WormMine: DiseaseOntology DOID:0110770 hereditary spastic paraplegia 17 Disease Ontology

Name
Disease Ontology

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: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:2476	hereditary spastic paraplegia	A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
DOID:607	paraplegia
DOID:0110770	hereditary spastic paraplegia 17	A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.

Name	Type
spastic paraplegia-amyotrophy of hands and feet	synonym
SPG17	synonym
autosomal dominant spastic paraplegia 17	synonym
autosomal dominant spastic paraplegia type 17	synonym
dHMN5B	synonym
distal hereditary motor neuropathy type 5B	synonym
Silver spastic paraplegia syndrome	synonym
Silver syndrome	synonym
spastic paraplegia with amyotrophy of hands and feet	synonym

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