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Metadata
ID DOID:2512
Name nevoid basal cell carcinoma syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/19533801, https://www.ncbi.nlm.nih.gov/pubmed/8658145, https://www.ncbi.nlm.nih.gov/pubmed/9931336
Xrefs

GARD:7166

MEDDRA:10062804

MESH:D001478

NCI:C2892

OMIM:109400

ORDO:377

SNOMEDCT_US_2019_09_01:69408002

UMLS_CUI:C0004779

Subsets

NCIthesaurus

Synonyms

basal cell nevus syndrome [EXACT]

Gorlin syndrome [EXACT]

NBCCS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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