WormMine: DiseaseOntology DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.

1 Ontology

• Name: Disease Ontology

13 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: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:12377	spinal muscular atrophy	A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
DOID:231	motor neuron disease	A neurodegenerative disease that is located_in the motor neurons.
DOID:1289	neurodegenerative disease	A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:0111198	autosomal dominant distal hereditary motor neuronopathy	A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5	An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.

12 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0111198	DOID:0111203
is_a	DOID:0050739	DOID:0111203
is_a	DOID:231	DOID:0111203
is_a	DOID:1289	DOID:0111203
is_a	DOID:4	DOID:0111203
is_a	DOID:331	DOID:0111203
is_a	DOID:7	DOID:0111203
is_a	DOID:0050736	DOID:0111203
is_a	DOID:630	DOID:0111203
is_a	DOID:0050177	DOID:0111203
is_a	DOID:863	DOID:0111203
is_a	DOID:12377	DOID:0111203

12 Synonyms

• Name: distal spinal muscular atrophy with upper limb predominance
• Type: synonym

• Name: DSMAV
• Type: synonym

• Name: HMN5
• Type: synonym

• Name: DOID:0111204
• Type: alt_id

• Name: DHMN5
• Type: synonym

• Name: distal hereditary motor neuronopathy type 5
• Type: synonym

• Name: distal hereditary motor neuronopathy type 5A
• Type: synonym

• Name: distal hereditary motor neuropathy type V
• Type: synonym

• Name: distal HMN V
• Type: synonym

• Name: distal HMN VA
• Type: synonym

• Name: distal spinal muscular atrophy type V
• Type: synonym

• Name: distal spinal muscular atrophy type VA
• Type: synonym