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GENE - TERM ANNOTATION REPORT

RGD ID: 1305330
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Alox12b
Name: arachidonate 12-lipoxygenase, 12R type
Acc ID: DOID:0060655
Term: autosomal recessive congenital ichthyosis
Definition: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "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)
Alox12b ISOALOX12B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosisPMID:16116617 PMID:16199547 PMID:17576681 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:33255364 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 PMID:9536098
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