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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 Qualifiers 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 chrNW_004624747:5,923,827...6,011,276
Ensembl chrNW_004624747:5,923,834...6,011,939 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic OMIM
ClinVar		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    syndrome 9294
      RASopathy 251
        schwannomatosis 25
          schwannomatosis 1 2
Path 2
Term Annotations click to browse term
  disease 14089
    Pathological Conditions, Signs and Symptoms 10991
      Signs and Symptoms 9103
        Neurologic Manifestations 8807
          sensory system disease 6154
            skin disease 3489
              Genetic Skin Diseases 1693
                ectodermal dysplasia 504
                  Neurocutaneous Syndromes 338
                    neurofibromatosis 54
                      schwannomatosis 25
                        schwannomatosis 1 2
paths to the root