Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/604801 http://purl.bioontology.org/ontology/OMIM/604801
Preferred Name	MUSCULAR DYSTROPHY, CONGENITAL, 1B
Synonyms	MDC1B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MDC1B
prefLabel	MUSCULAR DYSTROPHY, CONGENITAL, 1B
Gene Symbol	MDC1B
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU042411 http://purl.bioontology.org/ontology/OMIM/MTHU004663 http://purl.bioontology.org/ontology/OMIM/MTHU004670 http://purl.bioontology.org/ontology/OMIM/MTHU020187 http://purl.bioontology.org/ontology/OMIM/MTHU004664 http://purl.bioontology.org/ontology/OMIM/MTHU000203 http://purl.bioontology.org/ontology/OMIM/MTHU004671 http://purl.bioontology.org/ontology/OMIM/MTHU004665 http://purl.bioontology.org/ontology/OMIM/MTHU003164 http://purl.bioontology.org/ontology/OMIM/MTHU004666 http://purl.bioontology.org/ontology/OMIM/MTHU029411 http://purl.bioontology.org/ontology/OMIM/MTHU042691 http://purl.bioontology.org/ontology/OMIM/MTHU004618 http://purl.bioontology.org/ontology/OMIM/MTHU004662 http://purl.bioontology.org/ontology/OMIM/MTHU041292 http://purl.bioontology.org/ontology/OMIM/MTHU036957 See more See less
tui	T047
Gene Locus	1q42
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	604801
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1858118
OMIM Entry Type	5
OMIM MimType Value	perc

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