WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0112375 muscular dystrophy-dystroglycanopathy type B Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.

1 Ontology

Name
Disease Ontology

11 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: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.
DOID:0112374 muscular dystrophy-dystroglycanopathy A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
DOID:0112375 muscular dystrophy-dystroglycanopathy type B A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.

18 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0112375 DOID:0050588
is_a DOID:0112375 DOID:0110635
is_a DOID:0112375 DOID:0110637
is_a DOID:0112374 DOID:0112375
is_a DOID:9884 DOID:0112375
is_a DOID:66 DOID:0112375
is_a DOID:423 DOID:0112375
is_a DOID:0080015 DOID:0112375
is_a DOID:7 DOID:0112375
is_a DOID:0080000 DOID:0112375
is_a DOID:17 DOID:0112375
is_a DOID:4 DOID:0112375
is_a DOID:0050557 DOID:0112375
is_a DOID:0112375 DOID:0112376
is_a DOID:0112375 DOID:0112377
is_a DOID:0112375 DOID:0112378
is_a DOID:0112375 DOID:0112379
is_a DOID:0112375 DOID:0112380

1 Synonyms

Name Type
MDDGB synonym