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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:schwannomatosis 1
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Accession:DOID:0070480 term browser browse the term
Definition:A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)
Synonyms:exact_synonym: SMARCB1-related schwannomatosis;   SWN1;   SWNTS1
 narrow_synonym: SCHWANNOMATOSIS 1, SOMATIC
 primary_id: OMIM:162091
 xref: NCI:C186703


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schwannomatosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic ClinVar
OMIM		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      RASopathy 257
        schwannomatosis 25
          schwannomatosis 1 2
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
            skin disease 3968
              Genetic Skin Diseases 1852
                ectodermal dysplasia 542
                  Neurocutaneous Syndromes 360
                    neurofibromatosis 55
                      schwannomatosis 25
                        schwannomatosis 1 2
paths to the root