Online Mendelian Inheritance in Man - FANCONI ANEMIA, COMPLEMENTATION GROUP A - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/227650 http://purl.bioontology.org/ontology/OMIM/227650
Preferred Name	FANCONI ANEMIA, COMPLEMENTATION GROUP A
Synonyms	FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA FANCONI ANEMIA ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA FA FANCA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA FANCONI ANEMIA ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA FA FANCA See more See less
prefLabel	FANCONI ANEMIA, COMPLEMENTATION GROUP A
Gene Symbol	FANCA FACA FA FA1 FAA
Scope Statement	Caused by mutation in the Fanconi anemia, complementation group A gene (FANCA, 607139.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001686 http://purl.bioontology.org/ontology/OMIM/MTHU003459 http://purl.bioontology.org/ontology/OMIM/MTHU053655 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU009001 http://purl.bioontology.org/ontology/OMIM/MTHU001136 http://purl.bioontology.org/ontology/OMIM/MTHU049774 http://purl.bioontology.org/ontology/OMIM/MTHU053646 http://purl.bioontology.org/ontology/OMIM/MTHU036549 http://purl.bioontology.org/ontology/OMIM/MTHU001427 http://purl.bioontology.org/ontology/OMIM/MTHU053649 http://purl.bioontology.org/ontology/OMIM/MTHU055533 http://purl.bioontology.org/ontology/OMIM/MTHU053648 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU010007 http://purl.bioontology.org/ontology/OMIM/MTHU062305 http://purl.bioontology.org/ontology/OMIM/MTHU053645 http://purl.bioontology.org/ontology/OMIM/MTHU000565 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU006613 http://purl.bioontology.org/ontology/OMIM/MTHU053652 http://purl.bioontology.org/ontology/OMIM/MTHU004828 http://purl.bioontology.org/ontology/OMIM/MTHU053647 http://purl.bioontology.org/ontology/OMIM/MTHU034183 http://purl.bioontology.org/ontology/OMIM/MTHU000816 http://purl.bioontology.org/ontology/OMIM/MTHU012071 http://purl.bioontology.org/ontology/OMIM/MTHU049773 http://purl.bioontology.org/ontology/OMIM/MTHU002823 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU053650 http://purl.bioontology.org/ontology/OMIM/MTHU053651 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU039307 http://purl.bioontology.org/ontology/OMIM/MTHU053654 http://purl.bioontology.org/ontology/OMIM/MTHU008966 http://purl.bioontology.org/ontology/OMIM/MTHU053653 http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU008662 See more See less
tui	T047
Gene Locus	16q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	227650
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1856797 C3469521 C1856796
Moved from	603468
OMIM Entry Type	3
OMIM MimType Value	pound

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