JSON

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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN653908 (MONDO:equivalentTo)
  • OMIM:227650 (MONDO:equivalentTo)
  • EFO:0009044 (MONDO:equivalentTo)
  • GTR:AN1051558 (UMLS:CN653908)
  • NCIT:C125702 (MONDO:equivalentTo)
  • DOID:0111095 (MONDO:equivalentTo)
abbreviation
FANCA [ DOID:0111095 https://omim.org/entry/227650 MONDO:Lexical ]

closeMatch

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

http://linkedlifedata.com/resource/umls/id/C1856797

http://linkedlifedata.com/resource/umls/id/C1856796

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

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.

exactMatch

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

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

http://identifiers.org/omim/227650

http://linkedlifedata.com/resource/umls/id/CN653908

has exact synonym

Fanconi Anemia, complementation group type a

Fanconi anemia caused by mutation in FANCA

FANCA

FANCA Fanconi anemia

Fanconi anemia complementation group type A

has related synonym

Fanconi Anemia, Estren-Dameshek variant

Fanconi anemia, complementation group A

Fanconi Anemia

Estren-Dameshek variant of Fanconi pancytopenia

Estren-Dameshek variant of Fanconi Anemia

id

MONDO:0009215