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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
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
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
 alt_id: OMIM:147430
 replaced_by: DOID:0081075


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