Online Mendelian Inheritance in Man - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619112 http://purl.bioontology.org/ontology/OMIM/619112
Preferred Name	NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13
Synonyms	HMND13 DSMAVC NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC HMN5C DHMN5C DHMN VC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HMND13 DSMAVC NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VC HMN5C DHMN5C DHMN VC See more See less
prefLabel	NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13
Gene Symbol	HMND13 SPG17 BSCL2 PELD
Scope Statement	Slowly progressive [MISCELLANEOUS] Highly variable phenotype even within families [MISCELLANEOUS] Upper limb involvement is prominent [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Caused by mutation in the BSCL2 gene (BSCL2, 606158.0013) [MOLECULAR BASIS] Lower limb involvement may occur at the same time or later [MISCELLANEOUS] Onset usually in the first decades [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU051790 http://purl.bioontology.org/ontology/OMIM/MTHU072266 http://purl.bioontology.org/ontology/OMIM/MTHU072277 http://purl.bioontology.org/ontology/OMIM/MTHU072280 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU072278 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU001140 http://purl.bioontology.org/ontology/OMIM/MTHU043108 http://purl.bioontology.org/ontology/OMIM/MTHU072279 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU040871 See more See less
tui	T047
Gene Locus	11q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619112
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5436838
OMIM Entry Type	3
OMIM MimType Value	pound

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