WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:11722 myotonic dystrophy type 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

1 Ontology

Name
Disease Ontology

9 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:9884 muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration.
DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
DOID:66 muscle tissue disease A muscular disease located in the muscle tissue.
DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles.
DOID:450 myotonic disease A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
DOID:11722 myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:450 DOID:11722
is_a DOID:9884 DOID:11722
is_a DOID:66 DOID:11722
is_a DOID:423 DOID:11722
is_a DOID:7 DOID:11722
is_a DOID:17 DOID:11722
is_a DOID:0080000 DOID:11722
is_a DOID:4 DOID:11722

4 Synonyms

Name Type
congenital myotonic dystrophy synonym
Dystrophia myotonica synonym
myotonic dystrophy of Steinert synonym
Steinert disease synonym