| Metadata | |
|---|---|
| ID | 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://ghr.nlm.nih.gov/condition/dyskeratosis-congenita, http://en.wikipedia.org/wiki/Dyskeratosis_congenita |
| Xrefs |
SNOMEDCT_US_2023_03_01:74911008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
DKCD [EXACT] |
| Parent Relationships |
is_a digenic disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |