Fanconi anemia complementation group L
Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16
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Fanconi anemia complementation group L
Summary
Fanconi anemia complementation group L is a developmental defect during embryogenesis[1]. It is known by 6 alternative names across languages and contexts.[2]
Key Facts
- Fanconi anemia complementation group L's instance of is recorded as developmental defect during embryogenesis[3].
- Fanconi anemia complementation group L's instance of is recorded as rare disease[4].
- Fanconi anemia complementation group L's instance of is recorded as class of disease[5].
- Fanconi anemia complementation group L is a type of Fanconi anemia[6].
- Fanconi anemia complementation group L is a type of genetic disease[7].
- Fanconi anemia complementation group L is a type of autosomal recessive disease[8].
- Fanconi anemia complementation group L's NCI Thesaurus ID is recorded as C164677[9].
- Fanconi anemia complementation group L's genetic association is recorded as FANCL[10].
- Fanconi anemia complementation group L's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111082[11].
- Fanconi anemia complementation group L's exact match is recorded as http://identifiers.org/doid/DOID:0111082[12].
- Fanconi anemia complementation group L's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
Why It Matters
Fanconi anemia complementation group L is known by 6 alternative names across languages and contexts.[2]