Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Synonyms	FAD1
ID	http://purl.bioontology.org/ontology/OMIM/605724
altLabel	FAD1 FANCD1
cui	C1838457
Gene Locus	13q12.3
Gene Symbol	BROVCA2 PNCA2 FANCD1 GLM3 BRCA2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU049771 http://purl.bioontology.org/ontology/OMIM/MTHU049777 http://purl.bioontology.org/ontology/OMIM/MTHU049775 http://purl.bioontology.org/ontology/OMIM/MTHU008968 http://purl.bioontology.org/ontology/OMIM/MTHU001560 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU049774 http://purl.bioontology.org/ontology/OMIM/MTHU049772 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU049770 http://purl.bioontology.org/ontology/OMIM/MTHU049776 http://purl.bioontology.org/ontology/OMIM/MTHU036682 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU009585 http://purl.bioontology.org/ontology/OMIM/MTHU001447 http://purl.bioontology.org/ontology/OMIM/MTHU049769 http://purl.bioontology.org/ontology/OMIM/MTHU049773
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605724
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FANCONI ANEMIA, COMPLEMENTATION GROUP D1
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563980	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563980	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0111089	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125705	National Cancer Institute Thesaurus	LOOM