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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:Urban Schosser Spohn Syndrome
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Accession:DOID:9000038 term browser browse the term
Synonyms:exact_synonym: HMD;   Hereditary mucoepithelial dysplasia
 primary_id: MESH:C536476
 alt_id: OMIM:158310


show annotations for term's descendants           Sort by:
Urban Schosser Spohn Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia OMIM
ClinVar		 PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Urban Schosser Spohn Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              hair disease 314
                hypotrichosis 136
                  alopecia 86
                    Urban Schosser Spohn Syndrome 1
paths to the root