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GENE - TERM ANNOTATION REPORT

RGD ID: 628884
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prrx1
Name: paired related homeobox 1
Acc ID: DOID:0060341
Term: agnathia-otocephaly complex
Definition: A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17438667 "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)
Prrx1 ISOPRRX1 (Homo sapiens)7240710OMIM  
Prrx1 ISOPRRX1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:23444262
Prrx1 ISOPRRX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Agnathia-otocephaly complexPMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868
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