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Fanconi anemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0019391

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. [ Orphanet:84 ]

Synonyms: Fanconi pancytopenia pancytopenia, congenital Fanconi anemia Panmyelopathy, Fanconi Fanconi's anaemia primary erythroid hypoplasia Fanconi's anemia Fanconi panmyelopathy

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:6425 (Orphanet:84)
  • UMLS:C0015625 (Orphanet:84/e)
  • MedDRA:10055206 (Orphanet:84/e)
  • DOID:13636 (MONDO:equivalentTo)
  • Orphanet:84 (MONDO:equivalentTo)
  • MESH:D005199 (Orphanet:84/e)
  • SCTID:30575002 (MONDO:equivalentTo)
  • OMIMPS:227650 (MONDO:equivalentTo)
  • NCIT:C62505 (MONDO:equivalentTo)
  • NORD:1132 (MONDO:NORD)
  • ICD9:284.09 (MONDO:relatedTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10055206

exactMatch

http://identifiers.org/snomedct/30575002

http://purl.obolibrary.org/obo/NCIT_C62505

http://linkedlifedata.com/resource/umls/id/C0015625

http://identifiers.org/mesh/D005199

http://www.orpha.net/ORDO/Orphanet_84

http://purl.obolibrary.org/obo/DOID_13636

https://omim.org/phenotypicSeries/PS227650

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019289

id

MONDO:0019391

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0019391