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ONTOLOGY REPORT - ANNOTATIONS


Term:PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
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Accession:DOID:9009256 term browser browse the term
Definition:An early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients.
Synonyms:exact_synonym: PNRIID;   autosomal recessive peripheral neuropathy with or without impaired intellectual development
 primary_id: OMIM:618124
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PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm3ap minichromosome maintenance complex component 3 associated protein JBrowse link 20 12,879,304 12,917,069 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Neurodevelopmental Disorders 4083
        intellectual disability 1712
          PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.