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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:32497488 PMID:32902915 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Urban Schosser Spohn Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          skin disease 3754
            hair disease 255
              hypotrichosis 126
                alopecia 90
                  Urban Schosser Spohn Syndrome 1
paths to the root