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 7 (DOID:0111199)
Annotations: Rat: (8) Mouse: (8) Human: (33) Chinchilla: (6) Bonobo: (8) Dog: (9) Squirrel: (7) Pig: (9) Naked Mole-rat: (5) Green Monkey: (9)
Parent Terms Term With Siblings Child Terms
Alstrom syndrome  
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  
autosomal dominant distal hereditary motor neuronopathy 6  
autosomal dominant distal hereditary motor neuronopathy 7  
An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)
autosomal dominant distal hereditary motor neuronopathy 8  
autosomal dominant distal hereditary motor neuronopathy 9  
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Charcot-Marie-Tooth disease +   
Charcot-Marie-Tooth Disease Type 4A, Axonal Form  
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
essential tremor 2 
Familial Vocal Cord Dysfunction 
Giant Axonal Neuropathy +   
Hagemoser Weinstein Bresnick Syndrome 
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 
hereditary neuropathy with liability to pressure palsies  
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive  
hereditary spastic paraplegia +   
Hereditary Thermosensitive Neuropathy 
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Laryngeal Adductor Paralysis 
PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE  
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
Refsum disease +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Slowed Nerve Conduction Velocity, Autosomal Dominant  
SPOAN syndrome  
Tamari Goodman Syndrome 
Tucker Syndrome 

Synonyms
Exact Synonyms: DHMN7A ;   DHMNVP ;   DHMNVPy ;   HMN VIIA ;   HMN7A ;   HMND7 ;   Harper-Young myopath ;   Harper-Young myopathy ;   dHMN7 ;   distal hereditary motor neuronopathy type 7 ;   distal hereditary motor neuronopathy type 7A ;   distal hereditary motor neuronopathy type VIIA ;   distal hereditary motor neuronopathy, Harding type VIIA ;   distal hereditary motor neuronopathy, autosomal dominant 7 ;   distal hereditary motor neuropathy type VIIA ;   distal hereditary motor neuropathy, Harding type VIIA ;   distal spinal muscular atrophy with vocal cord paralysis ;   distal spinal muscular atrophy with vocal cord paralysis type 7A
Primary IDs: MESH:C563562
Alternate IDs: DOID:0111201 ;   OMIM:158580
Xrefs: ORDO:139589
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23141292 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7420092 "DO" "DO"

paths to the root