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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 15992
    Developmental Diseases 9280
      Neurodevelopmental Disorders 4294
        intellectual disability 1923
          PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    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.