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GENE - TERM ANNOTATION REPORT

RGD ID: 1308483
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pex7
Name: peroxisomal biogenesis factor 7
Acc ID: DOID:2580
Term: rhizomelic chondrodysplasia punctata
Definition: A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata "DO" "DO", http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15679822 "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)
Pex7 ISOPEX7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9090381
Pex7 ISOPEX7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctataPMID:10083738 PMID:10527683 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12054588 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:17576681 PMID:1773541 PMID:20145307 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:24172221 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9536098 PMID:9686382
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