Metadata | |
---|---|
ID | DOID:0070546 |
Name | primary pigmented nodular adrenocortical disease 1 |
Definition | A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. https://pubmed.ncbi.nlm.nih.gov/12213893/ |
Xrefs | |
SKOS |
exactMatch MIM:610489 exactMatch MESH:C566469 exactMatch UMLS_CUI:C1864846 |
Subsets |
DO_rare_slim |
Synonyms |
PPNAD1 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |