Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC

Synonyms

CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A

ID

http://purl.bioontology.org/ontology/OMIM/160720

altLabel

CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A

CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B

MYH3

MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1

ARTHROGRYPOSIS, DISTAL, TYPE 2B3

MYHC-EMB

ARTHROGRYPOSIS, DISTAL, TYPE 2A

MYHSE1

cui

C5193114

C1417538

C5193098

C0265224

C1867440

Gene Locus

17p13.1

Gene Symbol

MYH3

CPSFS1A

DA8

CPSFS1B

DA2B3

DA2A

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/160720.0009

http://purl.bioontology.org/ontology/OMIM/160720.0004

http://purl.bioontology.org/ontology/OMIM/160720.0008

http://purl.bioontology.org/ontology/OMIM/160720.0007

http://purl.bioontology.org/ontology/OMIM/160720.0001

http://purl.bioontology.org/ontology/OMIM/160720.0003

http://purl.bioontology.org/ontology/OMIM/160720.0006

http://purl.bioontology.org/ontology/OMIM/160720.0005

http://purl.bioontology.org/ontology/OMIM/160720.0002

http://purl.bioontology.org/ontology/OMIM/160720.0012

http://purl.bioontology.org/ontology/OMIM/160720.0017

http://purl.bioontology.org/ontology/OMIM/160720.0013

http://purl.bioontology.org/ontology/OMIM/160720.0015

http://purl.bioontology.org/ontology/OMIM/160720.0014

http://purl.bioontology.org/ontology/OMIM/160720.0010

http://purl.bioontology.org/ontology/OMIM/160720.0011

http://purl.bioontology.org/ontology/OMIM/160720.0018

http://purl.bioontology.org/ontology/OMIM/160720.0016

http://purl.bioontology.org/ontology/OMIM/160720.0019

http://purl.bioontology.org/ontology/OMIM/160720.0020

MIMTYPEMEANING

Gene with known sequence

notation

160720

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC

tui

T047

T028

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