WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110187 Charcot-Marie-Tooth disease type 4K Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.
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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: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:0050541 Charcot-Marie-Tooth disease type 4 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance.
DOID:0110187 Charcot-Marie-Tooth disease type 4K A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.

13 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050541 DOID:0110187
is_a DOID:0050737 DOID:0110187
is_a DOID:0050739 DOID:0110187
is_a DOID:0050177 DOID:0110187
is_a DOID:4 DOID:0110187
is_a DOID:10595 DOID:0110187
is_a DOID:7 DOID:0110187
is_a DOID:863 DOID:0110187
is_a DOID:630 DOID:0110187
is_a DOID:17 DOID:0110187
is_a DOID:574 DOID:0110187
is_a DOID:870 DOID:0110187
is_a DOID:440 DOID:0110187

6 Synonyms

Name Type
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K synonym
autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K synonym
CMT4K synonym
SURF1-related Charcot-Marie-Tooth disease type 4 synonym
SURF1-related CMT4 synonym
SURF1-related severe demyelinating Charcot-Marie-Tooth disease synonym