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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
 broad_synonym: ZFHX2-related condition
 alt_id: DOID:9007785
 xref: MESH:C564128;   MIM:147430;   MONDO:0007828


show annotations for term's descendants           Sort by:
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:25741868 PMID:28492532 PMID:32581362 NCBI chr 8:128,228,424...128,340,749
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 Annotator: match by term: ZFHX2-related condition ClinVar PMID:25741868 PMID:28492532 PMID:29253101 NCBI chr15:32,536,297...32,541,537
Ensembl chr15:28,567,323...28,571,580 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO
ISS		 OMIM:147430
ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant | ClinVar Annotator: match by term: ZFHX2-related condition		 OMIM
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 PMID:29253101 NCBI chr15:32,501,755...32,541,720
Ensembl chr15:28,533,156...28,565,128 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Marsili syndrome 3
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                Marsili syndrome 3
paths to the root