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Fanconi anemia complementation group A

Go to external page http://purl.obolibrary.org/obo/MONDO_0009215

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. [ NCIT:C125702 ]

Synonyms: FANCA Fanconi anaemia Fanconi Anemia, complementation group type a Fanconi anemia caused by mutation in FANCA Fanconi anaemia caused by mutation in FANCA FANCA Fanconi anemia complementation group A FANCA Fanconi anemia Fanconi anemia complementation group type A Fanconi anaemia complementation group type A

This is just here as a test because I lose it

Term information

database cross reference
  • GTR:AN1051558
  • GARD:15170 (OMIM:227650)
  • UMLS:C3469521 (OMIM:227650)
  • OMIM:227650 (MONDO:equivalentTo)
  • NCIT:C125702 (MONDO:equivalentTo)
  • EFO:0009044 (MONDO:equivalentTo)
  • DOID:0111095 (MONDO:equivalentTo)
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://linkedlifedata.com/resource/umls/id/C3469521

http://purl.obolibrary.org/obo/DOID_0111095

http://purl.obolibrary.org/obo/NCIT_C125702

https://omim.org/entry/227650

has related synonym

Fanconi Anemia, Estren-Dameshek variant

Fanconi anemia, complementation group A

Fanconi Anaemia

Fanconi Anemia

Estren-Dameshek variant of Fanconi Anaemia

Estren-Dameshek variant of Fanconi pancytopenia

Estren-Dameshek variant of Fanconi Anemia

id

MONDO:0009215

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009215