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VARIANT - TERM ANNOTATION REPORT

CRRD ID: 11579111
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV264886
Name: NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu)
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)
CV264886 IAGP 8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis

PMID:11398099, PMID:16116617, PMID:19131948, PMID:19890349, PMID:24033266, PMID:25998749, PMID:26370990, PMID:26762237, PMID:27025581
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.