHA:1451
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Stiff neck, Intrauterine growth retardation, Olig...	OMIM:617022
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec...	OMIM:601495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97278
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, Scle...	ORPHA:139471
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Cataract, Elevated circulating aspartate aminotransfe...	OMIM:607330
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia	OMIM:274270
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal...	OMIM:618652
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Alpha-Mannosidosis	Cataract, Type II diabetes mellitus, Splenomegaly, Corneal opacity, Hepatomegaly	ORPHA:61
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Chorioretinal coloboma	ORPHA:96097
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Mitral v...	ORPHA:77261
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus	OMIM:616501
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Acute Interstitial Pneumonia	Pericardial effusion, Peripheral edema, Pleural effusion	ORPHA:79126
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, He...	OMIM:617388
X-Linked Mandibulofacial Dysostosis	Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis	ORPHA:1131
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Astigm...	OMIM:618268
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Intrauterine growth retardation, Cardiomegaly	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Myopathy, Cardiomegaly, Left ve...	OMIM:617713
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali...	OMIM:300257
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy	OMIM:614979
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ...	ORPHA:699
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opac...	ORPHA:2788
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnormal macular morphology, Cher...	ORPHA:355
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Alg9-Cdg	Rhizomelia, Hypoplasia of the musculature, Thickened nuchal skin fold, Abnormal heart morphology,...	ORPHA:79328
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Microcornea, Developmental cataract, Microphthalmia	ORPHA:464738
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Acute ...	ORPHA:905
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Microcytic anem...	OMIM:612379
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Corneal opacity, Hepa...	ORPHA:585
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Cherry red spot of the macula, Hypersp...	ORPHA:77293
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Nonimmune hydrops fetalis, Hepatomegaly, Pericardial effusion, Flexion contractur...	OMIM:212065
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Neonatal Adrenoleukodystrophy	Cataract, Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Poems Syndrome	Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Pericardial effusion, Edema	ORPHA:2905
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment, Microphthalmia	ORPHA:627
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Hypoglycemia, Microphthalmia	ORPHA:48431
Joubert Syndrome 9	Hepatic fibrosis, Astigmatism, Retinal dystrophy, Cataract	OMIM:612285
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Walker-Warburg Syndrome	Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Cryptorchidi...	ORPHA:899
Mmep Syndrome	Cryptorchidism, Microphthalmia	ORPHA:3434
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,...	ORPHA:98850
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Chediak-Higashi Syndrome	Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Retinal dystrophy	ORPHA:353298
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Q Fever	Abnormal heart valve morphology, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Hepatomegaly...	ORPHA:781
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Microphthal...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Developmental cataract, Microphthalmia	OMIM:613155
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Lissencephaly 8	Cataract, Optic atrophy, Microphthalmia	OMIM:617255
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Microphthalmia/Coloboma 9	Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea...	OMIM:615145
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Congenital Sialidosis Type 2	Cataract, Optic atrophy, Cherry red spot of the macula, Ascites, Hepatosplenomegaly, Hypoplasia o...	ORPHA:93400
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormality of the neck, Pericardial effusion...	ORPHA:464329
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu...	OMIM:300972
Cat-Eye Syndrome	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:195
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Farber Lipogranulomatosis	Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Lipogranulomatosis	OMIM:228000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Matthew-Wood Syndrome	Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas...	ORPHA:2470
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ...	ORPHA:1332
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia	ORPHA:1335
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Elevated circulating hepatic tra...	ORPHA:480520
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Cryptorchidism, Microphthalmia,...	OMIM:610125
Metachromatic Leukodystrophy	Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology	ORPHA:512
Pierpont Syndrome	Microcornea, Cryptorchidism, Microphthalmia	ORPHA:487825
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pulmonary edema, Pleural effusion, Pedal edema	ORPHA:199241
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex...	OMIM:620005
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Conjunctival ...	ORPHA:3392
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Type II diabet...	OMIM:269200
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Free Sialic Acid Storage Disease	Hepatomegaly, Iris hypopigmentation, Splenomegaly, Ascites	ORPHA:834
Atrial Standstill	Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno...	ORPHA:1344
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Bone marrow hypocellularity, Decreased pineal volume, Cataract	OMIM:301108
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Type II diabetes mellitus, Cryptorchidism, Lymphadeno...	ORPHA:99812
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys...	ORPHA:79083
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Juvenile Sialidosis Type 2	Cataract, Optic atrophy, Visceromegaly, Cherry red spot of the macula, Hepatosplenomegaly, Cornea...	ORPHA:93399
Diarrhea 10, Protein-Losing Enteropathy Type	Anasarca, Ascites, Polyhydramnios, Pleural effusion, Pericardial effusion	OMIM:618183
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coomb...	OMIM:304790
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Macul...	ORPHA:333
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Abnormality of macular pigmentation, Increased hepatic echogenicity, Optic disc coloboma, Ectopia...	OMIM:608940
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lym...	ORPHA:91138
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Gaucher Disease, Type I	Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly	OMIM:230800
Pierpont Syndrome	Microcornea, Cryptorchidism, Microphthalmia	OMIM:602342
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Cryptorchidism, Optic nerv...	OMIM:214110
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular ...	OMIM:139210
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Congenita...	ORPHA:564
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret...	OMIM:106210
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Hennekam Syndrome	Chylothorax, Delayed eruption of teeth, Lymphedema, Camptodactyly of finger, Ascites, Mild postna...	ORPHA:2136
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp...	ORPHA:2969
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
22Q11.2 Deletion Syndrome	Cataract, Cholelithiasis, Optic atrophy, Retinal arteriolar tortuosity, Splenomegaly, Corneal neo...	ORPHA:567
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati...	OMIM:251880
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Hepatosplenomeg...	OMIM:620376
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cardiomyopathy, Dilated, 1D	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:601494
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Microphthalmia	OMIM:619694
Meckel Syndrome, Type 5	Bile duct proliferation, Microphthalmia	OMIM:611561
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Cerebrotendinous Xanthomatosis	Optic atrophy, Cholelithiasis, Juvenile cataract, Abnormal retinal vascular morphology, Hypermyel...	ORPHA:909
Temtamy Syndrome	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Triploidy	Cataract, Abnormality of the gallbladder, Cryptorchidism, Aplasia/Hypoplasia affecting the eye, H...	ORPHA:3376
Aicardi-Goutieres Syndrome 7	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Splenomegaly, Limb...	OMIM:615846
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Microphthalmia, Syndromic 12	Anophthalmia, Cryptorchidism, Microphthalmia	OMIM:615524
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Pseudo-Torch Syndrome 1	Cataract, Elevated circulating hepatic transaminase concentration, Decreased liver function, Sple...	OMIM:251290
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Aredyld Syndrome	Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly	ORPHA:1133
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Lymphedema	ORPHA:3137
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Camptodactyly of t...	ORPHA:158687
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly	ORPHA:42
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ...	OMIM:242860
Galactosemia I	Cataract, Decreased liver function, Elevated circulating aspartate aminotransferase concentration...	OMIM:230400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef...	OMIM:619167
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Microphthalmia	OMIM:601349
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Autoimmune Hepatitis	Viral hepatitis, Increased circulating IgG level, Splenomegaly, Sclerosing cholangitis, Increased...	ORPHA:2137
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy	ORPHA:97297
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Congenital Syphilis	Cataract, Optic atrophy, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegal...	ORPHA:499009
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Aymé-Gripp Syndrome	Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri...	ORPHA:1272
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Webbed neck, Mitral valve prolapse, Umbilical hernia	ORPHA:536532
Joubert Syndrome 22	Retinal dysplasia, Microphthalmia	OMIM:615665
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Retinal detachment, Microphth...	ORPHA:370959
Alpha-Mannosidosis, Adult Form	Cataract, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor	ORPHA:309288
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Cervical lymphadenopathy, Conjunctival hyperemia, Hepatomegaly, Conjunctivitis	OMIM:142680
Bardet-Biedl Syndrome 9	Cataract, Hyperglycemia, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration,...	OMIM:615986
Refsum Disease, Classic	Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:266500
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Joubert Syndrome 37	Hepatomegaly, Decreased testicular size, Cryptorchidism, Microphthalmia	OMIM:619185
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Trisomy 13	Optic atrophy, Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Cryptorchidism, Abnormal r...	ORPHA:3378
Otodental Syndrome	Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Opacification of the corneal stroma, Splenomegaly	OMIM:205400
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility	ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Hepatosp...	OMIM:603553
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Rod-cone dystroph...	OMIM:260920
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Optic disc coloboma, Chorioretinal colob...	ORPHA:1454
Pancreatic Agenesis-Holoprosencephaly Syndrome	Neonatal insulin-dependent diabetes mellitus, Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:613179
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly, Lipemia retinalis	OMIM:207750
Multiple Sulfatase Deficiency	Hepatomegaly, Retinal degeneration, Splenomegaly, Corneal opacity	OMIM:272200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Microphthalmia	OMIM:619053
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomega...	ORPHA:2348
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat...	ORPHA:275
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Postnatal growth retardation, Short neck, Cardiomegaly	OMIM:613320
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cystic hygroma, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth ret...	ORPHA:453499
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, V...	OMIM:620609
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Cataract, Cryptorchidism, Microphthalmia	OMIM:214150
Cirrhotic Cardiomyopathy	Ascites, Peripheral edema, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, P...	ORPHA:57777
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449432
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Abnormally large globe, Retinal degeneration	OMIM:615249
Warburg Micro Syndrome 3	Cataract, Microcornea, Optic atrophy, Decreased testicular size, Developmental cataract, Micropht...	OMIM:614222
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Peters anomaly, Chorioretinal coloboma, Astigmatism, Cryptorchidism, Microphthalmi...	ORPHA:494344
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Prostatitis, Absent circulating B cells, Enterov...	OMIM:307200
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus...	OMIM:601005
Ciliary Dyskinesia, Primary, 1	Asplenia, Male infertility	OMIM:244400
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Hepatic cysts, Rod-cone dystrophy, Macular atrophy, Pancreatic...	OMIM:616307
Temtamy Syndrome	Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation	OMIM:218340
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased...	OMIM:612301
Scheie Syndrome	Hepatomegaly, Splenomegaly, Corneal opacity	ORPHA:93474
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosi...	ORPHA:465508
Trichothiodystrophy 3, Photosensitive	Cataract, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Developmental cataract, Neu...	OMIM:616395
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:264580
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Branchial cyst, Knee flexion contracture, Severe postnatal growth reta...	ORPHA:435938
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hepatosplenomegaly, Anemia, Lymphadenop...	ORPHA:85450
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Retinal detachment, Hypopigmentation of the fundus, Microphthalmia	ORPHA:163649
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Meckel Syndrome, Type 2	Bile duct proliferation, Microphthalmia	OMIM:603194
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Bardet-Biedl Syndrome 1	Insulin resistance, Hepatic fibrosis, Cataract, Abnormality of the ovary, Decreased testicular si...	OMIM:209900
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden...	ORPHA:100085
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Elevated circulating hepatic transaminase concentration, Reti...	ORPHA:90324
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Waldenström Macroglobulinemia	Normocytic anemia, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Abnormal retinal vascular morp...	ORPHA:33226
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,...	ORPHA:293173
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreas...	OMIM:602782
Castleman Disease	Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto...	ORPHA:160
Warburg Micro Syndrome 4	Optic atrophy, Microcornea, Decreased testicular size, Cryptorchidism, Developmental cataract, Mi...	OMIM:615663
Micro Syndrome	Cataract, Microcornea, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Cryp...	ORPHA:2510
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Adams-Oliver Syndrome	Cataract, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Throm...	ORPHA:974
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Elevated circulating hepatic transaminase ...	OMIM:615688
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis	OMIM:201475
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn...	ORPHA:324410
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Microphthalmia, Iris coloboma, Optic nerve hypoplasia	ORPHA:85284
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Microphthalmia	OMIM:300887
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ...	ORPHA:293978
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Hepatic steatosis, Splenomegaly, Ovarian cyst, Hypoplasia...	OMIM:188400
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Microphthalmia	OMIM:614105
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas...	ORPHA:100093
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Microphthalmia	OMIM:164180
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Astigmatism, ...	OMIM:609053
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat...	OMIM:617253
Gaucher Disease, Perinatal Lethal	Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Nonim...	OMIM:608013
Adams-Oliver Syndrome 2	Optic atrophy, Developmental cataract, Microphthalmia	OMIM:614219
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Iris coloboma, Absent gallbladder, Microphthalmia	ORPHA:3186
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased l...	OMIM:618329
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Low...	ORPHA:1517
Papillorenal Syndrome	Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho...	OMIM:120330
Trisomy 8P	Annular pancreas, Astigmatism, Cryptorchidism, Heterochromia iridis, Aplasia/Hypoplasia of the ga...	ORPHA:264450
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circula...	OMIM:618500
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Ectopia lentis, Retinal detachment, Microphthalmia, Iris coloboma	ORPHA:2712
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Keratoconjunctivitis sicca, Lymphadenopath...	ORPHA:809
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Decreased circulating ...	OMIM:613385
Warburg Micro Syndrome 2	Cataract, Microcornea, Optic atrophy, Cryptorchidism, Developmental cataract, Microphthalmia	OMIM:614225
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Sick Sinus Syndrome 2	Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse	OMIM:163800
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom...	ORPHA:97289
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Branchiogenic-Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	OMIM:609166
Meckel Syndrome, Type 4	Bile duct proliferation, Microphthalmia	OMIM:611134
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy	ORPHA:73224
Cockayne Syndrome	Lentiglobus, Cryptorchidism, Microphthalmia, Hepatomegaly, Optic disc pallor, Corneal ulceration,...	ORPHA:191
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Cadds	Cholestasis, Cholangitis, Elevated circulating hepatic transaminase concentration, Cataract	ORPHA:369942
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Microphthalmia	OMIM:602501
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Steinert Myotonic Dystrophy	Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Post...	ORPHA:273
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Retinal thinning, Microphthalmia, Abnormality of retinal pigmentation, Cone/con...	ORPHA:85167
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Chédiak-Higashi Syndrome	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Edema	ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Microphtha...	OMIM:614643
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:619381
Incontinentia Pigmenti	Cataract, Optic atrophy, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leuk...	OMIM:308300
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cataract, Microcornea, Iris coloboma, Cryptorchidism, Microphthalmia, Septo-optic ...	ORPHA:3301
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia	ORPHA:2714
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Frontonasal Dysplasia 1	Cataract, Microphthalmia	OMIM:136760
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma	ORPHA:1791
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,...	ORPHA:2255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Optic atrophy, Peters anomaly, Megalocornea, Cryptorchidism, Retinal atrophy, Retinal d...	OMIM:236670
Paternal Uniparental Disomy Of Chromosome 6	Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios,...	ORPHA:96191
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Pa...	OMIM:306955
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Goiter	ORPHA:142
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium	OMIM:619339
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Cryptorchidism, Microphthalmia, Iris coloboma	OMIM:244300
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Corneal opacity	ORPHA:349
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c...	ORPHA:79330
Werner Syndrome	Cataract, Elevated circulating aspartate aminotransferase concentration, Retinal degeneration, El...	OMIM:277700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperpla...	ORPHA:83617
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Microphthalmia	OMIM:617925
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Baraitser-Winter Syndrome 1	Iris coloboma, Cryptorchidism, Chorioretinal coloboma, Microphthalmia	OMIM:243310
Microphthalmia, Lenz Type	Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Cryptorchidism, Microphthalmi...	ORPHA:568
Histiocytoid Cardiomyopathy	Optic atrophy, Hypoglycemia, Megalocornea, Microphthalmia, Polycystic ovaries, Cardiomegaly, Corn...	ORPHA:137675
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:615947
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy	ORPHA:1806
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Hepatomegaly, De...	OMIM:614921
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia, Ocular albinism	OMIM:617050
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a...	OMIM:613426
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Biliary atresia, Diabetes m...	OMIM:600001
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Pancreatitis...	OMIM:232220
H Syndrome	Histiocytosis, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:168569
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Cataract, Astigmatism, Retinal coloboma	OMIM:618571
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	ORPHA:562639
Glycogen Storage Disease Ii	Firm muscles, Limb muscle weakness, Splenomegaly, Pleural effusion, Cardiomegaly, Hepatomegaly, M...	OMIM:232300
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomeg...	OMIM:259720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Webbed neck, Rhizomelia, Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve...	OMIM:245600
Blau Syndrome	Cataract, Keratitis, Abnormal optic nerve morphology, Abnormality of the liver, Splenomegaly, Abn...	ORPHA:90340
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Ly...	ORPHA:39812
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Gaucher Disease, Type Iiic	Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma	OMIM:231005
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Eosino...	ORPHA:139402
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Atelis Syndrome 2	Hyperinsulinemia, Microphthalmia, Vitreous hemorrhage, Developmental cataract, Remnants of the hy...	OMIM:620185
Familial Aortic Dissection	Cardiomegaly, Patent ductus arteriosus	ORPHA:229
Bloom Syndrome	Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease...	ORPHA:125
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:619259
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormally large globe, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly...	ORPHA:1655
Garg-Mishra Progeroid Syndrome	Microphthalmia, Microvesicular hepatic steatosis	OMIM:620601
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Developmental cataract, Microphthalmia, Anemia, Retinal calcific...	OMIM:127000
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Splenomegaly, Lipemia retinalis, Jaundice, Acute pancreatitis	OMIM:238600
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Biotinidase Deficiency	Hepatomegaly, Conjunctivitis, Optic atrophy, Splenomegaly	OMIM:253260
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Mosaic Trisomy 9	Cryptorchidism, Corneal opacity, Microphthalmia, Asplenia, Abnormal liver lobulation	ORPHA:99776
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen...	ORPHA:980
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Sandhoff Disease	Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia	OMIM:268800
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Micro...	ORPHA:649
Oligomeganephronia	Congenital diaphragmatic hernia, Secundum atrial septal defect, Branchial cyst, Dehydration	ORPHA:2260
Lymphangioleiomyomatosis	Ascites, Chylothorax, Chylopericardium, Lymphedema	ORPHA:538
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Absent gallbladder, Cryptorchidism, Thrombocytopenia	ORPHA:163979
Cockayne Syndrome B	Optic atrophy, Microcornea, Pigmentary retinopathy, Hypoplasia of the iris, Splenomegaly, Cryptor...	OMIM:133540
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Microphthalmia	OMIM:617306
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Leptospirosis	Hepatitis, Retinal hemorrhage, Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia,...	ORPHA:509
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy, Facial hyp...	ORPHA:308552
Phace Association	Optic atrophy, Lingual thyroid, Increased retinal vascularity, Developmental cataract, Microphtha...	OMIM:606519
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal d...	ORPHA:261330
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Retinal coloboma	ORPHA:2328
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho...	ORPHA:1571
Curry-Jones Syndrome	Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:1553
Holoprosencephaly	Optic atrophy, Hypoglycemia, Chorioretinal coloboma, Abnormality of the spleen, Panhypopituitaris...	ORPHA:2162
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Biliary atresia	OMIM:615272
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Cryptorchidism, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:77298
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Biliary atresia	OMIM:115470
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Microphthalmia	OMIM:610651
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Polyhydramnios, Cardiomegaly, Pericardial effusion, Hydrops fet...	ORPHA:51608
Williams Syndrome	Cataract, Cholelithiasis, Megalocornea, Retinal arteriolar tortuosity, Type II diabetes mellitus,...	ORPHA:904
Gitelman Syndrome	Pericardial effusion, Delayed puberty, Rhabdomyolysis	ORPHA:358
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t...	OMIM:620040
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia	OMIM:616538
Developmental And Epileptic Encephalopathy 95	Cystic hygroma, Umbilical hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macrog...	OMIM:618143
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, Cryptorchidism, Microphthalmia, Sclerocornea	OMIM:614230
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Retinopathy, Cryptorchidism, Microphthalmia	ORPHA:2505
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Limb hypertonia, Thickened nuchal skin fold	OMIM:620306
Familial Idiopathic Dilatation Of The Right Atrium	Peripheral edema, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Abnorma...	ORPHA:1677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Cataract, Retinal detachment, Microphthalmia, Retinal dysplasia	OMIM:253800
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Incontinentia Pigmenti	Cataract, Keratitis, Supernumerary nipple, Microphthalmia, Retinal vascular proliferation, Eosino...	ORPHA:464
Fanconi Anemia, Complementation Group S	Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia	OMIM:617883
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, Premature...	OMIM:251260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Optic atrophy, Abnormal optic nerve morphology, Abnormality of retinal pigmentation, An...	ORPHA:2526
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea...	OMIM:261515
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Sandestig-Stefanova Syndrome	Developmental cataract, Microphthalmia	OMIM:618804
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Cystic hygroma, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Vent...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Cystic hygroma, Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Vent...	ORPHA:352665
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Elevated circulating growth...	ORPHA:97287
Rodrigues Blindness	Sclerocornea, Microcornea, Microphthalmia	OMIM:268320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elbow flexion contracture, Oligohydramnios, Increased muscle lipid conten...	OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Low posterior hairline, Cardiomegaly, T...	ORPHA:2463
Jacobsen Syndrome	Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Cryptorchidism, Macular hyp...	OMIM:147791
Branchiogenic Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	ORPHA:50815
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:181000
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Pulmonary edema, Cardiomyopathy	OMIM:105210
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia	ORPHA:2399
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne...	OMIM:601552
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:234050
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Pancreatic fibrosis, Jaundice, P...	OMIM:208500
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Delayed puberty	ORPHA:91347
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Crimean-Congo Hemorrhagic Fever	Ascites, Stiff neck, Splenomegaly, Hepatomegaly, Myocarditis, Pericardial effusion	ORPHA:99827
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly	OMIM:255120
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia	OMIM:302350
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Cryptorchidism, Corneal opacity, Microphthalmia, Sclerocornea	ORPHA:284160
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Chorioretinal dystrophy, Neut...	ORPHA:193
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatitis, Spl...	ORPHA:37042
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl...	ORPHA:3427
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Microphthalmia	OMIM:617244
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int...	ORPHA:391487
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Zttk Syndrome	Optic atrophy, Absent gallbladder	OMIM:617140
Trisomy 10P	Absent gallbladder	ORPHA:171929
Ring Chromosome 13 Syndrome	Abnormal retinal morphology, Retinoblastoma, Hypoplasia of the gallbladder	ORPHA:96176
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Neonatal hypoglycemia, Microphthalmia	ORPHA:35173
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cryptorchidism, Microphthalmia	OMIM:618494
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Azoospermia, Hepatic steatosis,...	OMIM:210900
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal heart v...	ORPHA:3384
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep...	OMIM:276700
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, Branchial fistula, Camptodactyly of finger, Palpebral edema, Ventricular septal defe...	ORPHA:261337
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab...	ORPHA:309854
Wilson Disease	Sunflower cataract, Hepatic failure, Portal fibrosis, Glycosuria, Kayser-Fleischer ring, Acute he...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Increased nuchal translucency, Partial atrioventricular canal defe...	OMIM:620066
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl...	OMIM:608594
Branchiootic Syndrome	Facial palsy, Branchial fistula	ORPHA:52429
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Branchiootorenal Syndrome 1	Facial palsy, Branchial fistula, Branchial cyst	OMIM:113650
3Q29 Microduplication Syndrome	Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope...	OMIM:613471
Bor Syndrome	Facial palsy, Branchial cyst	ORPHA:107
Cherubism	Submandibular lymph node enlargement, Optic neuropathy, Macular scar, Marcus Gunn pupil	OMIM:118400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism, Ocular anterior segment dysgenesis	ORPHA:369891
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Alagille Syndrome 1	Cataract, Microcornea, Band keratopathy, Hepatic failure, Elevated circulating hepatic transamina...	OMIM:118450
Moebius Syndrome	Decreased testicular size, Microphthalmia	OMIM:157900
Mucolipidosis Ii Alpha/Beta	Myelopathy, Arthrogryposis multiplex congenita, Umbilical hernia, Hypertrophic cardiomyopathy, Pa...	OMIM:252500
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Microphthalmia	OMIM:167730
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal mesentery morphology, Increased circulating IgE level, Increased circulat...	ORPHA:449395
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Brucellosis	Granuloma, Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis, Splenomegaly, Orchi...	ORPHA:1304
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea	OMIM:615877
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Martsolf Syndrome 1	Cataract, Cryptorchidism, Developmental cataract, Microphthalmia	OMIM:212720
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj...	OMIM:278730
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil...	ORPHA:183675
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Biliary atresia, Jaundice, Abnormal chorioretinal morphology	ORPHA:3310
Aicardi Syndrome	Optic atrophy, Cataract, Optic disc coloboma, Hepatoblastoma, Retinal detachment, Chorioretinal l...	OMIM:304050
Peters-Plus Syndrome	Cataract, Peters anomaly, Retinal coloboma, Cryptorchidism, Biliary tract abnormality, Bilobate g...	OMIM:261540
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C...	OMIM:603467
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Short stature, Macroglossia, Flexion contracture, Gener...	OMIM:230000
Alkaptonuria	Methemoglobinemia, Hemolytic anemia, Black pigment gallstones, Corneal astigmatism	ORPHA:56
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Type II diabetes melli...	OMIM:269700
Aicardi Syndrome	Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ...	ORPHA:50
Mosaic Trisomy 1	Hepatic agenesis, Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Peritonitis, Eosinophili...	ORPHA:228123
Phace Syndrome	Retinal vascular malformation, Cataract, Ectopic thyroid, Heterochromia iridis, Microphthalmia, S...	ORPHA:42775
Hydrolethalus	Anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:2189
Igg4-Related Ophthalmic Disease	Keratitis, Abnormal optic nerve morphology, Sialadenitis, Orchitis, Eosinophilia, Abnormality of ...	ORPHA:449563
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism	ORPHA:2075
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hypoplasia ...	ORPHA:436252
Joubert Syndrome 14	Optic atrophy, Morning glory anomaly, Microphthalmia	OMIM:614424
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Micro...	OMIM:206900
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Cirrhosis, Cataract	OMIM:609313
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical ...	ORPHA:3260
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea...	ORPHA:90363
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Neutrophilia, He...	OMIM:620565
Tetraamelia Syndrome 1	Microphthalmia, Asplenia, Adrenal gland agenesis, Cataract	OMIM:273395
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,...	ORPHA:100078
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Microphthalmia	ORPHA:228390
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Microphthalmia	ORPHA:404440
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Microphthalmia	OMIM:616449
Cranioectodermal Dysplasia 2	Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Poly...	OMIM:613610
Frontorhiny	Hypopituitarism, Cataract, Iris coloboma, Microphthalmia	ORPHA:391474
Focal Dermal Hypoplasia	Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Acute hepatic failure, Corneal op...	ORPHA:2092
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Monosomy 18P	Microphthalmia	ORPHA:1598
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Splenomegaly, Cryptorchidism, Microph...	OMIM:249000
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal optic nerve morphology, Abnormality of the submandibular gland...	ORPHA:79078
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Sclerocornea, Limbal dermoid	OMIM:613001
Joubert Syndrome 21	Optic atrophy, Retinopathy, Splenomegaly, Anophthalmia, Megalopapilla	OMIM:615636
Behçet Disease	Cataract, Splenomegaly, Retinopathy, Orchitis, Optic neuritis, Keratoconjunctivitis sicca, Pancre...	ORPHA:117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at...	OMIM:253280
Ritscher-Schinzel Syndrome 3	Cryptorchidism, Chorioretinal coloboma, Microphthalmia	OMIM:619135
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Pancreatitis, Hepatomegaly, Vacuolated lymphocytes, Diabetes mellitus	ORPHA:565612
Sarcoidosis	Cataract, Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Parotitis, L...	ORPHA:797
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytope...	OMIM:227645
Primary Sjögren Syndrome	Normocytic anemia, Corneal perforation, Biliary cirrhosis, Chronic active hepatitis, Parotitis, L...	ORPHA:289390
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia	OMIM:257850
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Branchial cyst, Intrauterine growth retardation, Polyhydramnios, Patent foramen oval...	OMIM:620186
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Annular pancreas, Cryptorchidism, Zonular cataract, Microphthalmia	OMIM:268400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:667
Osteoporosis-Pseudoglioma Syndrome	Cataract, Vitreoretinopathy, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Ex...	OMIM:259770
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
Ogden Syndrome	Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, ...	OMIM:300855
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Ele...	OMIM:619573
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Microphthalmia, Cryptorchidism, Anem...	OMIM:227646
Trisomy 18	Cataract, Microcornea, Abnormality of retinal pigmentation, Cryptorchidism, Microphthalmia, Iris ...	ORPHA:3380
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Meckel Syndrome 14	Hepatic fibrosis, Microphthalmia	OMIM:619879
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy, Conjunctivitis	ORPHA:32960
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Orchitis, Vaginal hydrocel...	ORPHA:2035
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Anophthalmia, Abnormal vitreous humor morpho...	ORPHA:2556
Carney Triad	Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Absent gallbladder, Optic nerve hypoplasia	ORPHA:500150
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar...	OMIM:175780
Trichothiodystrophy	Microcornea, Macular degeneration, Increased mean corpuscular hemoglobin concentration, Bilateral...	ORPHA:33364
Feingold Syndrome 1	Accessory spleen, Asplenia, Annular pancreas, Polysplenia	OMIM:164280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hepatomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hallermann-Streiff Syndrome	Cataract, Chorioretinal coloboma, Optic disc coloboma, Cryptorchidism, Microphthalmia, Iris coloboma	OMIM:234100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Cryptorchid...	OMIM:241410
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventric...	ORPHA:365
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
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, Microphthalmia, Opacification of the corneal stroma	OMIM:251300
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Megalocornea, Cryptorchidism, Rod-cone dystrophy, Microp...	OMIM:223370
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Pelvis-Shoulder Dysplasia	Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma	ORPHA:2839
Mucopolysaccharidosis Type 3	Umbilical hernia, Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morpholog...	ORPHA:581
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microp...	ORPHA:959
Familial Mediterranean Fever	Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Marden-Walker Syndrome	Cryptorchidism, Microphthalmia	OMIM:248700
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Hypoplastic nipples, Microphthalmia	OMIM:156610
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu...	ORPHA:508488
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Decreased testicular size, Congenital hypoparathyroidism, Papilledema, ...	ORPHA:93325
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Microphthalmia	OMIM:612530
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Punctate o...	OMIM:256040
Fanconi Anemia, Complementation Group E	Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocyto...	OMIM:600901
Joubert Syndrome 2	Retinal dystrophy, Chorioretinal coloboma, Optic disc coloboma, Microphthalmia	OMIM:608091
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Vacterl With Hydrocephalus	Microcornea, Abnormal optic nerve morphology, Anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:3412
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In...	OMIM:619991
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cystic hygroma, Hydranencephaly, Patent foramen ovale, Cardiomegaly, Limb hypertonia, Short statu...	OMIM:620371
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Microphthalmia	OMIM:620098
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Congenital hypertrophy of retinal pigment e...	ORPHA:733
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Treacher-Collins Syndrome	Cataract, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Thyroid hypoplasia, Iris colo...	ORPHA:861
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Neuroblastoma	Anemia, Abdominal mass, Lymphadenopathy, Thrombocytopenia	ORPHA:635
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Fanconi Anemia, Complementation Group A	Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocyto...	OMIM:227650
Cerebrooculofacioskeletal Syndrome 4	Abnormal retinal morphology, Bilateral microphthalmos	OMIM:610758
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Anophthalmia, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	OMIM:613658
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Exocrine pancreatic insufficiency, Abnormal optic disc morphology, Microphthalm...	ORPHA:508498
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri...	ORPHA:75565
1Q21.1 Microdeletion Syndrome	Cataract, Iris coloboma, Cryptorchidism, Microphthalmia	ORPHA:250989
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
2Q31.1 Microdeletion Syndrome	Iris coloboma, Cryptorchidism, Optic disc coloboma, Microphthalmia	ORPHA:251014
Monosomy 9Q22.3	Cataract, Ovarian fibroma, Retinopathy, Microphthalmia	ORPHA:77301
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Lymphedema	ORPHA:79280
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Hallermann-Streiff Syndrome	Developmental cataract, Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Peters anomaly, Cryptorchidism, Microphthalmia	OMIM:616975
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia...	OMIM:130650
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Cryptorchidism, Microphthalmia	OMIM:619148
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Fryns Syndrome	Polysplenia, Cryptorchidism, Microphthalmia, Opacification of the corneal stroma, Ectopic pancrea...	OMIM:229850
Fanconi Anemia	Cataract, Abnormality of the liver, Leukopenia, Astigmatism, Aplasia/Hypoplasia of the iris, Cryp...	ORPHA:84
Vacterl/Vater Association	Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:887
Microphthalmia, Syndromic 2	Microcornea, Anophthalmia, Cryptorchidism, Phthisis bulbi, Retinal detachment, Developmental cata...	OMIM:300166
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Corneal stromal edema, Hypermyelinated retinal nerve fibers, Corneal opacity	OMIM:601812
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia	OMIM:302960
Neuroendocrine Neoplasm Of Appendix	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, A...	ORPHA:100079
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia	ORPHA:65286
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Aplasia of the sweat glands	OMIM:612132
Fryns Syndrome	Microphthalmia, Cryptorchidism, Corneal opacity	ORPHA:2059
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy, Iris atrophy	OMIM:201180
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cryptorchidism, Microphthalmia	ORPHA:2728
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Elevated circulating hepatic transaminase concentration, H...	ORPHA:99826
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Anemia, Abnormal splee...	OMIM:619488
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Fraser Syndrome 2	Hypoplasia of the thymus, Microphthalmia	OMIM:617666
Wolf-Hirschhorn Syndrome	Optic atrophy, Abdominal situs inversus, Megalocornea, Abnormality of the gallbladder, Retinopath...	ORPHA:280
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal...	OMIM:619539
Proboscis Lateralis	Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Anophthalmia, Corneal opacity...	ORPHA:141099
Beckwith-Wiedemann Syndrome	Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasis recti, Co...	ORPHA:116
Abetalipoproteinemia	Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy	ORPHA:14
African Trypanosomiasis	Keratitis, Conjunctivitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Papilledema, Lymphad...	ORPHA:3385
Mosaic Variegated Aneuploidy Syndrome	Cataract, Ascites, Corneal opacity, Microphthalmia, Acute lymphoblastic leukemia	ORPHA:1052
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Basal Cell Nevus Syndrome 1	Cataract, Ovarian carcinoma, Ovarian fibroma, Microphthalmia, Iris coloboma	OMIM:109400
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Microcornea, Microphthalmia	OMIM:110100
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Supernumerary nipple, Iris coloboma, Microphthalmia	ORPHA:1236
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Hyperparathyroidism, Abnormal pupil morphology, Microphthalmia, Cryptorchi...	ORPHA:534
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:91387
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Myositis, Cardiomeg...	ORPHA:51
Pseudoaminopterin Syndrome	Asplenia	ORPHA:221120
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Prominent corneal nerve f...	ORPHA:653
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Kawasaki Disease	Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Conjunctival hyperemia, Thrombo...	ORPHA:2331
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma, Macroorchidism	OMIM:618874
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia	OMIM:153400
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Eruption failure, Tendon rupture, Muscle fiber...	OMIM:182250
Mycophenolate Mofetil Embryopathy	Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:268249
Smith-Lemli-Opitz Syndrome	Cataract, Optic atrophy, Abnormality of the gallbladder, Cryptorchidism, Sclerocornea, Iris colob...	ORPHA:818
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Increased nuchal translucency,...	ORPHA:3472
Fanconi Anemia, Complementation Group N	Acute myeloid leukemia, Aplastic anemia, Microphthalmia	OMIM:610832
Pseudotrisomy 13 Syndrome	Cryptorchidism, Microphthalmia	OMIM:264480
Oculodentodigital Dysplasia	Cataract, Microcornea, Microphthalmia	OMIM:164200
Ohdo Syndrome, X-Linked	Cryptorchidism, Microphthalmia	OMIM:300895
Branchiooculofacial Syndrome	Cataract, Retinal coloboma, Supernumerary nipple, Ectopic thymus tissue, Anophthalmia, Cryptorchi...	OMIM:113620
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Iris coloboma, Microphthalmia	ORPHA:2612
Bartsocas-Papas Syndrome 1	Axillary pterygium, Popliteal pterygium, Bilateral cryptorchidism, Pterygium, Microphthalmia, Opa...	OMIM:263650
Charge Syndrome	Cataract, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Retinal coloboma, Decreased r...	OMIM:214800
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Supernumerary nipple, Retinoblastoma, Cryptorchidism, Microphthalmia, Iri...	OMIM:613884
Fanconi Anemia, Complementation Group L	Anemia, Bone marrow hypocellularity, Microphthalmia	OMIM:614083
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Monosomy 13Q14	Cataract, Iris coloboma, Retinoblastoma, Microphthalmia	ORPHA:1587
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Pancreatic adenocarcinoma, P...	ORPHA:99889
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Panhypopituitar...	OMIM:146510
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Elevated circulating aspartate aminotransferase...	OMIM:619534
Roberts Syndrome	Cataract, Cryptorchidism, Thrombocytopenia, Microphthalmia	ORPHA:3103
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Cryptorchidism, Biliary tract abnormality, Corneal opacity, Microphth...	OMIM:268300
Mend Syndrome	Cataract, Cryptorchidism, Microphthalmia	ORPHA:401973
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Pericardial effus...	ORPHA:79318
Plague	Mydriasis, Lymphadenitis, Splenomegaly, Conjunctival hyperemia, Hepatomegaly, Enlarged mesenteric...	ORPHA:707
Frontofacionasal Dysplasia	Cataract, Microcornea, Iris coloboma, Microphthalmia	OMIM:229400
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	OMIM:601707
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Bosma Arhinia Microphthalmia Syndrome	Cataract, Cryptorchidism, Microphthalmia	OMIM:603457
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Microphthalmia	OMIM:616300
Microphthalmia With Limb Anomalies	Optic atrophy, True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Focal Dermal Hypoplasia	Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Supernumerary nipple, Aniridia, Anophthalm...	OMIM:305600
Systemic Lupus Erythematosus	Leukopenia, Retinopathy, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Hydrolethalus Syndrome 1	Accessory spleen, Adrenal gland dysgenesis, Microphthalmia	OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Attenuation of retinal blood vessels, Cryptorchidism, Optic disc pallor...	ORPHA:468631
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Witteveen-Kolk Syndrome	Branchial fistula, Intrauterine growth retardation, Polyhydramnios, Congenital diaphragmatic hern...	OMIM:613406
Charge Syndrome	Optic atrophy, Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, Iris colobom...	ORPHA:138
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Mic...	OMIM:157170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Antecubital pterygium, Popliteal pterygium, Cryptorchidism, Microphthalmia	OMIM:609945
Holoprosencephaly 7	Panhypopituitarism, Iris coloboma, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Holoprosencephaly-Postaxial Polydactyly Syndrome	Thyroid hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:2166
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Cryptorchidism, Microphthalmia	OMIM:616734
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Fraser Syndrome 1	Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Corneal opacity, Abnormal thymus morphology	OMIM:219000
Lowe Oculocerebrorenal Syndrome	Corneal scarring, Cryptorchidism, Dense posterior cortical cataract, Developmental cataract, Micr...	OMIM:309000
Mowat-Wilson Syndrome	Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Cryptorchi...	OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cataract, Microcornea, Optic atrophy, Ectopia pupillae, Retinal coloboma, Abnormal pupil morpholo...	ORPHA:261552
Renpenning Syndrome 1	Cataract, Decreased testicular size, Microphthalmia	OMIM:309500
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microphthalmia, Syndromic 6	Microcornea, Anophthalmia, Cryptorchidism, Microphthalmia, Sclerocornea, Anterior hypopituitarism...	OMIM:607932
Monosomy 9P	Cryptorchidism, Microphthalmia	ORPHA:261112
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Retinal coloboma, Astigmatism, Axenfeld anomaly, Cryptorchidism, Microphthalmia, Asplen...	ORPHA:261537
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia	OMIM:612474
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Fontaine Progeroid Syndrome	Absent nipple, Cryptorchidism, Left ventricular hypertrophy, Hypoplastic nipples, Microphthalmia	OMIM:612289
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly...	OMIM:164210
Mowat-Wilson Syndrome	Cataract, Retinal coloboma, Astigmatism, Axenfeld anomaly, Cryptorchidism, Microphthalmia, Asplen...	ORPHA:2152
Neu-Laxova Syndrome 1	Pterygium, Cataract, Cryptorchidism, Microphthalmia	OMIM:256520
Townes-Brocks Syndrome	Cataract, Iris coloboma, Chorioretinal coloboma, Cryptorchidism, Microphthalmia, Limbal dermoid	ORPHA:857
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pallister-Hall Syndrome	Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Decreased testicular si...	ORPHA:672
Adams-Oliver Syndrome 1	Supernumerary nipple, Microphthalmia	OMIM:100300
Microphthalmia, Syndromic 1	Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, Anophthalmia, Cr...	OMIM:309800
Fraser Syndrome	Anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:2052
Holoprosencephaly 1	Hypoglycemia, Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Abnormal parotid gland morphology, Cryptorchidism, Bilateral microphthalmos	OMIM:154500
Homozygous Familial Hypercholesterolemia	Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology	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

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Access Data Release 21.1 Data