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rdf:type | |
calbc:hasCorrelation | |
skos:exactMatch | |
skos:definition |
MSH: A ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A1. It signals via the specific signaling adaptor EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. Loss of function of the edar receptor is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA and ECTODERMAL DYSPLASIA 3, ANHIDROTIC.
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skos:inScheme | |
skos-xl:prefLabel | |
skos-xl:altLabel |
umls-label:A10906215,
umls-label:A17985438,
umls-label:A10906214,
umls-label:A18057136,
umls-label:A10910410,
umls-label:A10910322,
umls-label:A18057134,
umls-label:A10906197,
umls-label:A17937219,
umls-label:A10906201,
umls-label:A10910318,
umls-label:A18008987,
umls-label:A10911598,
umls-label:A17913306
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