WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070467 carpal tunnel syndrome 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.

1 Ontology

Name
Disease Ontology

11 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: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:12169 carpal tunnel syndrome A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
DOID:573 nerve compression syndrome  
DOID:0070467 carpal tunnel syndrome 2 A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0070467
is_a DOID:12169 DOID:0070467
is_a DOID:630 DOID:0070467
is_a DOID:0050177 DOID:0070467
is_a DOID:574 DOID:0070467
is_a DOID:573 DOID:0070467
is_a DOID:0050739 DOID:0070467
is_a DOID:4 DOID:0070467
is_a DOID:863 DOID:0070467
is_a DOID:7 DOID:0070467

1 Synonyms

Name Type
CTS2 synonym