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GENE - TERM ANNOTATION REPORT

RGD ID: 71061
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kynu
Name: kynureninase
Acc ID: DOID:0081122
Term: Catel Manzke syndrome
Definition: A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/18501694/ "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Kynu ISOKYNU (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROMEPMID:25741868 PMID:31923704 PMID:33942433
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