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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:nevoid basal cell carcinoma syndrome 1
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Accession:DOID:0070365 term browser browse the term
Definition:A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: BCNS1;   basal cell nevus syndrome 1
 primary_id: OMIM:109400
 alt_id: DOID:9005987


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nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        nevoid basal cell carcinoma syndrome 15
          nevoid basal cell carcinoma syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Neoplasms 509
                skin cancer 269
                  skin carcinoma 173
                    basal cell carcinoma 159
                      nevoid basal cell carcinoma syndrome 15
                        nevoid basal cell carcinoma syndrome 1 1
paths to the root