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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:Congenital Indifference to Pain, Autosomal Recessive
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Accession:DOID:9008324 term browser browse the term
Synonyms:exact_synonym: Asymbolia for Pain;   CIP;   Congenital Analgesia, Autosomal Recessive
 narrow_synonym: HSAN2D;   hereditary sensory and autonomic neuropathy type IID
 primary_id: MESH:C565467
 alt_id: MIM:243000


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Congenital Indifference to Pain, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:15955112 PMID:17167479 PMID:17470132 PMID:18414213 PMID:18518989 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Congenital Pain Insensitivity 12
        Congenital Indifference to Pain, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          neurodegenerative disease 5008
            Nervous System Heredodegenerative Disorders 3346
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 2 10
                  Congenital Indifference to Pain, Autosomal Recessive 1
paths to the root