Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED

Synonyms

EDMD1

ID

http://purl.bioontology.org/ontology/OMIM/310300

altLabel

EDMD1

MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES

HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY

SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY

EMD1

cui

C2930996

C0751337

Gene Locus

Xq28

Gene Symbol

STA

EDMD

EMD

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022626

http://purl.bioontology.org/ontology/OMIM/MTHU006726

http://purl.bioontology.org/ontology/OMIM/MTHU042411

http://purl.bioontology.org/ontology/OMIM/MTHU001001

http://purl.bioontology.org/ontology/OMIM/MTHU007158

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

http://purl.bioontology.org/ontology/OMIM/MTHU007162

http://purl.bioontology.org/ontology/OMIM/MTHU007160

http://purl.bioontology.org/ontology/OMIM/MTHU022625

http://purl.bioontology.org/ontology/OMIM/MTHU005929

http://purl.bioontology.org/ontology/OMIM/MTHU042409

http://purl.bioontology.org/ontology/OMIM/MTHU044717

http://purl.bioontology.org/ontology/OMIM/MTHU042412

http://purl.bioontology.org/ontology/OMIM/MTHU000720

http://purl.bioontology.org/ontology/OMIM/MTHU007159

http://purl.bioontology.org/ontology/OMIM/MTHU007163

http://purl.bioontology.org/ontology/OMIM/MTHU007157

http://purl.bioontology.org/ontology/OMIM/MTHU007155

http://purl.bioontology.org/ontology/OMIM/MTHU002645

http://purl.bioontology.org/ontology/OMIM/MTHU007165

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

310300

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED

tui

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D020389 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535734 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.0 International Classification of Diseases, Version 10 - Clinical Modification CUI