Preferred Name | dyskeratosis congenita | |
Synonyms |
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Definitions |
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. Xref MGI. OMIM mapping by NeuroDevNet. [LS]. |
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ID |
http://purl.obolibrary.org/obo/DOID_2729 |
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comment |
Xref MGI. OMIM mapping by NeuroDevNet. [LS]. |
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database_cross_reference |
MESH:D019871 NCI:C111802 UMLS_CUI:C0265965 SNOMEDCT_US_2020_03_01:74911008 OMIM:PS127550 GARD:10905 ORDO:1775 |
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has_obo_namespace |
disease_ontology |
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id |
DOID:2729 |
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imported from | ||
in_subset | ||
label |
dyskeratosis congenita |
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notation |
DOID:2729 |
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prefLabel |
dyskeratosis congenita |
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textual 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. |
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subClassOf |
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