OBO ID: DOID:2512
Term Name: nevoid basal cell carcinoma syndrome Search Ontology:
Synonyms:
  • basal cell nevus syndrome
  • Gorlin syndrome
  • NBCCS
Definition: A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively. (3)
References:
  • GARD:7166
  • MEDDRA:10062804
  • MESH:D001478
  • NCI:C2892
  • OMIM:109400
  • ORDO:377
  • SNOMEDCT_US_2020_09_01:69408002
  • UMLS_CUI:C0004779
Ontology: Human Disease   (DOID:2512)
OTHER nevoid basal cell carcinoma syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTCH1 Basal cell nevus syndrome 109400
PTCH2 Basal cell nevus syndrome 109400
SUFU Basal cell nevus syndrome 109400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None