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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:distal hereditary motor neuronopathy type 7A
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Accession:DOID:0111201 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. (DO)
Synonyms:exact_synonym: DHMN7A;   HMN VIIA;   HMN7A;   HMND7;   Harper-Young myopath;   Harper-Young myopathy;   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 type 7A
 alt_id: OMIM:158580
 replaced_by: DOID:0111199


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