Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Fanconi anemia complementation group D2

Synonyms

FANCD2

Definitions

(FANCD2) - A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

ID

http://identifiers.org/omim/227646

altLabel

FANCD2

definition

(FANCD2) - A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

id

OMIM:227646

notation

OMIM:227646

prefLabel

Fanconi anemia complementation group D2

subClassOf

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

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