WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:3635 congenital myasthenic syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

1 Ontology

Name
Disease Ontology

10 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:439 neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
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:3635 congenital myasthenic syndrome A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

37 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:3635 DOID:0080587
is_a DOID:3635 DOID:0110657
is_a DOID:3635 DOID:0110658
is_a DOID:3635 DOID:0110659
is_a DOID:3635 DOID:0110660
is_a DOID:3635 DOID:0110661
is_a DOID:3635 DOID:0110662
is_a DOID:3635 DOID:0110663
is_a DOID:3635 DOID:0110664
is_a DOID:3635 DOID:0110665
is_a DOID:3635 DOID:0110666
is_a DOID:3635 DOID:0110667
is_a DOID:3635 DOID:0110668
is_a DOID:3635 DOID:0110669
is_a DOID:3635 DOID:0110670
is_a DOID:3635 DOID:0110671
is_a DOID:3635 DOID:0110672
is_a DOID:3635 DOID:0110673
is_a DOID:3635 DOID:0110674
is_a DOID:3635 DOID:0110675
is_a DOID:3635 DOID:0110676
is_a DOID:3635 DOID:0110677
is_a DOID:3635 DOID:0110678
is_a DOID:3635 DOID:0110679
is_a DOID:3635 DOID:0110680
is_a DOID:3635 DOID:0110681
is_a DOID:3635 DOID:0110682
is_a DOID:3635 DOID:0110683
is_a DOID:0080015 DOID:3635
is_a DOID:439 DOID:3635

0 Synonyms