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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

MESH:C566472

MIM:610475

UMLS_CUI:C1864851

SKOS

exactMatch MIM:610475

exactMatch UMLS_CUI:C1864851

exactMatch MESH:C566472

Subsets

DO_rare_slim

Synonyms

PPNAD2 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary pigmented nodular adrenocortical disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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