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Gene: Id3 MGI:96398

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Gene Summary

Name:
inhibitor of DNA binding 3
Synonyms:
bHLHb25,  Idb3,  HLH462

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased startle reflex Id3em1(IMPC)Mbp HOM Early adult 6.01×10-08
abnormal brain morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Id3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Id3em1(IMPC)Mbp HOM Early adult 5.38×10-06
small kidney Id3em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Id3em1(IMPC)Mbp HOM   Early adult 4.75×10-06
preweaning lethality, incomplete penetrance Id3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal spleen morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Id3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Id3em1(IMPC)Mbp HOM   Early adult 9.79×10-06
small testis Id3em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Id3em1(IMPC)Mbp HOM Early adult 0.00
small liver Id3em1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Id3em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Id3 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.

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

The table below shows human diseases predicted to be associated to Id3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 40
Lymphopenia OMIM:616433
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Dysphagia, Achalasia, Alacrima OMIM:300858
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Alacrima, Congenital, Autosomal Recessive
Alacrima OMIM:601549
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Myeloma, Multiple
Paraproteinemia OMIM:254500
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora, Conjunctival hyperemia OMIM:148200
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Alacrima, Congenital, Autosomal Dominant
Alacrima, Decreased lacrimation OMIM:103420
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima, Gastroesophageal reflux OMIM:608088
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Corneal Dystrophy, Meesmann, 1
Epiphora OMIM:122100
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Decreased lacrimation, Hypohidrosis, Recurrent skin infections OMIM:616488
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Diarrhea, Myosi... ORPHA:39812
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Lacrimal Duct Defect
Sinusitis, Epiphora, Periorbital edema, Conjunctivitis, Dacryocystocele OMIM:149700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:615559
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Lacrimation abnormality, Hypohidrosis ORPHA:1882
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Sunct Syndrome
Epiphora, Facial edema, Increased tear production, Palpebral edema, Vomiting, Nausea, Episodic hy... ORPHA:57145
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Helix Syndrome
Alacrima, Xerostomia, Hypohidrosis, Anhidrosis, Hyperparathyroidism OMIM:617671
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Punctate keratitis, Lacrimation abnormality ORPHA:70476
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia OMIM:613501
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Decreased lacrimation, Conjunctivitis OMIM:242150
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Alacrima ORPHA:91416
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Achalasia, Alacrima ORPHA:289483
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Kilquist Syndrome
Xerostomia, Chronic constipation, Gastroesophageal reflux, Alacrima OMIM:619080
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Decreased lacrimation, Conjunctival hyperemia ORPHA:240071
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctiviti... OMIM:270150
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Oligohydramnios, Decreased lacrimation, Hypohidrosis OMIM:613451
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... OMIM:613313
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Cockayne Syndrome Type 1
Diarrhea, Hypohidrosis, Decreased lacrimation, Uveitis, Cryptorchidism, Conjunctivitis ORPHA:90321
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Decreased circulating cortisol level, Alacrima, Adrenoco... OMIM:231550
Nanophthalmos 2
Microphthalmia OMIM:609549
Limbal Stem Cell Deficiency
Keratitis, Lacrimation abnormality, Epiphora, Conjunctival hyperemia ORPHA:171673
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... ORPHA:2470
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Paroxysmal Hemicrania
Palpebral edema, Rhinitis, Epiphora, Conjunctival hyperemia ORPHA:157835
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Microphthalmia, Anemia, L... ORPHA:858
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic failure, Splenomegaly, Tremor, Hepatic fibrosis OMIM:616719
Mu-Heavy Chain Disease
Anemia, Lymphadenopathy, Abnormal B cell count, Splenomegaly ORPHA:100024
Chondroectodermal Dysplasia With Night Blindness
Epiphora, Hyperhidrosis, Otitis media ORPHA:319195
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Alacrima, Lacrimal duct stenosis, Conjunctivitis OMIM:615560
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal stromal edema, Epiphora ORPHA:137599
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypogonadism ORPHA:141333
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ileus, Alacrima, Hypohidrosis, Decreased lacrimation, Cryptorchidism OMIM:609136
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Constipation, Gastroesophageal reflux, Alacrima, Diarrhea, Vomiting, Episodic hyperhidrosis OMIM:223900
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Congenital Fibrinogen Deficiency
Opisthotonus, Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagi... ORPHA:335
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Intention tremor, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Az... OMIM:602390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Hypogonadism OMIM:608540
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Abnormality of humoral immunity ORPHA:277
Stuve-Wiedemann Syndrome 1
Dysphagia, Decreased lacrimation, Oligohydramnios, Hyperhidrosis OMIM:601559
Achalasia, Familial Esophageal
Achalasia, Rheumatoid arthritis, Keratoconjunctivitis sicca, Xerostomia OMIM:200400
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthal... ORPHA:290
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Kimura Disease
Increased circulating IgE level ORPHA:482
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... OMIM:271500
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... OMIM:618534
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Decreased lacrimation, Constipation, Hypohidrosis ORPHA:163746
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Joubert Syndrome 37
Hepatomegaly, Microphthalmia, Micropenis, Decreased testicular size, Hydronephrosis, Cryptorchidism OMIM:619185
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Alacrima, Hypohidrosis, Dysphagia, Achalasia OMIM:615510
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Alacrim... OMIM:619004
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia OMIM:615524
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... OMIM:300853
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Ascites, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality, Cryptorchidism ORPHA:1252
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Familial Dysautonomia
Alacrima, Gastroesophageal reflux, Hyperhidrosis, Hypohidrosis ORPHA:1764
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Cervical lymphadenopathy, Hepatospl... ORPHA:2442
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia OMIM:612126
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... OMIM:616860
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Nasolacrimal Duct Cyst
Epiphora, Chronic irritative conjunctivitis, Nasolacrimal duct obstruction, Periorbital edema, Da... ORPHA:141083
Neurotrophic Keratopathy
Corneal stromal edema, Lacrimation abnormality, Anterior uveitis ORPHA:137596
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Trisomy 8P
Annular pancreas, Constipation, Aplasia/Hypoplasia of the gallbladder, Decreased lacrimation, Cry... ORPHA:264450
Bresek Syndrome
Optic nerve hypoplasia, Neonatal death, Renal hypoplasia, Decreased testicular size, Microphthalm... ORPHA:85284
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Lacrimal... ORPHA:572333
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... ORPHA:465508
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Hy... ORPHA:293987
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Alacrima, Gastroesophageal reflux, Hyperhidrosis OMIM:614653
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Cockayne Syndrome
Gastroesophageal reflux, Cryptorchidism, Alacrima, Decreased lacrimation, Anhidrosis, Malar rash,... ORPHA:191
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... OMIM:612526
Cockayne Syndrome B
Cryptorchidism, Anhidrosis, Decreased lacrimation OMIM:133540
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Cockayne Syndrome A
Cryptorchidism, Anhidrosis, Decreased lacrimation OMIM:216400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia OMIM:278780
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased lacrimation, Chronic constipation, Impaired oropharyngeal swallow response, Impaired or... ORPHA:404454
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Micropenis OMIM:602342
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia OMIM:602361
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Abnormal renal physiology, Hepatosp... ORPHA:158057
Nanophthalmos
Microphthalmia ORPHA:35612
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Nephropathy, Tremor, Ascites ORPHA:87876
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Choreoathetosis, Renal insufficiency, Neutropenia, Anem... ORPHA:79312
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Johanson-Blizzard Syndrome
Lacrimation abnormality, Exocrine pancreatic insufficiency, Edema ORPHA:2315
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Alacrima, Cryptorchidism, Chronic constipation, Chronic diarrhea OMIM:619005
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Renal insufficiency, T... ORPHA:108
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Alacrima, Achalasia, Esophagitis OMIM:615356
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia, Microphthalmia OMIM:600118
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Abnormal B c... ORPHA:331206
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia, Dystonia, Micropenis OMIM:308350
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Epiphora ORPHA:293381
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Anophthalmia, Microphthalmia OMIM:221950
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Hepatomegaly, Microphthalmia OMIM:619053
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Alacrima, Polyhydramnios OMIM:618548
Subcorneal Pustular Dermatosis
Systemic lupus erythematosus, Pustule, Hyperthyroidism, Rheumatoid arthritis, Hypothyroidism, Aut... ORPHA:48377
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism ORPHA:363741
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgA level... OMIM:619652
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Mucoepithelial Dysplasia, Hereditary
Melena, Epiphora, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneumonia, P... OMIM:158310
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Congenital Disorder Of Deglycosylation 1
Impaired oropharyngeal swallow response, Alacrima, Impaired oral bolus formation, Anhidrosis, Hyp... OMIM:615273
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Nodular goite... ORPHA:64744
Erythermalgia, Primary
Constipation, Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Hyperhidrosis OMIM:133020
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Athetosis, Proteinuria, Ascites ORPHA:834
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... OMIM:216360
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... OMIM:609981
Branchiootorenal Syndrome 1
Lacrimation abnormality, Lacrimal duct stenosis, Gustatory lacrimation, Euthyroid goiter OMIM:113650
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruati... ORPHA:370
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora, Conjunctival hyperemia OMIM:167730
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Microphthalmia OMIM:617914
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613489
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Hydroureter, Thrombocytopenia, Hypothyroidism, Tremor, ... OMIM:222300
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:257200
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Abnormality of the... ORPHA:905
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Eec Syndrome
Keratitis, Blepharitis, Decreased response to growth hormone stimulation test, Hypoplasia of the ... ORPHA:1896
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level OMIM:243700
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Abnormality of the spleen, Neonatal death, Pancytopenia, Thrombocytop... ORPHA:85212
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Lacrimal gland aplasia, Xerostomia OMIM:180920
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst, Microphthalmia OMIM:611561
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Cutaneous anergy, Abnormality of B ce... OMIM:600802
Trisomy 13
Abnormality of the ureter, Anophthalmia, Multiple renal cysts, Abnormal morphology of female inte... ORPHA:3378
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormall... ORPHA:1655
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Diarrhea, Keratoconjunctivitis sicca... OMIM:617321
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Wolman Disease
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure, Anemia... ORPHA:75233
Waardenburg Syndrome Type 1
Lacrimation abnormality ORPHA:894
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Meckel Syndrome
Urethral atresia, Male pseudohermaphroditism, Pancreatic fibrosis, Multicystic kidney dysplasia, ... ORPHA:564
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility OMIM:313200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia ORPHA:195
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Microphthalmia ORPHA:2547
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Lacrimation abnormality ORPHA:98973
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Buphthalmos, Congenital hypothyroidism, Cholestasis, Pancreatic hypop... OMIM:610199
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Carcinoid Syndrome
Epiphora, Protracted diarrhea ORPHA:100093
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Ornithine Transcarbamylase Deficiency
Hepatic failure, Aminoaciduria, Splenomegaly ORPHA:664
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia, Biliary tract abnormality ORPHA:3191
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... OMIM:308750
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Adiposis Dolorosa
Constipation, Recurrent skin infections, Xerostomia, Diarrhea, Arthritis, Hypothyroidism, Autoimm... ORPHA:36397
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal liver lobulation, Multiple renal cysts, Abnormal fallopian tube mor... ORPHA:99776
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... ORPHA:507
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level ORPHA:275
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Myog... ORPHA:264580
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Cardiomegaly, Microphthalmia OMIM:618652
Fanconi Anemia, Complementation Group I
Microphthalmia, Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Hy... OMIM:609053
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Primary amenor... ORPHA:79083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Clit... OMIM:614866
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality ORPHA:2916
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Agammaglobulinemia 9, Autosomal Recessive
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