WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0112374 muscular dystrophy-dystroglycanopathy Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.

1 Ontology

Name
Disease Ontology

16 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:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0050557 congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
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:0112374 muscular dystrophy-dystroglycanopathy A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.

41 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0112374 DOID:0050559
is_a DOID:0112374 DOID:0050588
is_a DOID:0112374 DOID:0110635
is_a DOID:0112374 DOID:0110637
is_a DOID:0112374 DOID:0111229
is_a DOID:0112374 DOID:0111230
is_a DOID:0112374 DOID:0111231
is_a DOID:0112374 DOID:0111232
is_a DOID:0112374 DOID:0111233
is_a DOID:0112374 DOID:0111234
is_a DOID:0112374 DOID:0111235
is_a DOID:0112374 DOID:0111236
is_a DOID:0112374 DOID:0111237
is_a DOID:0112374 DOID:0111238
is_a DOID:0112374 DOID:0111239
is_a DOID:0112374 DOID:0111240
is_a DOID:0112374 DOID:0111241
is_a DOID:0112374 DOID:0111242
is_a DOID:0050557 DOID:0112374
is_a DOID:9884 DOID:0112374
is_a DOID:0080015 DOID:0112374
is_a DOID:0050692 DOID:0112374
is_a DOID:17 DOID:0112374
is_a DOID:913 DOID:0112374
is_a DOID:574 DOID:0112374
is_a DOID:66 DOID:0112374
is_a DOID:423 DOID:0112374
is_a DOID:863 DOID:0112374
is_a DOID:0080000 DOID:0112374
is_a DOID:7 DOID:0112374

1 Synonyms

Name Type
MDDG synonym