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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:Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
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Accession:DOID:9002421 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. (OMIM)
Synonyms:exact_synonym: MCM3AP-RELATED CONDITION;   PNRIID
 primary_id: OMIM:618124



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Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28633435 More... NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development ClinVar PMID:25741868 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Neurodevelopmental Disorders 6852
        intellectual disability 4306
          Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            disease of mental health 8327
              developmental disorder of mental health 5559
                specific developmental disorder 4525
                  intellectual disability 4306
                    Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
paths to the root