WormMine

WS295

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

15 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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:440 neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles.
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:913 atrophic muscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.
DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles.
DOID:0050692 Brody myopathy A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal 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.

14 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:450 DOID:11722
is_a DOID:9884 DOID:11722
is_a DOID:0050692 DOID:11722
is_a DOID:7 DOID:11722
is_a DOID:0080000 DOID:11722
is_a DOID:4 DOID:11722
is_a DOID:440 DOID:11722
is_a DOID:870 DOID:11722
is_a DOID:574 DOID:11722
is_a DOID:66 DOID:11722
is_a DOID:423 DOID:11722
is_a DOID:863 DOID:11722
is_a DOID:17 DOID:11722
is_a DOID:913 DOID:11722

4 Synonyms

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