WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.
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1 Ontology

Name
Disease Ontology

15 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:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
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:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
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:0050539 Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.

14 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050539 DOID:0110167
is_a DOID:0050736 DOID:0110167
is_a DOID:0050737 DOID:0110167
is_a DOID:17 DOID:0110167
is_a DOID:7 DOID:0110167
is_a DOID:0050739 DOID:0110167
is_a DOID:863 DOID:0110167
is_a DOID:630 DOID:0110167
is_a DOID:0050177 DOID:0110167
is_a DOID:4 DOID:0110167
is_a DOID:574 DOID:0110167
is_a DOID:10595 DOID:0110167
is_a DOID:870 DOID:0110167
is_a DOID:440 DOID:0110167

6 Synonyms

Name Type
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K synonym
autosomal recessive axonal Charcot-Marie-Tooth disease type 2K synonym
autosomal recessive axonal CMT4C4 synonym
autosomal recessive Charcot-Marie-Tooth disease with hoarseness synonym
Charcot-Marie-Tooth neuropathy axonal type 2K synonym
ARCMT2K synonym