Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

MYOPATHY, DISTAL, 1
Synonyms

MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT
ID

http://purl.bioontology.org/ontology/OMIM/160500
altLabel

MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT

LAING DISTAL MYOPATHY

MYOPATHY, LATE DISTAL HEREDITARY

MPD1
cui

C0221054
Gene Locus

14q12
Gene Symbol

MYH7

SPMM

CMD1S

CMH1

SPMD

MPD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU024017

http://purl.bioontology.org/ontology/OMIM/MTHU024019

http://purl.bioontology.org/ontology/OMIM/MTHU011016

http://purl.bioontology.org/ontology/OMIM/MTHU031232

http://purl.bioontology.org/ontology/OMIM/MTHU016929

http://purl.bioontology.org/ontology/OMIM/MTHU031230

http://purl.bioontology.org/ontology/OMIM/MTHU031224

http://purl.bioontology.org/ontology/OMIM/MTHU000357

http://purl.bioontology.org/ontology/OMIM/MTHU031222

http://purl.bioontology.org/ontology/OMIM/MTHU016923

http://purl.bioontology.org/ontology/OMIM/MTHU016927

http://purl.bioontology.org/ontology/OMIM/MTHU016925

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU005712

http://purl.bioontology.org/ontology/OMIM/MTHU024018

http://purl.bioontology.org/ontology/OMIM/MTHU031225

http://purl.bioontology.org/ontology/OMIM/MTHU031223

http://purl.bioontology.org/ontology/OMIM/MTHU031229

http://purl.bioontology.org/ontology/OMIM/MTHU031227

http://purl.bioontology.org/ontology/OMIM/MTHU022188

http://purl.bioontology.org/ontology/OMIM/MTHU001833

http://purl.bioontology.org/ontology/OMIM/MTHU024016

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU001203

http://purl.bioontology.org/ontology/OMIM/MTHU016926

http://purl.bioontology.org/ontology/OMIM/MTHU016924

http://purl.bioontology.org/ontology/OMIM/MTHU031231

http://purl.bioontology.org/ontology/OMIM/MTHU016922

http://purl.bioontology.org/ontology/OMIM/MTHU000011

http://purl.bioontology.org/ontology/OMIM/MTHU016928

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU031228

http://purl.bioontology.org/ontology/OMIM/MTHU031226

http://purl.bioontology.org/ontology/OMIM/MTHU002772
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

160500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MYOPATHY, DISTAL, 1
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D049310 Medical Subject Headings CUI