MYOSCLEROSIS, AUTOSOMAL RECESSIVE

MYOPATHY, MYOSCLEROTIC

http://purl.bioontology.org/ontology/OMIM/255600

MYOPATHY, MYOSCLEROTIC

MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL

C1850671

21q22.3

UCMD1

COL6A2

BTHLM1

http://purl.bioontology.org/ontology/OMIM/MTHU042094

http://purl.bioontology.org/ontology/OMIM/MTHU001126

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU025989

http://purl.bioontology.org/ontology/OMIM/MTHU025991

http://purl.bioontology.org/ontology/OMIM/MTHU025990

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU003611

http://purl.bioontology.org/ontology/OMIM/MTHU011588

http://purl.bioontology.org/ontology/OMIM/MTHU025994

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU010755

http://purl.bioontology.org/ontology/OMIM/MTHU025993

http://purl.bioontology.org/ontology/OMIM/MTHU025992

http://purl.bioontology.org/ontology/OMIM/MTHU025988

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU025987

http://purl.bioontology.org/ontology/OMIM/MTHU000798

Phenotype description, molecular basis known.

255600

3

pound

MYOSCLEROSIS, AUTOSOMAL RECESSIVE

Caused by mutation in the collagen VI, alpha-2 gene (COL6A2, 120240.0011) [MOLECULAR BASIS]

Onset in childhood [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

T047