Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614335 http://purl.bioontology.org/ontology/OMIM/614335
Preferred Name	ARTHROGRYPOSIS, DISTAL, TYPE 1B
Synonyms	DA1B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DA1B
prefLabel	ARTHROGRYPOSIS, DISTAL, TYPE 1B
Gene Symbol	MYBPC1 CMYO16 LCCS4
Scope Statement	Phenotypic variability [MISCELLANEOUS] Caused by mutation in the slow-type myosin-binding protein C gene (MYBPC1, 160794.0001) [MOLECULAR BASIS] Some patients show only distal extremity involvement [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008739 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU005747 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU069274 http://purl.bioontology.org/ontology/OMIM/MTHU057448 See more See less
tui	T047
Gene Locus	12q23.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614335
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3280526
OMIM Entry Type	3
OMIM MimType Value	pound

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