Fanconi anemia complementation group D1
Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13
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Fanconi anemia complementation group D1
Summary
Fanconi anemia complementation group D1 is a developmental defect during embryogenesis[1].
Key Facts
- Fanconi anemia complementation group D1's instance of is recorded as developmental defect during embryogenesis[2].
- Fanconi anemia complementation group D1's instance of is recorded as rare disease[3].
- Fanconi anemia complementation group D1's instance of is recorded as class of disease[4].
- Fanconi anemia complementation group D1's subclass of is recorded as Fanconi anemia[5].
- Fanconi anemia complementation group D1's subclass of is recorded as genetic disease[6].
- Fanconi anemia complementation group D1's subclass of is recorded as autosomal recessive disease[7].
- Fanconi anemia complementation group D1's MeSH descriptor ID is recorded as C563980[8].
- Fanconi anemia complementation group D1's OMIM ID is recorded as 605724[9].
- Fanconi anemia complementation group D1's Disease Ontology ID is recorded as DOID:0111089[10].
- Fanconi anemia complementation group D1's Orphanet ID is recorded as 319462[11].
- Fanconi anemia complementation group D1's NCI Thesaurus ID is recorded as C125705[12].
- Fanconi anemia complementation group D1's genetic association is recorded as BRCA2[13].
- Fanconi anemia complementation group D1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111089[14].
- Fanconi anemia complementation group D1's exact match is recorded as http://identifiers.org/doid/DOID:0111089[15].
- Fanconi anemia complementation group D1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_319462[16].
- Fanconi anemia complementation group D1's UMLS CUI is recorded as C1838457[17].
- Fanconi anemia complementation group D1's UMLS CUI is recorded as C4707792[18].
- Fanconi anemia complementation group D1's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
- Fanconi anemia complementation group D1's Mondo ID is recorded as MONDO_0011584[20].
- Fanconi anemia complementation group D1's UniProt disease ID is recorded as DI-01601[21].