Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Fanconi anemia complementation group D1

Synonyms

FAD1

Definitions

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

ID

http://purl.obolibrary.org/obo/DOID_0111089

database_cross_reference

OMIM:605724

definition

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

has exact synonym

FAD1

FANCD1

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0111089

label

Fanconi anemia complementation group D1

notation

DOID:0111089

prefLabel

Fanconi anemia complementation group D1

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050737

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http://purl.bioontology.org/ontology/MESH/C563980 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/605724 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125705 National Cancer Institute Thesaurus LOOM