Fanconi anemia, complementation group w

Preferred Label : Fanconi anemia, complementation group w;

Symbol : FANCW;

CISMeF acronym : FANCW;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ring finger and WD repeat domains-containing protein 3 gene (RFWD3, 614151.0001);

Laboratory abnormalities : Patient cells show hypersensitivity to DNA cross-linking agents;

Prefixed ID : #617784;

Détails

Origin ID

617784;

UMLS CUI

C4521564;

Automatic exact mappings (from CISMeF team)
- RFWD3 wt Allele [NCIt concept]
- ring finger and WD repeat domain 3 [ORDO Gene]
- ring finger and WD repeat domain 3 [HGNC gene]
Genes related to phenotype
- Ring finger and wd repeat domains-containing protein 3 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Abnormality of radial ray [HPO term]
- Absent thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chiari malformation [HPO term]
- Congenital onset [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Duodenal atresia [HPO term]
- Growth delay [HPO term]
- Hypoplasia of the radius [HPO term]
- Intrauterine growth retardation [HPO term]
- Megakaryocyte dysplasia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Myelodysplasia [HPO term]
- Polysplenia [HPO term]
- Renal hypoplasia [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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