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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:Melkersson-Rosenthal syndrome
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Accession:DOID:1761 term browser browse the term
Definition:An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)
Synonyms:exact_synonym: Cheilitis Granulomatosa;   Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema;   Granulomatous Cheilitis;   MROS;   MRS;   Macrocheilia, Facial Palsy, Edema;   Melkerson Rosenthal Syndrome;   Melkersson Rosenthal Miescher Syndrome;   Melkersson Syndrome;   Melkersson's syndrome;   Miescher Melkersson Rosenthal Granulomatous Cheilitis;   cheilitis granulomatosa of Mescher-Melkersson-Rosenthal
 primary_id: MESH:D008556
 alt_id: OMIM:155900
 xref: EFO:1001039;   GARD:7010;   ICD10CM:G51.2;   NCI:C84886
For additional species annotation, visit the Alliance of Genome Resources.


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Melkersson-Rosenthal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 ISO protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Melkersson-Rosenthal syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            mouth disease 1018
              lip disease 215
                cheilitis 4
                  Melkersson-Rosenthal syndrome 1
paths to the root