Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

COLLAGEN, TYPE VI, ALPHA-2

Synonyms

BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE

ID

http://purl.bioontology.org/ontology/OMIM/120240

altLabel

BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DIGENIC, COL6A1/COL6A2

BETHLEM MYOPATHY 1

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL RECESSIVE

COL6A2

MYOSCLEROSIS, AUTOSOMAL RECESSIVE

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT

cui

C1413590

C4225636

C4225455

C1834674

C4225638

C4225637

C1850671

Gene Locus

21q22.3

Gene Symbol

UCMD1

COL6A2

BTHLM1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120240.0016

http://purl.bioontology.org/ontology/OMIM/120240.0011

http://purl.bioontology.org/ontology/OMIM/120240.0017

http://purl.bioontology.org/ontology/OMIM/120240.0013

http://purl.bioontology.org/ontology/OMIM/120240.0010

http://purl.bioontology.org/ontology/OMIM/120240.0012

http://purl.bioontology.org/ontology/OMIM/120240.0014

http://purl.bioontology.org/ontology/OMIM/120240.0019

http://purl.bioontology.org/ontology/OMIM/120240.0018

http://purl.bioontology.org/ontology/OMIM/120240.0015

http://purl.bioontology.org/ontology/OMIM/120240.0003

http://purl.bioontology.org/ontology/OMIM/120240.0009

http://purl.bioontology.org/ontology/OMIM/120240.0005

http://purl.bioontology.org/ontology/OMIM/120240.0006

http://purl.bioontology.org/ontology/OMIM/120240.0002

http://purl.bioontology.org/ontology/OMIM/120240.0004

http://purl.bioontology.org/ontology/OMIM/120240.0008

http://purl.bioontology.org/ontology/OMIM/120240.0001

http://purl.bioontology.org/ontology/OMIM/120240.0007

http://purl.bioontology.org/ontology/OMIM/120240.0021

http://purl.bioontology.org/ontology/OMIM/120240.0020

MIMTYPEMEANING

Gene with known sequence

notation

120240

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE VI, ALPHA-2

tui

T047

T028

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