WormMine: DiseaseOntology DOID:0050557 congenital muscular dystrophy Disease Ontology

Name
Disease Ontology

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: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:0080000	muscular disease	A musculoskeletal system disease that affects the muscles.

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