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Dyskeratosis Congenita

Disease ID: disease_node_10031

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DbxrefGARD:10905, MESH:D019871, MIM:PS127550, NCI:C111802, ORDO:1775, SNOMEDCT_US_2023_03_01:74911008, UMLS_CUI:C0265965
SubclassofDOID_37, DOID_0080578
Data SourceDOID, MESH
SynonymsDKCD
Mesh IdD019871
Mesh LabelDyskeratosis Congenita
Mesh SubclassofD040181, D000080984, D012868, D012873
Doid Labeldyskeratosis congenita
Doid DescriptionA 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. Xref MGI. OMIM mapping by NeuroDevNet. [LS].
Has Material Basis InGENO_0000930
Disease Node Iddisease_node_10031
Doid IdDOID_2729
LabelDyskeratosis Congenita