WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050542 Charcot-Marie-Tooth disease type X Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.

1 Ontology

Name
Disease Ontology

9 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:10595 Charcot-Marie-Tooth disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
DOID:0050542 Charcot-Marie-Tooth disease type X A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.

14 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:10595 DOID:0050542
is_a DOID:17 DOID:0050542
is_a DOID:574 DOID:0050542
is_a DOID:870 DOID:0050542
is_a DOID:440 DOID:0050542
is_a DOID:4 DOID:0050542
is_a DOID:863 DOID:0050542
is_a DOID:7 DOID:0050542
is_a DOID:0050542 DOID:0110207
is_a DOID:0050542 DOID:0110208
is_a DOID:0050542 DOID:0110209
is_a DOID:0050542 DOID:0110210
is_a DOID:0050542 DOID:0110211
is_a DOID:0050542 DOID:0110212

0 Synonyms