Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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congenital nongoitrous hypothryoidism 1 |
TSH resistance; CHNG1
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A congenital hypothyroidism that has_material_basi..[+]
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Y-linked spermatogenic failure 1 |
type I Sertoli cell-only syndrome; SPGFY1; Y-linke..
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A Sertoli cell-only syndrome that has_material_bas..[+]
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nonsyndromic congenital nail disorder 1 |
twenty-nail dystrophy
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n_a
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congenital fibrosis of the extraocular muscles |
Tukel syndrome
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An ocular motility disease that is characterized b..[+]
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esophageal atresia/tracheoesophageal fistula |
tracheoesophageal fistula with or without esohagea..
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A gastrointestinal system disease that is characte..[+]
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superior semicircular canal dehiscence |
third mobile window syndrome; canal dehiscence syn..
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An inner ear disease characterized by dehiscence i..[+]
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craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome |
TMCO1 defect syndrome; Cerebro-facio-thoracic dysp..
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A syndrome that is characterized by abnormal devel..[+]
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Graves ophthalmopathy |
An autoimmune disease of eyes, ear, nose and throa..[+]
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BH4-deficient hyperphenylalaninemia D |
tetrahydrobiopterin (BH4)-deficient hyperphenylala..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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autosomal dominant familial periodic fever |
tumor necrosis factor receptor 1 associated period..
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A characterized by autosomal dominant inheritance ..[+]
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corticosteroid-binding globulin deficiency |
transcortin deficiency; CBG deficiency
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An adrenal gland disease characterized by decrease..[+]
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Bh4-deficient hyperphenylalaninemia A |
tetrahydobioperin-deficient hyperphenylalaninemia ..
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An amino acid metabolic disorder characterized by ..[+]
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cataract 44 |
total early-onset cataract; CTRCT44
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A cataract that has_material_basis_in homozygous m..[+]
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hypotrichosis 7 |
total Mari type hypotrichosis,; hypotrichosis, loc..
[+]
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A hypotrichosis that has_material_basis_in a autos..[+]
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brachydactyly type A4 |
Temtamy type brachydactyly; BDA4; brachymesophalan..
[+]
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A brachydactyly characterized by autosomal dominan..[+]
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hemochromatosis type 3 |
TFR2-related hemochromatosis; hemochromatosis due ..
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A hemochromatosis that has_material_basis_in homoz..[+]
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platelet-type bleeding disorder 14 |
thromboxane synthase deficiency; BDPLT14
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A blood platelet disease characterized by autosoma..[+]
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hyperphosphatemic familial tumoral calcinosis |
tumoral calcinosis with hyperphosphatemia; cortica..
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A calcinosis characterized by autosomal recessive ..[+]
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congenital bile acid synthesis defect 4 |
trihydroxycoprostanic acid in bile; CBAS4; intrahe..
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A congenital bile acid synthesis defect characteri..[+]
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congenital generalized lipodystrophy type 2 |
total lipodystrophy and acromegaloid gigantism; Be..
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A congenital generalized lipodystrophy that has_ma..[+]
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hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
telangiectatic membranoproliferative glomeruloneph..
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A syndrome characterized by onset in childhood of ..[+]
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X-linked thrombocytopenia with beta-thalassemia |
thrombocytopenia, platelet dysfunction, hemolysis,..
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A hematopoietic system disease characterized by va..[+]
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photosensitive trichothiodystrophy 3 |
A photosensitive trichothiodystrophy that has_mate..[+]
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photosensitive trichothiodystrophy 1 |
TTD1
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A photosensitive trichothiodystrophy that has_mate..[+]
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autosomal dominant thrombophilia due to protein C deficiency |
THPH3; autosomal dominant PROC deficiency; autosom..
[+]
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A thrombophilia characterized by reduced serum lev..[+]
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
Tattoo dysplasia; Fantasy Island syndrome; SED-BDS..
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A spondyloepiphyseal dysplasia characterized by sp..[+]
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