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GENE - TERM ANNOTATION REPORT

RGD ID: 11944532
Species: Pan paniscus
RGD Object: Gene
Symbol: IRF6
Name: interferon regulatory factor 6
Acc ID: DOID:0060055
Term: popliteal pterygium syndrome
Definition: A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome "DO" "DO", https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2352260 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/4384166 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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