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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:0060711
Term: autosomal recessive congenital ichthyosis 3
Definition: An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11398099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11773004 "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 3

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.