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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
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Accession:DOID:13482 term browser 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: MIM:176920
 xref: GARD:7475;   NCI:C85032;   ORDO:744
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Proteus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO
ISS		 DNA:missense mutation: :p.E17K (human)
CTD Direct Evidence: marker/mechanism
OMIM:176920
ClinVar Annotator: match by term: Proteus syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:17611497 PMID:18954143 PMID:21793738 PMID:23237847 PMID:25741868 More... RGD:5509063 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G 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 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        Proteus syndrome 2
          Macrocephaly Mesodermal Hamartoma Spectrum 0
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Proteus syndrome 2
                Macrocephaly Mesodermal Hamartoma Spectrum 0
paths to the root