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GENE - TERM ANNOTATION REPORT

RGD ID: 11188
Species: Mus musculus
RGD Object: Gene
Symbol: Pthlh
Name: parathyroid hormone-like peptide
Acc ID: DOID:0110976
Term: brachydactyly type E2
Definition: A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20015959 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20170896 "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)
Pthlh ISOPTHLH (Homo sapiens)7240710OMIM  
Pthlh ISOPTHLH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related conditionPMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 PMID:29947179 PMID:31283647 PMID:38702915
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