Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

rippling muscle disease 1

Definitions

A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.

ID

http://purl.obolibrary.org/obo/DOID_0070308

created_by

apujar

database_cross_reference

MESH:C535686

OMIM:600332

definition

A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.

has symptom

http://purl.obolibrary.org/obo/SYMP_0019161

has_obo_namespace

disease_ontology

id

DOID:0070308

label

rippling muscle disease 1

notation

DOID:0070308

prefLabel

rippling muscle disease 1

subClassOf

http://purl.obolibrary.org/obo/DOID_66

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/600332 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/C535686 Medical Subject Headings LOOM