Metaphyseal chondrodysplasia, McKusick type

Source:http://linkedlifedata.com/resource/umls/id/C0220748

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Predicate	Object
rdf:type	umls-semnetwork:T019, umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:ANAT, calbc-group:CONC, calbc-group:DISO
skos:definition	NCI: A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency.
skos:inScheme	lld:umls
skos:broader	umls-concept:C0019569, umls-concept:C0021051, umls-concept:C0029422
skos-xl:prefLabel	umls-label:A18452169
skos-xl:altLabel	umls-label:A11931408, umls-label:A11974436, umls-label:A12003199, umls-label:A12802080, umls-label:A18458341
umls:relation	http://linkedlifedata.com/resource/umls/relation/R60592102, http://linkedlifedata.com/resource/umls/relation/R60504652, http://linkedlifedata.com/resource/umls/relation/R60592044, http://linkedlifedata.com/resource/umls/relation/R60620996, http://linkedlifedata.com/resource/umls/relation/R60562786, http://linkedlifedata.com/resource/umls/relation/R60620995, http://linkedlifedata.com/resource/umls/relation/R60592101, http://linkedlifedata.com/resource/umls/relation/R60504636, http://linkedlifedata.com/resource/umls/relation/R60533691, http://linkedlifedata.com/resource/umls/relation/R60504653, http://linkedlifedata.com/resource/umls/relation/R60649982, http://linkedlifedata.com/resource/umls/relation/R60533640, http://linkedlifedata.com/resource/umls/relation/R60649917, http://linkedlifedata.com/resource/umls/relation/R60533576, http://linkedlifedata.com/resource/umls/relation/R60649918, http://linkedlifedata.com/resource/umls/relation/R60504635, http://linkedlifedata.com/resource/umls/relation/R60620884, http://linkedlifedata.com/resource/umls/relation/R60679025, http://linkedlifedata.com/resource/umls/relation/R60562787, http://linkedlifedata.com/resource/umls/relation/R60679027, http://linkedlifedata.com/resource/umls/relation/R60649929, http://linkedlifedata.com/resource/umls/relation/R60708304, http://linkedlifedata.com/resource/umls/relation/R60708305, http://linkedlifedata.com/resource/umls/relation/R60679086, http://linkedlifedata.com/resource/umls/relation/R60649983, http://linkedlifedata.com/resource/umls/relation/R60562833, http://linkedlifedata.com/resource/umls/relation/R60533641, http://linkedlifedata.com/resource/umls/relation/R60649985, http://linkedlifedata.com/resource/umls/relation/R60592152, http://linkedlifedata.com/resource/umls/relation/R60708422, http://linkedlifedata.com/resource/umls/relation/R125088514, http://linkedlifedata.com/resource/umls/relation/R60679138, http://linkedlifedata.com/resource/umls/relation/R60562832, http://linkedlifedata.com/resource/umls/relation/R60562788, http://linkedlifedata.com/resource/umls/relation/R60649984, http://linkedlifedata.com/resource/umls/relation/R60679026, http://linkedlifedata.com/resource/umls/relation/R125088515, http://linkedlifedata.com/resource/umls/relation/R60562779, http://linkedlifedata.com/resource/umls/relation/R60620883, http://linkedlifedata.com/resource/umls/relation/R60577320, http://linkedlifedata.com/resource/umls/relation/R60489912, http://linkedlifedata.com/resource/umls/relation/R69771862, http://linkedlifedata.com/resource/umls/relation/R109641343, http://linkedlifedata.com/resource/umls/relation/R128715187, http://linkedlifedata.com/resource/umls/relation/R128715188, http://linkedlifedata.com/resource/umls/relation/R128715189, http://linkedlifedata.com/resource/umls/relation/R128715190, http://linkedlifedata.com/resource/umls/relation/R129094512, http://linkedlifedata.com/resource/umls/relation/R129094513, http://linkedlifedata.com/resource/umls/relation/R03281575