WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
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1 Ontology

Name
Disease Ontology

14 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:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance.
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.
DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.

13 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0080012 DOID:0110212
is_a DOID:0050542 DOID:0110212
is_a DOID:0050735 DOID:0110212
is_a DOID:17 DOID:0110212
is_a DOID:7 DOID:0110212
is_a DOID:863 DOID:0110212
is_a DOID:630 DOID:0110212
is_a DOID:4 DOID:0110212
is_a DOID:0050177 DOID:0110212
is_a DOID:574 DOID:0110212
is_a DOID:870 DOID:0110212
is_a DOID:440 DOID:0110212
is_a DOID:10595 DOID:0110212

8 Synonyms

Name Type
CMTX4 synonym
Cowchock syndrome synonym
NADMR synonym
NAMSD synonym
X-linked Charcot-Marie-Tooth disease type 4 synonym
axonal motor sensory neuropathy with deafness and mental retardation synonym
Charcot-Marie-Tooth disease with deafness and mental retardation synonym
CMT4X synonym