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DOID DOID:2729
Name dyskeratosis congenita
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.
http://en.wikipedia.org/wiki/Dyskeratosis_congenita, http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita
Xrefs

GARD:10905

MESH:D019871

NCI:C111802

OMIM:PS127550

ORDO:1775

SNOMEDCT_US_2018_03_01:74911008

UMLS_CUI:C0265965

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DO_rare_slim

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is_a skin disease

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