Online Mendelian Inheritance in Man - NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
Synonyms	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
ID	http://purl.bioontology.org/ontology/OMIM/600175
altLabel	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII HMN8 DHMN8 SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
cui	C1838492
Gene Locus	12q24.1
Gene Symbol	SSQTL1 SMAL BCYM3 HMSN2C TRPV4 SPSMA VROAC CMT2C
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU033304 http://purl.bioontology.org/ontology/OMIM/MTHU001536 http://purl.bioontology.org/ontology/OMIM/MTHU001751 http://purl.bioontology.org/ontology/OMIM/MTHU004564 http://purl.bioontology.org/ontology/OMIM/MTHU037032 http://purl.bioontology.org/ontology/OMIM/MTHU006236 http://purl.bioontology.org/ontology/OMIM/MTHU038370 http://purl.bioontology.org/ontology/OMIM/MTHU038374 http://purl.bioontology.org/ontology/OMIM/MTHU038368 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000759 http://purl.bioontology.org/ontology/OMIM/MTHU038372 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001663 http://purl.bioontology.org/ontology/OMIM/MTHU002725 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU001118 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU038369 http://purl.bioontology.org/ontology/OMIM/MTHU038373 http://purl.bioontology.org/ontology/OMIM/MTHU003604 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU038371 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU003116
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600175
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
tui	T047

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	http://purl.bioontology.org/ontology/MESH/C563981	Medical Subject Headings	CUI