Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/617146
http://purl.bioontology.org/ontology/OMIM/617146
Preferred Name

ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Synonyms
DAIPT
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DAIPT
prefLabel
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Gene Symbol
DA3
MWKS
PIEZO2
FAM38B
DA5
DAIPT
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Scope Statement
Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0010) [MOLECULAR BASIS]
Onset in first decade [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU056242
http://purl.bioontology.org/ontology/OMIM/MTHU000329
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU032732
http://purl.bioontology.org/ontology/OMIM/MTHU001017
http://purl.bioontology.org/ontology/OMIM/MTHU010738
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU006809
http://purl.bioontology.org/ontology/OMIM/MTHU024739
http://purl.bioontology.org/ontology/OMIM/MTHU056429
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU004805
http://purl.bioontology.org/ontology/OMIM/MTHU002725
http://purl.bioontology.org/ontology/OMIM/MTHU056243
http://purl.bioontology.org/ontology/OMIM/MTHU056248
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU000695
http://purl.bioontology.org/ontology/OMIM/MTHU056252
http://purl.bioontology.org/ontology/OMIM/MTHU007218
http://purl.bioontology.org/ontology/OMIM/MTHU001151
http://purl.bioontology.org/ontology/OMIM/MTHU056240
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU064652
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU056246
http://purl.bioontology.org/ontology/OMIM/MTHU056251
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU056245
http://purl.bioontology.org/ontology/OMIM/MTHU025802
http://purl.bioontology.org/ontology/OMIM/MTHU056247
http://purl.bioontology.org/ontology/OMIM/MTHU000604
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU056244
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU007298
http://purl.bioontology.org/ontology/OMIM/MTHU000938
http://purl.bioontology.org/ontology/OMIM/MTHU056241
http://purl.bioontology.org/ontology/OMIM/MTHU056250
http://purl.bioontology.org/ontology/OMIM/MTHU056249
http://purl.bioontology.org/ontology/OMIM/MTHU001409
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tui
T047
Gene Locus
18p11.22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
617146
Semantic type UMLS property
Has inheritance type
cui
C4310692
OMIM Entry Type
3
OMIM MimType Value
pound
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