Online Mendelian Inheritance in Man - MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617066 http://purl.bioontology.org/ontology/OMIM/617066
Preferred Name	MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
Synonyms	MDCDC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MDCDC
prefLabel	MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
Gene Symbol	MDCDC ASC1 TRIP4 SMABF1
Scope Statement	One consanguineous family has been reported (last curated August 2016) [MISCELLANEOUS] Onset at birth [MISCELLANEOUS] Patients become wheelchair bound in the second decade [MISCELLANEOUS] Caused by mutation in the thyroid hormone receptor interactor 4 gene (TRIP4, 604501.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU023980 http://purl.bioontology.org/ontology/OMIM/MTHU034061 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU055904 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU047961 http://purl.bioontology.org/ontology/OMIM/MTHU000365 http://purl.bioontology.org/ontology/OMIM/MTHU002278 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU055903 http://purl.bioontology.org/ontology/OMIM/MTHU019367 http://purl.bioontology.org/ontology/OMIM/MTHU007130 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU010755 http://purl.bioontology.org/ontology/OMIM/MTHU005238 http://purl.bioontology.org/ontology/OMIM/MTHU000988 http://purl.bioontology.org/ontology/OMIM/MTHU000347 http://purl.bioontology.org/ontology/OMIM/MTHU059102 http://purl.bioontology.org/ontology/OMIM/MTHU055907 http://purl.bioontology.org/ontology/OMIM/MTHU055906 http://purl.bioontology.org/ontology/OMIM/MTHU048637 http://purl.bioontology.org/ontology/OMIM/MTHU055908 http://purl.bioontology.org/ontology/OMIM/MTHU055905 http://purl.bioontology.org/ontology/OMIM/MTHU031268 http://purl.bioontology.org/ontology/OMIM/MTHU049737 See more See less
tui	T047
Gene Locus	15q22.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617066
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4310736
OMIM Entry Type	3
OMIM MimType Value	pound

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