Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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nonphotosensitive trichothiodystrophy 5 |
TTD5
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A nonphotosensitive trichothiodystrophy characteri..[+]
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photosensitive trichothiodystrophy 2 |
TTD2
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A photosensitive trichothiodystrophy that has_mate..[+]
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nonphotosensitive trichothiodystrophy 7 |
TTD7
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A nonphotosensitive trichothiodystrophy characteri..[+]
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photosensitive trichothiodystrophy 3 |
A photosensitive trichothiodystrophy that has_mate..[+]
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nonphotosensitive trichothiodystrophy 6 |
TTD6
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A nonphotosensitive trichothiodystrophy that has_m..[+]
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photosensitive trichothiodystrophy 1 |
TTD1
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A photosensitive trichothiodystrophy that has_mate..[+]
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Sabinas brittle hair syndrome |
trichothiodystrophy type B; brittle hair-mental de..
[+]
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A nonphotosensitive trichothiodystrophy characteri..[+]
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X-linked thrombophilia due to factor IX defect |
THPH8
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A thrombophilia characterized by normal levels of ..[+]
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autosomal dominant thrombophilia due to protein S deficiency |
THPH5
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A protein S deficiency characterized by reduced se..[+]
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heparin cofactor II deficiency |
thrombophilia due to heparin cofactor II deficienc..
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A thrombophilia characterized by increased risk of..[+]
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autosomal recessive thrombophilia due to protein C deficiency |
THPH4; autosomal recessive PROC deficiency; autoso..
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A protein C deficiency characterized by typically ..[+]
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autosomal recessive thrombophilia due to protein S deficiency |
THPH6; autosomal recessive thrombophilia due to co..
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A protein S deficiency characterized by thrombosis..[+]
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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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syndactyly-telecanthus-anogenital and renal malformations syndrome |
toe syndactyly, telecanthus, and anogenital and re..
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A syndrome characterized by toe syndactyly, teleca..[+]
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immunodeficiency 46 |
TFRC-related combined immunodeficiency; CID due to..
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A combined T cell and B cell immunodeficiency char..[+]
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immunodeficiency 7 |
TCR-alpha-beta-positive T-cell deficiency; IMD7; i..
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A T cell deficiency characterized by decreased or ..[+]
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immunodeficiency 35 |
A primary immunodeficiency disease characterized b..[+]
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X-Linked immunodeficiency 74 |
TLR7 deficiency; IMD74; respiratory insufficiency ..
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A T cell deficiency characterized by severe respir..[+]
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mismatch repair cancer syndrome |
Turcot syndrome; brain tumor-polyposis syndrome 1; ..
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A syndrome characterized by predisposition for dev..[+]
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Filippi syndrome |
type 1 syndactyly-microcephaly-intellectual disabi..
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A syndrome characterized by short stature, microce..[+]
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BH4-deficient hyperphenylalaninemia B |
tetrahydrobiopterin-deficient hyperphenylalaninemi..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
Tattoo dysplasia; Fantasy Island syndrome; SED-bra..
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A spondyloepiphyseal dysplasia characterized by sp..[+]
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