Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

rippling muscle disease 2

Synonyms

autosomal dominant limb-girdle muscular dystrophy type 1C

Definitions

NT MGI. A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

ID

http://purl.obolibrary.org/obo/DOID_0060255

comment

NT MGI.

created by

emitraka

creation_date

2015-01-29T16:51:43Z

database_cross_reference

OMIM:606072

UMLS_CUI:C1853698

SNOMEDCT_US_2023_03_01:709281006

GARD:9164

ORDO:265

ORDO:97238

has exact synonym

autosomal dominant limb-girdle muscular dystrophy type 1C

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_alternative_id

DOID:0110302

has_obo_namespace

disease_ontology

id

DOID:0060255

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

rippling muscle disease 2

notation

DOID:0060255

prefLabel

rippling muscle disease 2

textual definition

A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736

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