About: Nevoid Basal Cell Carcinoma Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Nevoid Basal Cell Carcinoma Syndrome
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Nevoid Basal Cell Carcinoma Syndrome
UMLS_CUI
  • C0004779
ALT_DEFINITION
  • A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.NCI-GLOSS
Legacy_Concept_Name
  • Basal_Cell_Nevus_Syndrome
FULL_SYN
  • basal cell nevus syndromePTNCI-GLOSSCDR0000256555
  • Basal Cell Nevus SyndromeSYNCI
  • Nevoid Basal Cell Carcinoma SyndromePTNCI
  • Gorlin SyndromeSYNCI
  • Gorlin syndromePTNCI-GLOSSCDR0000322806
  • nevoid basal cell carcinoma syndromePTNCI-GLOSSCDR0000442897
  • Gorlin-Goltz SyndromeSYNCI
DEFINITION
  • An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.NCI
code
  • C2892
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