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GENE - TERM ANNOTATION REPORT

RGD ID: 3366
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pomc
Name: proopiomelanocortin
Acc ID: DOID:0112339
Term: Tatton-Brown-Rahman syndrome
Definition: A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24614070/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/34315901/ "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)
Pomc ISOPOMC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndromePMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502
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