Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Dyskeratosis congenita, X-linked
Synonyms

DKCX
Definitions

(DKCX) - A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. - (HHS) - A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
ID

http://identifiers.org/omim/305000
altLabel

DKCX
definition

(DKCX) - A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. - (HHS) - A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
id

OMIM:305000
notation

OMIM:305000
prefLabel

Dyskeratosis congenita, X-linked
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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