Proteus syndrome - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Proteus syndrome	go back to main search page
Accession:	DOID:13482	browse the term
Definition:	A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. (DO)
Synonyms:	exact_synonym:	Elephant Man Disease; Proteus like syndrome; Wiedemann's syndrome; partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly
	narrow_synonym:	ELATTOPROTEUS SYNDROME
	primary_id:	MESH:D016715
	alt_id:	OMIM:176920
	xref:	GARD:7475; NCI:C85032; ORDO:744
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

Proteus syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Akt1

AKT serine/threonine kinase 1

ISO

DNA:missense mutation: :p.E17K (human)
ClinVar Annotator: match by term: Proteus syndrome

ClinVar
OMIM
RGD

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

RGD:5509063

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

Pten

phosphatase and tensin homolog

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proteus-like syndrome

CTD
ClinVar

PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 More...

NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838

Macrocephaly Mesodermal Hamartoma Spectrum