Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
autosomal dominant distal hereditary motor neuronopathy 5 (DOID:0111203)
Annotations: Rat: (4) Mouse: (4) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4) Naked Mole-rat: (4) Green Monkey: (4)
Parent Terms Term With Siblings Child Terms
autosomal dominant distal hereditary motor neuronopathy 1  
autosomal dominant distal hereditary motor neuronopathy 10  
autosomal dominant distal hereditary motor neuronopathy 11  
autosomal dominant distal hereditary motor neuronopathy 12  
autosomal dominant distal hereditary motor neuronopathy 13  
autosomal dominant distal hereditary motor neuronopathy 14  
autosomal dominant distal hereditary motor neuronopathy 2  
autosomal dominant distal hereditary motor neuronopathy 3  
autosomal dominant distal hereditary motor neuronopathy 4  
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. (DO)
autosomal dominant distal hereditary motor neuronopathy 6  
autosomal dominant distal hereditary motor neuronopathy 7  
autosomal dominant distal hereditary motor neuronopathy 8  
autosomal dominant distal hereditary motor neuronopathy 9  

Synonyms
Exact Synonyms: DHMN VA ;   DHMN5 ;   DHMN5A ;   DSMAV ;   DSMAVA ;   Dhmn-V ;   Distal Hereditary Motor Neuronopathy, Type V ;   Distal Hereditary Motor Neuropathy, Type V ;   Distal Spinal Muscular Atrophy, Type V ;   HMN 5A ;   HMN V ;   HMN VA ;   HMN5 ;   HMN5A ;   HMND5 ;   distal HMN V ;   distal HMN VA ;   distal hereditary motor neuronopathy type 5 ;   distal hereditary motor neuronopathy type 5A ;   distal hereditary motor neuronopathy type VA ;   distal hereditary motor neuronopathy, Harding type VA ;   distal hereditary motor neuropathy, Harding type VA ;   distal hereditary motor neuropathy, type VA ;   distal spinal muscular atrophy, Harding type V ;   distal spinal muscular atrophy, type VA ;   distal spinal muscular atrophy, with upper limb predominance
Primary IDs: MESH:C563443
Alternate IDs: DOID:0111204 ;   OMIM:600794
Xrefs: ORDO:139536
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO" "DO"

paths to the root