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GENE - TERM ANNOTATION REPORT

RGD ID: 9034969
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Hcfc1
Name: host cell factor C1
Acc ID: DOID:0111788
Term: Melnick-Needles syndrome
Definition: An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16538226 "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)
Hcfc1 ISOHCFC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteodysplasty of Melnick and NeedlesPMID:15689435 PMID:16080119 PMID:28492532
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