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| Term | dyskeratosis congenita | ID (Ontology) | DOID:2729 (Human Disease) |
| Definition | A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. | ||
| Also Known As | "DKCD" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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polygenic disease |__digenic disease___________ integumentary system disease | |__skin disease______________| dyskeratosis congenita 14 rec. |__autosomal dominant dyskeratosis congenita 1 |__autosomal dominant dyskeratosis congenita 2 |__autosomal dominant dyskeratosis congenita 3 |__autosomal dominant dyskeratosis congenita 4 |__autosomal dominant dyskeratosis congenita 6 |__autosomal recessive dyskeratosis congenita 1 1 rec. |__autosomal recessive dyskeratosis congenita 2 1 rec. |__autosomal recessive dyskeratosis congenita 3 1 rec. |__autosomal recessive dyskeratosis congenita 4 |__autosomal recessive dyskeratosis congenita 5 1 rec. |__autosomal recessive dyskeratosis congenita 6 |__digenic dyskeratosis congenita 1 rec. |__Revesz syndrome |__X-linked dyskeratosis congenita 7 rec. |
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digenic disease skin disease |
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GARD:10905 MESH:D019871 MIM:PS127550 NCI:C111802 ORDO:1775 SNOMEDCT_US_2023_03_01:74911008 UMLS_CUI:C0265965 |
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