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DO Term : dyskeratosis congenita [DOID:2729] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • DKCD,
  • GARD:10905,
  • PS127550,
  • UMLS_CUI:C0265965,
  • MESH:D019871,
  • NCI:C111802,
  • SNOMEDCT_US_2023_03_01:74911008,
  • ORDO:1775,
  • OMIM:PS127550
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents