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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11092255
Species: Homo sapiens
RGD Object: Variant
Symbol: CV231319
Name: NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
Acc ID: DOID:9005170
Term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
Definition: A disease characterized by scalp hypotrichosis and hypodontia.
Definition Source(s): OMIM:618180
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 8554872ClinVarClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS

PMID:24033266, PMID:25855803, PMID:27736875
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.