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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: PNRIID
 primary_id: OMIM:618124
For additional species annotation, visit the Alliance of Genome Resources.


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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: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:28633435 PMID:28969388 PMID:29982295 PMID:32202298 NCBI chr20:12,879,304...12,917,069
Ensembl chr20:12,879,278...12,917,039
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 3:2,182,191...2,261,890
Ensembl chr 3:2,182,957...2,261,878
Ensembl chr 3:2,182,957...2,261,878
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Neurodevelopmental Disorders 5567
        intellectual disability 3385
          Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            disease of mental health 6932
              developmental disorder of mental health 4273
                specific developmental disorder 3532
                  intellectual disability 3385
                    Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development 2
paths to the root