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GENE - TERM ANNOTATION REPORT

RGD ID: 11884981
Species: Pan paniscus
RGD Object: Gene
Symbol: RECQL
Name: RecQ like helicase
Acc ID: DOID:9001941
Term: RECON PROGEROID SYNDROME
Definition: This disease is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs.
Definition Source(s): MIM:620370
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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