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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:0081075 term browser browse the term
Definition:A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)
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: DOID:9007785;   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 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar PMID:25741868 PMID:29253101 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:29253101 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Marsili syndrome 3
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                Marsili syndrome 3
paths to the root