Online Mendelian Inheritance in Man - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613530 http://purl.bioontology.org/ontology/OMIM/613530
Preferred Name	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H
Synonyms	LGMD1H
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LGMD1H
prefLabel	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H
Gene Symbol	LGMD1H
Scope Statement	Slowly progressive [MISCELLANEOUS] Onset of calf hypotrophy may occur earlier [MISCELLANEOUS] Onset of muscle weakness in fifth decade [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Variable expressivity [MISCELLANEOUS] One family has been reported (as of August 2010) [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006723 http://purl.bioontology.org/ontology/OMIM/MTHU032335 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU034335 http://purl.bioontology.org/ontology/OMIM/MTHU034333 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU002771 http://purl.bioontology.org/ontology/OMIM/MTHU031226 http://purl.bioontology.org/ontology/OMIM/MTHU034332 http://purl.bioontology.org/ontology/OMIM/MTHU003955 http://purl.bioontology.org/ontology/OMIM/MTHU005652 http://purl.bioontology.org/ontology/OMIM/MTHU034336 http://purl.bioontology.org/ontology/OMIM/MTHU034334 http://purl.bioontology.org/ontology/OMIM/MTHU034331 See more See less
tui	T047
Gene Locus	3p25.1-p23
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	613530
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3150786
OMIM Entry Type	5
OMIM MimType Value	perc

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