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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:Marsili syndrome
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Accession:DOID:9007785 term browser browse the term
Definition:An autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin.
Synonyms:exact_synonym: Congenital Analgesia, Autosomal Dominant;   INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT;   Indifference to Pain, Congenital, Autosomal Dominant;   MARSIS
 narrow_synonym: IMPAIRED THERMAL SENSITIVITY
 primary_id: MESH:C564128
 alt_id: OMIM:147430
For additional species annotation, visit the Alliance of Genome Resources.


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Marsili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Impaired thermal sensitivity ClinVar PMID:28492532, PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar PMID:29253101 NCBI chr15:33,755,157...33,759,117
Ensembl chr15:33,755,478...33,759,115
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar
OMIM
PMID:29253101 NCBI chr15:33,719,313...33,752,665
Ensembl chr15:33,720,701...33,752,665
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Congenital Pain Insensitivity 11
        Marsili syndrome 3
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          Congenital Pain Insensitivity 11
            Marsili syndrome 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.