Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	ADRENOCORTICAL CARCINOMA, HEREDITARY
Synonyms	ADCC
ID	http://purl.bioontology.org/ontology/OMIM/202300
altLabel	ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC
cui	C1859973 C1859972
Gene Locus	17p13.1
Gene Symbol	BCC7 BMFS5 P53 TP53 LFS1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU061374 http://purl.bioontology.org/ontology/OMIM/MTHU061373
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	202300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	ADRENOCORTICAL CARCINOMA, HEREDITARY
Scope Statement	Caused by mutation in the tumor protein p53 gene (TP53, 191170.0040) [MOLECULAR BASIS]
tui	T191

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C565973	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C565972	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0008734	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008734	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0008734	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008734	OBA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565972	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0008734	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008734	KTAO	LOOM
http://purl.bioontology.org/ontology/MESH/C565972	MESH	LOOM