Metadata | |
---|---|
ID | DOID:0070547 |
Name | primary pigmented nodular adrenocortical disease 2 |
Definition | A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. https://pubmed.ncbi.nlm.nih.gov/16767104/ |
Xrefs | |
SKOS |
exactMatch MIM:610475 exactMatch UMLS_CUI:C1864851 exactMatch MESH:C566472 |
Subsets |
DO_rare_slim |
Synonyms |
PPNAD2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |