WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:3191 nemaline myopathy Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.

1 Ontology

Name
Disease Ontology

8 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: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:0081337 congenital myopathy A myopathy that is characterized by hypotonia and weakness, usually present from birth.
DOID:3191 nemaline myopathy A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.

20 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:3191 DOID:0081374
is_a DOID:3191 DOID:0081375
is_a DOID:3191 DOID:0110926
is_a DOID:3191 DOID:0110927
is_a DOID:3191 DOID:0110928
is_a DOID:3191 DOID:0110929
is_a DOID:3191 DOID:0110930
is_a DOID:3191 DOID:0110931
is_a DOID:3191 DOID:0110932
is_a DOID:3191 DOID:0110933
is_a DOID:3191 DOID:0110934
is_a DOID:3191 DOID:0110935
is_a DOID:3191 DOID:0110936
is_a DOID:0081337 DOID:3191
is_a DOID:17 DOID:3191
is_a DOID:66 DOID:3191
is_a DOID:4 DOID:3191
is_a DOID:0080000 DOID:3191
is_a DOID:7 DOID:3191
is_a DOID:423 DOID:3191

4 Synonyms

Name Type
Nemaline body disease synonym
nemaline rod myopathy synonym
rod body disease synonym
rod myopathy synonym