Online Mendelian Inheritance in Man - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
Synonyms	KD
ID	http://purl.bioontology.org/ontology/OMIM/313200
altLabel	KD BULBOSPINAL MUSCULAR ATROPHY, X-LINKED SBMA SPINAL AND BULBAR MUSCULAR ATROPHY BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY KENNEDY DISEASE XBSN SMAX1
cui	C2931395 C1839259
Gene Locus	Xq11-q12
Gene Symbol	SBMA DHTR HYSP1 KD SMAX1 AR TFM
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU014493 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003514 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU005871 http://purl.bioontology.org/ontology/OMIM/MTHU017069 http://purl.bioontology.org/ontology/OMIM/MTHU028967 http://purl.bioontology.org/ontology/OMIM/MTHU022603 http://purl.bioontology.org/ontology/OMIM/MTHU004780 http://purl.bioontology.org/ontology/OMIM/MTHU022608 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU045850 http://purl.bioontology.org/ontology/OMIM/MTHU022606 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU022613 http://purl.bioontology.org/ontology/OMIM/MTHU022601 http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU038335 http://purl.bioontology.org/ontology/OMIM/MTHU008398 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU022602 http://purl.bioontology.org/ontology/OMIM/MTHU022607 http://purl.bioontology.org/ontology/OMIM/MTHU022605 http://purl.bioontology.org/ontology/OMIM/MTHU022609 http://purl.bioontology.org/ontology/OMIM/MTHU000874 http://purl.bioontology.org/ontology/OMIM/MTHU022612 http://purl.bioontology.org/ontology/OMIM/MTHU022600 http://purl.bioontology.org/ontology/OMIM/MTHU022604 http://purl.bioontology.org/ontology/OMIM/MTHU022610 http://purl.bioontology.org/ontology/OMIM/MTHU022614 http://purl.bioontology.org/ontology/OMIM/MTHU010466
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	313200
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537017	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D055534	Medical Subject Headings	CUI