Metadata | |
---|---|
ID | DOID:0070549 |
Name | primary pigmented nodular adrenocortical disease 4 |
Definition | A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. https://pubmed.ncbi.nlm.nih.gov/24571724, https://pubmed.ncbi.nlm.nih.gov/25924874/ |
Xrefs | |
SKOS |
exactMatch MIM:615830 |
Subsets |
DO_rare_slim |
Synonyms |
chromosome 19p13 duplication syndrome [EXACT] PPNAD4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |