Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618947
http://purl.bioontology.org/ontology/OMIM/618947
Preferred Name

ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
Synonyms
AMC5
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AMC5
prefLabel
ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
Gene Symbol
DYT1
TOR1A
AMC5
Scope Statement
Onset in utero [MISCELLANEOUS]
Early death (in some patients) [MISCELLANEOUS]
Caused by mutation in the torsin 1A gene (TOR1A, 605204.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU071904
http://purl.bioontology.org/ontology/OMIM/MTHU071903
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU002079
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU004211
http://purl.bioontology.org/ontology/OMIM/MTHU068101
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU008076
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU002913
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU002543
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU005669
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU009867
http://purl.bioontology.org/ontology/OMIM/MTHU033855
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU038242
http://purl.bioontology.org/ontology/OMIM/MTHU036366
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU036440
http://purl.bioontology.org/ontology/OMIM/MTHU005748
http://purl.bioontology.org/ontology/OMIM/MTHU026195
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU056735
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU004700
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU000730
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tui
T047
Gene Locus
9q34
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618947
Semantic type UMLS property
Has inheritance type
cui
C5436453
OMIM Entry Type
3
OMIM MimType Value
pound
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