Online Mendelian Inheritance in Man - ARTHROGRYPOSIS, DISTAL, TYPE 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/108145 http://purl.bioontology.org/ontology/OMIM/108145
Preferred Name	ARTHROGRYPOSIS, DISTAL, TYPE 5
Synonyms	DAIIB ARTHROGRYPOSIS, DISTAL, TYPE IIB DA5 OCULOMELIC AMYOPLASIA ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DAIIB ARTHROGRYPOSIS, DISTAL, TYPE IIB DA5 OCULOMELIC AMYOPLASIA ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES
prefLabel	ARTHROGRYPOSIS, DISTAL, TYPE 5
Gene Symbol	DA3 MWKS PIEZO2 FAM38B DA5 DAIPT See more See less
Scope Statement	Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU067014 http://purl.bioontology.org/ontology/OMIM/MTHU000229 http://purl.bioontology.org/ontology/OMIM/MTHU067013 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU019419 http://purl.bioontology.org/ontology/OMIM/MTHU007977 http://purl.bioontology.org/ontology/OMIM/MTHU019420 http://purl.bioontology.org/ontology/OMIM/MTHU007830 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU019424 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU012982 http://purl.bioontology.org/ontology/OMIM/MTHU019425 http://purl.bioontology.org/ontology/OMIM/MTHU002639 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU010818 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU036361 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU019427 http://purl.bioontology.org/ontology/OMIM/MTHU019422 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000577 http://purl.bioontology.org/ontology/OMIM/MTHU067016 http://purl.bioontology.org/ontology/OMIM/MTHU067015 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU019428 http://purl.bioontology.org/ontology/OMIM/MTHU019423 http://purl.bioontology.org/ontology/OMIM/MTHU036426 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU019431 http://purl.bioontology.org/ontology/OMIM/MTHU011134 http://purl.bioontology.org/ontology/OMIM/MTHU019426 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU019421 http://purl.bioontology.org/ontology/OMIM/MTHU004645 http://purl.bioontology.org/ontology/OMIM/MTHU019429 http://purl.bioontology.org/ontology/OMIM/MTHU008498 http://purl.bioontology.org/ontology/OMIM/MTHU019430 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	18p11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	108145
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1862472
OMIM Entry Type	3
OMIM MimType Value	pound

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