Online Mendelian Inheritance in Man - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610475 http://purl.bioontology.org/ontology/OMIM/610475
Preferred Name	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
Synonyms	CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2 PPNAD2 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2 PPNAD2 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
prefLabel	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
Gene Symbol	PPNAD2 PDE11A2 PDE11A1 PDE11A3 PDE11A
Scope Statement	Genetic heterogeneity, see PPNAD1 (610489) [MISCELLANEOUS] Caused by mutation in the phosphodiesterase 11A gene (PDE11A, 604961.0001) [MOLECULAR BASIS] Manifestations of Cushing syndrome may be mild [MISCELLANEOUS] Onset in childhood or young adulthood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU020035 http://purl.bioontology.org/ontology/OMIM/MTHU020037 http://purl.bioontology.org/ontology/OMIM/MTHU037212 http://purl.bioontology.org/ontology/OMIM/MTHU020040 http://purl.bioontology.org/ontology/OMIM/MTHU005937 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU004473 http://purl.bioontology.org/ontology/OMIM/MTHU016145 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU020034 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU003269 http://purl.bioontology.org/ontology/OMIM/MTHU020036 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU020039 http://purl.bioontology.org/ontology/OMIM/MTHU020038 http://purl.bioontology.org/ontology/OMIM/MTHU020042 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU020041 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	2q31.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610475
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1864851
OMIM Entry Type	3
OMIM MimType Value	pound

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