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GENE - TERM ANNOTATION REPORT

CRRD ID: 13913924
Species: Sus scrofa
CRRD 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", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "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 ISORGD:116214669068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:116241359068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:116356009068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:116541449068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:116616889068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:116628689068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

 
ALOX12B ISORGD:86042829068941ClinVarClinVar Annotator: match by term: Congenital ichthyosiform erythroderma

PMID:18347291, PMID:25741868
ALOX12B ISORGD:86042839068941ClinVarClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma

PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25741868, PMID:30311386
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.