Adenosine Deaminase Deficiency

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Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:DISO
skos:definition	NCI: An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
skos:inScheme	lld:umls
skos-xl:prefLabel	umls-label:A18458129
skos-xl:altLabel	umls-label:A1302704, umls-label:A18451982, umls-label:A18451983, umls-label:A18599107, umls-label:A18617684, umls-label:A7598474
umls:relation	http://linkedlifedata.com/resource/umls/relation/R43995865, http://linkedlifedata.com/resource/umls/relation/R119517162, http://linkedlifedata.com/resource/umls/relation/R69828695, http://linkedlifedata.com/resource/umls/relation/R120165598, http://linkedlifedata.com/resource/umls/relation/R33189203, http://linkedlifedata.com/resource/umls/relation/R123530263, http://linkedlifedata.com/resource/umls/relation/R33189205, http://linkedlifedata.com/resource/umls/relation/R33189201