Online Mendelian Inheritance in Man - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/254090 http://purl.bioontology.org/ontology/OMIM/254090
Preferred Name	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A
Synonyms	UCMD1A/1B, DIGENIC ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC UCMD1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY UCMD ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY, SCLEROATONIC ULLRICH DISEASE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	UCMD1A/1B, DIGENIC ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC UCMD1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY UCMD ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY MUSCULAR DYSTROPHY, SCLEROATONIC ULLRICH DISEASE See more See less
prefLabel	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A
Gene Symbol	UCHMD1A BTHLM1A COL6A1
Scope Statement	Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, 120220.0007) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] A subset of patients have heterozygous mutations consistent with a dominant-negative effect [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000682 http://purl.bioontology.org/ontology/OMIM/MTHU023980 http://purl.bioontology.org/ontology/OMIM/MTHU011016 http://purl.bioontology.org/ontology/OMIM/MTHU011013 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU011015 http://purl.bioontology.org/ontology/OMIM/MTHU011008 http://purl.bioontology.org/ontology/OMIM/MTHU048758 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU032438 http://purl.bioontology.org/ontology/OMIM/MTHU011001 http://purl.bioontology.org/ontology/OMIM/MTHU011014 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU011010 http://purl.bioontology.org/ontology/OMIM/MTHU000958 http://purl.bioontology.org/ontology/OMIM/MTHU011006 http://purl.bioontology.org/ontology/OMIM/MTHU000381 http://purl.bioontology.org/ontology/OMIM/MTHU002917 http://purl.bioontology.org/ontology/OMIM/MTHU042078 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU011005 http://purl.bioontology.org/ontology/OMIM/MTHU011007 http://purl.bioontology.org/ontology/OMIM/MTHU000577 http://purl.bioontology.org/ontology/OMIM/MTHU011000 http://purl.bioontology.org/ontology/OMIM/MTHU010755 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU011009 http://purl.bioontology.org/ontology/OMIM/MTHU026018 http://purl.bioontology.org/ontology/OMIM/MTHU001598 http://purl.bioontology.org/ontology/OMIM/MTHU003173 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU026017 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU010735 http://purl.bioontology.org/ontology/OMIM/MTHU011011 http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU078219 http://purl.bioontology.org/ontology/OMIM/MTHU011003 http://purl.bioontology.org/ontology/OMIM/MTHU042079 http://purl.bioontology.org/ontology/OMIM/MTHU011012 See more See less
tui	T047
Gene Locus	21q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	254090
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0410179 C5935566
OMIM Entry Type	3
OMIM MimType Value	pound

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