Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/193700
http://purl.bioontology.org/ontology/OMIM/193700
Preferred Name

ARTHROGRYPOSIS, DISTAL, TYPE 2A
Synonyms
CRANIOCARPOTARSAL DYSTROPHY
FSS
WHISTLING FACE-WINDMILL VANE HAND SYNDROME
DA2A
FREEMAN-SHELDON SYNDROME
CRANIOCARPOTARSAL DYSPLASIA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CRANIOCARPOTARSAL DYSTROPHY
FSS
WHISTLING FACE-WINDMILL VANE HAND SYNDROME
DA2A
FREEMAN-SHELDON SYNDROME
CRANIOCARPOTARSAL DYSPLASIA
See more
See less
prefLabel
ARTHROGRYPOSIS, DISTAL, TYPE 2A
Gene Symbol
MYH3
CPSFS1A
DA8
CPSFS1B
DA2B3
DA2A
See more
See less
Scope Statement
Breech presentation [MISCELLANEOUS]
Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, 160720.0001) [MOLECULAR BASIS]
Autosomal recessive form (277720) has also been described [MISCELLANEOUS]
See also DA2B (601680), which is an allelic disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU014965
http://purl.bioontology.org/ontology/OMIM/MTHU002310
http://purl.bioontology.org/ontology/OMIM/MTHU014963
http://purl.bioontology.org/ontology/OMIM/MTHU037201
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU001751
http://purl.bioontology.org/ontology/OMIM/MTHU036568
http://purl.bioontology.org/ontology/OMIM/MTHU023761
http://purl.bioontology.org/ontology/OMIM/MTHU002677
http://purl.bioontology.org/ontology/OMIM/MTHU003911
http://purl.bioontology.org/ontology/OMIM/MTHU023762
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU002599
http://purl.bioontology.org/ontology/OMIM/MTHU004564
http://purl.bioontology.org/ontology/OMIM/MTHU000565
http://purl.bioontology.org/ontology/OMIM/MTHU008738
http://purl.bioontology.org/ontology/OMIM/MTHU036361
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU014966
http://purl.bioontology.org/ontology/OMIM/MTHU012892
http://purl.bioontology.org/ontology/OMIM/MTHU005820
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU005747
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU000575
http://purl.bioontology.org/ontology/OMIM/MTHU014967
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU023764
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/MTHU003098
http://purl.bioontology.org/ontology/OMIM/MTHU023763
http://purl.bioontology.org/ontology/OMIM/MTHU023765
http://purl.bioontology.org/ontology/OMIM/MTHU007235
http://purl.bioontology.org/ontology/OMIM/MTHU005905
http://purl.bioontology.org/ontology/OMIM/MTHU000257
http://purl.bioontology.org/ontology/OMIM/MTHU014962
http://purl.bioontology.org/ontology/OMIM/MTHU000189
http://purl.bioontology.org/ontology/OMIM/MTHU023121
http://purl.bioontology.org/ontology/OMIM/MTHU002110
http://purl.bioontology.org/ontology/OMIM/MTHU002378
http://purl.bioontology.org/ontology/OMIM/MTHU008733
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU000094
See more
See less
tui
T047
Gene Locus
17p13.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
193700
Semantic type UMLS property
Has inheritance type
cui
C0265224
OMIM Entry Type
3
OMIM MimType Value
pound
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display