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GENE - TERM ANNOTATION REPORT

RGD ID: 620268
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abcc6
Name: ATP binding cassette subfamily C member 6
Acc ID: DOID:9007521
Term: Desbuquois Dysplasia 1
Definition: Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)
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)
Abcc6 ISOABCC6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Desbuquois dysplasia 1PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
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