loading...| Preferred Name |
dyskeratosis congenita |
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| Synonyms |
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| Definitions |
Xref MGI. OMIM mapping by NeuroDevNet. [LS]. 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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| comment |
Xref MGI. OMIM mapping by NeuroDevNet. [LS]. |
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| database_cross_reference |
ORDO:1775 GARD:10905 MESH:D019871 SNOMEDCT_US_2021_09_01:74911008 OMIM:PS127550 NCI:C111802 UMLS_CUI:C0265965 |
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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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| has_obo_namespace |
disease_ontology |
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| IAO_0000115 |
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 |
DOID:2729 |
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| in_subset | ||
| label |
dyskeratosis congenita |
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| notation |
DOID:2729 |
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| prefLabel |
dyskeratosis congenita |
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| subClassOf |