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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:PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
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Accession:DOID:9003994 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement.
Synonyms:exact_synonym: COMNB
 primary_id: MIM:619903


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PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM
ClinVar		 PMID:25741868 PMID:27904971 PMID:28492532 PMID:31392107 PMID:31754459 More... NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        peripheral nervous system disease 4406
          neuropathy 4192
            motor peripheral neuropathy 1304
              PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          neurodegenerative disease 5079
            Nervous System Heredodegenerative Disorders 3371
              motor peripheral neuropathy 1304
                PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE 1
paths to the root