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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


show annotations for term's descendants           Sort by:
Congenital Indifference to Pain, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive		 ClinVar PMID:15955112 PMID:17167479 PMID:17470132 PMID:18060017 PMID:18414213 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP
EXP		 ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15955112 PMID:17167479 PMID:17470132 PMID:18060017 PMID:18414213 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      Congenital Pain Insensitivity 15
        Congenital Indifference to Pain, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        central nervous system disease 38436
          neurodegenerative disease 7869
            Nervous System Heredodegenerative Disorders 4904
              hereditary sensory neuropathy 100
                hereditary sensory and autonomic neuropathy type 2 27
                  Congenital Indifference to Pain, Autosomal Recessive 2
paths to the root