Fanconi anemia, complementation group r

Preferred Label : Fanconi anemia, complementation group r;

Symbol : FANCR;

CISMeF acronym : FANCR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAD51 recombinase gene (RAD51, 179617.0005);

Laboratory abnormalities : Chromosome instability; Increased chromosomal breakage and in response to DNA crosslinking agents; Defective DNA repair of interstrand crosslinks;

Prefixed ID : #617244;

Détails

Origin ID

617244;

UMLS CUI

C4284093;

Automatic exact mappings (from CISMeF team)
- Fanconi anemia complementation group R [DO Concept]
- RAD51 recombinase [ORDO Gene]
- RAD51 recombinase [HGNC gene]
- RAD51 wt Allele [NCIt concept]
DO Cross reference
- Fanconi anemia complementation group R [DO Concept]
Genes related to phenotype
- Rad51 recombinase [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Growth delay [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
Not associated HPO term(s)
- Anemia [HPO term]
- Bone marrow hypocellularity [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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