Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/616471
http://purl.bioontology.org/ontology/OMIM/616471
Preferred Name

BETHLEM MYOPATHY 2
Synonyms
EDS, MYOPATHIC TYPE
BTHLM2
EDSMYP
EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EDS, MYOPATHIC TYPE
BTHLM2
EDSMYP
EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE
prefLabel
BETHLEM MYOPATHY 2
Gene Symbol
COL12A1
BTHLM2
UCMD2
EDSMYP
Scope Statement
Muscle strength tends to improve during the teenage years [MISCELLANEOUS]
Caused by mutation in the collagen, type XII, alpha-1 gene (COL12A1, 120320.0002) [MOLECULAR BASIS]
Large joint contractures may resolve over time [MISCELLANEOUS]
Onset in first decade [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU060566
http://purl.bioontology.org/ontology/OMIM/MTHU000660
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU000191
http://purl.bioontology.org/ontology/OMIM/MTHU060562
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU060569
http://purl.bioontology.org/ontology/OMIM/MTHU051474
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU051295
http://purl.bioontology.org/ontology/OMIM/MTHU001172
http://purl.bioontology.org/ontology/OMIM/MTHU001148
http://purl.bioontology.org/ontology/OMIM/MTHU023390
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU002207
http://purl.bioontology.org/ontology/OMIM/MTHU000681
http://purl.bioontology.org/ontology/OMIM/MTHU060567
http://purl.bioontology.org/ontology/OMIM/MTHU011009
http://purl.bioontology.org/ontology/OMIM/MTHU026018
http://purl.bioontology.org/ontology/OMIM/MTHU065908
http://purl.bioontology.org/ontology/OMIM/MTHU036440
http://purl.bioontology.org/ontology/OMIM/MTHU073880
http://purl.bioontology.org/ontology/OMIM/MTHU060565
http://purl.bioontology.org/ontology/OMIM/MTHU065907
http://purl.bioontology.org/ontology/OMIM/MTHU022423
http://purl.bioontology.org/ontology/OMIM/MTHU060568
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tui
T047
Gene Locus
6q13-q14.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
616471
Semantic type UMLS property
Has inheritance type
cui
C4225313
OMIM Entry Type
3
OMIM MimType Value
pound
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