Fanconi anemia complementation group J
Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22
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Fanconi anemia complementation group J
Summary
Fanconi anemia complementation group J is a developmental defect during embryogenesis[1].
Key Facts
- Fanconi anemia complementation group J's instance of is recorded as developmental defect during embryogenesis[2].
- Fanconi anemia complementation group J's instance of is recorded as rare disease[3].
- Fanconi anemia complementation group J's instance of is recorded as class of disease[4].
- Fanconi anemia complementation group J's subclass of is recorded as Fanconi anemia[5].
- Fanconi anemia complementation group J's subclass of is recorded as genetic disease[6].
- Fanconi anemia complementation group J's subclass of is recorded as monogenic disease[7].
- Fanconi anemia complementation group J's MeSH descriptor ID is recorded as C563801[8].
- Fanconi anemia complementation group J's OMIM ID is recorded as 609054[9].
- Fanconi anemia complementation group J's Disease Ontology ID is recorded as DOID:0111097[10].
- Fanconi anemia complementation group J's NCI Thesaurus ID is recorded as C129027[11].
- Fanconi anemia complementation group J's genetic association is recorded as BRIP1[12].
- Fanconi anemia complementation group J's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111097[13].
- Fanconi anemia complementation group J's exact match is recorded as http://identifiers.org/doid/DOID:0111097[14].
- Fanconi anemia complementation group J's UMLS CUI is recorded as C1836860[15].
- Fanconi anemia complementation group J's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Fanconi anemia complementation group J's Mondo ID is recorded as MONDO_0012187[17].
- Fanconi anemia complementation group J's UniProt disease ID is recorded as DI-01603[18].