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Preferred Name

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
Synonyms

EDMMD
ID

http://purl.bioontology.org/ontology/OMIM/132450
altLabel

EDMMD
cui

C1851536
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU036735

http://purl.bioontology.org/ontology/OMIM/MTHU011178

http://purl.bioontology.org/ontology/OMIM/MTHU036732

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU036728

http://purl.bioontology.org/ontology/OMIM/MTHU036726

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU036733

http://purl.bioontology.org/ontology/OMIM/MTHU036731

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

http://purl.bioontology.org/ontology/OMIM/MTHU036734

http://purl.bioontology.org/ontology/OMIM/MTHU001976

http://purl.bioontology.org/ontology/OMIM/MTHU008756

http://purl.bioontology.org/ontology/OMIM/MTHU036725

http://purl.bioontology.org/ontology/OMIM/MTHU036727
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

132450
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
Scope Statement

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0029) [MOLECULAR BASIS]

Based on 4 patients in one family [MISCELLANEOUS]
tui

T047
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http://purl.bioontology.org/ontology/MESH/C565046 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C565046 Medical Subject Headings / 医学主题词表 LOOM