WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050759 myotonic dystrophy type 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.

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:0050759 myotonic dystrophy type 2 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.

14 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:450 DOID:0050759
is_a DOID:574 DOID:0050759
is_a DOID:870 DOID:0050759
is_a DOID:440 DOID:0050759
is_a DOID:4 DOID:0050759
is_a DOID:423 DOID:0050759
is_a DOID:863 DOID:0050759
is_a DOID:7 DOID:0050759
is_a DOID:9884 DOID:0050759
is_a DOID:0050692 DOID:0050759
is_a DOID:913 DOID:0050759
is_a DOID:17 DOID:0050759
is_a DOID:0080000 DOID:0050759
is_a DOID:66 DOID:0050759

0 Synonyms