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GENE - TERM ANNOTATION REPORT

RGD ID: 1558198
Species: Mus musculus
RGD Object: Gene
Symbol: Edaradd
Name: EDAR associated via death domain
Acc ID: DOID:14793
Term: hypohidrotic ectodermal dysplasia
Definition: An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1112/ "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 "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)
Edaradd ISOEdaradd (Rattus norvegicus)14398762RGDDNA:missense mutation:exon:p.Pro153Ser(rat) 
Edaradd ISOEDARADD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaPMID:20222921 PMID:20979233 PMID:21448560 PMID:21626677 PMID:25741868 PMID:28492532
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