Metadata | |
---|---|
ID | DOID:0070365 |
Name | nevoid basal cell carcinoma syndrome 1 |
Definition | A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/8658145/, https://www.omim.org/entry/109400 |
Xrefs | |
SKOS |
exactMatch MIM:109400 |
Synonyms |
basal cell nevus syndrome 1 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |