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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: MIM: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 HLA-A major histocompatibility complex, class I, A IEP protein:increased expression:peripheral blood (human) RGD PMID:32045706 RGD:329961316 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    syndrome 29860
      Melkersson-Rosenthal syndrome 1
Path 2
Term Annotations click to browse term
  disease 97458
    Pathological Conditions, Signs and Symptoms 53753
      Signs and Symptoms 35622
        Neurologic Manifestations 32033
          sensory system disease 21132
            mouth disease 2679
              lip disease 797
                cheilitis 4
                  Melkersson-Rosenthal syndrome 1
paths to the root