Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	PROTEUS SYNDROME
Synonyms	ELATTOPROTEUS SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/176920
altLabel	ELATTOPROTEUS SYNDROME GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY
cui	C0085261 C1867610
Gene Locus	14q32.3
Gene Symbol	CWS6 AKT1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU045249 http://purl.bioontology.org/ontology/OMIM/MTHU015913 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU036519 http://purl.bioontology.org/ontology/OMIM/MTHU002234 http://purl.bioontology.org/ontology/OMIM/MTHU003000 http://purl.bioontology.org/ontology/OMIM/MTHU045251 http://purl.bioontology.org/ontology/OMIM/MTHU015908 http://purl.bioontology.org/ontology/OMIM/MTHU002014 http://purl.bioontology.org/ontology/OMIM/MTHU045253 http://purl.bioontology.org/ontology/OMIM/MTHU033183 http://purl.bioontology.org/ontology/OMIM/MTHU015909 http://purl.bioontology.org/ontology/OMIM/MTHU045247 http://purl.bioontology.org/ontology/OMIM/MTHU015902 http://purl.bioontology.org/ontology/OMIM/MTHU001049 http://purl.bioontology.org/ontology/OMIM/MTHU030201 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU045261 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU045254 http://purl.bioontology.org/ontology/OMIM/MTHU015911 http://purl.bioontology.org/ontology/OMIM/MTHU045256 http://purl.bioontology.org/ontology/OMIM/MTHU045257 http://purl.bioontology.org/ontology/OMIM/MTHU045248 http://purl.bioontology.org/ontology/OMIM/MTHU015906 http://purl.bioontology.org/ontology/OMIM/MTHU002160 http://purl.bioontology.org/ontology/OMIM/MTHU015910 http://purl.bioontology.org/ontology/OMIM/MTHU002602 http://purl.bioontology.org/ontology/OMIM/MTHU002334 http://purl.bioontology.org/ontology/OMIM/MTHU045252 http://purl.bioontology.org/ontology/OMIM/MTHU015912 http://purl.bioontology.org/ontology/OMIM/MTHU019524 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU015901 http://purl.bioontology.org/ontology/OMIM/MTHU045250 http://purl.bioontology.org/ontology/OMIM/MTHU015900 http://purl.bioontology.org/ontology/OMIM/MTHU015904 http://purl.bioontology.org/ontology/OMIM/MTHU015907 http://purl.bioontology.org/ontology/OMIM/MTHU045255
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	176920
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PROTEUS SYNDROME
Scope Statement	Sporadic occurrence [MISCELLANEOUS] Caused by somatic mutation in the AKT serine/threonine kinase 1 gene (AKT1, 164730.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Mosaic distribution of lesions [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
tui	T047 T191

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10074067	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/C537716	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10074067	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10074067	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/23150001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D016715	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D016715	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01028	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/23150001	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003460	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/X207l	RCD	CUI
http://purl.obolibrary.org/obo/MONDO_0008318	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008318	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_13482	DOID	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10074067	MEDDRA	LOOM
http://purl.obolibrary.org/obo/DERMO_0000580	DERMO	LOOM
http://identifiers.org/omim/176920	REXO	LOOM
http://identifiers.org/omim/176920	GEXO	LOOM
http://identifiers.org/omim/176920	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.585.620	RH-MESH	LOOM
http://www.gamuts.net/entity#Proteus_syndrome	GAMUTS	LOOM
http://purl.bioontology.org/ontology/ISSVA/ISSVA_124	ISSVA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Proteus_Syndrome	CSEO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085261	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016715	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_13482	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_13482	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_13482	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_13482	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_13482	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_13482	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.585.620	RH-MESH	LOOM
http://purl.bioontology.org/ontology/RCTV2/PK64.00	RCTV2	LOOM
http://purl.obolibrary.org/obo/OMIT_0017163	OMIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/23150001	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MESH/D016715	MESH	LOOM
http://purl.jp/bio/4/id/200906095624450598	IOBC	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15523	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.740	RH-MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C85032	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008318	DOVES	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01028	SNMI	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.651.435.500	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_565	HRDO	LOOM
http://purl.org/skeletome/bonedysplasia#Proteus_syndrome	BDO	LOOM
http://purl.bioontology.org/ontology/RCD/X207l	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.445.435.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_176920	CCO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85032	NCIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13482	NATPRO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.750	RH-MESH	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14726	DERMLEX	LOOM
http://www.orpha.net/ORDO/Orphanet_744	ORDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038150	PMAPP-PMO	LOOM