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WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050886 Troyer syndrome Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
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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:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central 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: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: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:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
DOID:2476 hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
DOID:607 paraplegia  

10 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0050737 DOID:0050886
is_a DOID:2476 DOID:0050886
is_a DOID:7 DOID:0050886
is_a DOID:863 DOID:0050886
is_a DOID:0050177 DOID:0050886
is_a DOID:0050739 DOID:0050886
is_a DOID:607 DOID:0050886
is_a DOID:630 DOID:0050886
is_a DOID:331 DOID:0050886
is_a DOID:4 DOID:0050886

8 Synonyms

Name Type
spastic paraplegia 20 synonym
spastic paraplegia type 20 synonym
SPG20 synonym
autosomal recessive spastic paraplegia 20 synonym
autosomal recessive spastic paraplegia Troyer type synonym
autosomal recessive spastic paraplegia type 20 synonym
childhood-onset spastic paraparesis with distal muscle wasting synonym
hereditary spastic paraplegia 20 synonym