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DOID:2729 - dyskeratosis congenita
Disease Ontology 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.
Synonyms: DKCD
Xenbase Genes
:
usb1,
nhp2,
nop10,
parn,
npm1,
tinf2,
dkc1,
wrap53,
rtel1,
tert,
ctc1,
terc
| MONDO:0015780 - dyskeratosis congenita |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
digenic disease (is_a),
skin disease (is_a)