Preferred Name |
dyskeratosis congenita |
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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. |
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ID |
http://purl.obolibrary.org/obo/DOID_2729 |
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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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imported from | ||
label |
dyskeratosis congenita |
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prefixIRI |
DOID:2729 |
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prefLabel |
dyskeratosis congenita |
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subClassOf |
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