Online Mendelian Inheritance in Man - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615830 http://purl.bioontology.org/ontology/OMIM/615830
Preferred Name	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
Synonyms	CHROMOSOME 19p13 DUPLICATION SYNDROME PPNAD4 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4 ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHROMOSOME 19p13 DUPLICATION SYNDROME PPNAD4 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4 ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC
prefLabel	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
Gene Symbol	CAFD1 PRKACA
Scope Statement	Variable age at onset [MISCELLANEOUS] Caused by duplication of 294 kb to 2.7 Mb including the PRKACA gene on chromosome 19p13 [MOLECULAR BASIS] Somatic mutations occur in adrenal tumor tissue (601639.0001) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU020035 http://purl.bioontology.org/ontology/OMIM/MTHU036369 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU016145 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU047096 http://purl.bioontology.org/ontology/OMIM/MTHU013195 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU047099 http://purl.bioontology.org/ontology/OMIM/MTHU046491 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU020038 http://purl.bioontology.org/ontology/OMIM/MTHU047098 http://purl.bioontology.org/ontology/OMIM/MTHU047095 http://purl.bioontology.org/ontology/OMIM/MTHU047097 http://purl.bioontology.org/ontology/OMIM/MTHU036937 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	19p13.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615830
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4014425
OMIM Entry Type	3
OMIM MimType Value	pound

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