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Details
Link-It Detail - Disease - Proteus Syndrome
Debug Stats
  • ### Total Build Time: 171 ms 29.355 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 375 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 10.605 KB
  • CONCEPT_RELATIONSHIPS gt=115 ms Completed: 115 ms rowSize= 13.366 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.474 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Proteus Syndrome C0085261
Definition (1)
A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth.
Semantic Types (1)
Neoplastic Process (T191)
Parents (4)
img Bone Diseases, Developmental C0005941
img Hamartoma Syndrome, Multiple C0018553
img Abnormalities, Multiple C0000772
img Limb Deformities, Congenital C0206762
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276724img Hamartoma Syndrome, Multiple C0018553
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hamartoma Syndrome, Multiple C0018553
img Neoplasms C0027651img Hamartoma C00185524img Hamartoma Syndrome, Multiple C0018553
img Neoplasms C0027651img Neoplasms, Multiple Primary C00276634img Hamartoma Syndrome, Multiple C0018553
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Limb Deformities, Congenital C0206762
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Limb Deformities, Congenital C0206762
Relationships (33)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 26
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
entry_​version_​of : 1
inheritance_​type_​of : 1
isa : 2
manifestation_​of : 16
mapped_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_PHEN19img genetic aspects C0017399
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_CHEM6img Phosphoric Monoester Hydrolases C0031678
DISO_to_CHEM5img Proteins, Tumor Suppressor C0597611
DISO_to_DISO4img Neurofibromatosis 1 C0027831
DISO_to_ANAT3img Fingers C0016129
DISO_to_CHEM3img Proto-Oncogene Proteins c-akt C0164786
DISO_to_DISO3img Hamartoma Syndrome, Multiple C0018553
DISO_to_DISO3img Vascular Malformations C0158570
DISO_to_PHYS3img Mutation C0026882
DISO_to_DISOmanifestation_ofimg Benign lymphangioma C0024221
DISO_to_DISOmanifestation_ofimg Congenital anomaly of brain C0266449
DISO_to_DISOmanifestation_ofimg Congenital hemihypertrophy C0332890
DISO_to_DISOmanifestation_ofimg Depigmentation/hyperpigmentation C1867618
DISO_to_DISOmanifestation_ofimg Epibulbar dermoid C1867616
DISO_to_DISOmanifestation_ofimg Generalized, unilateral or localized overgrowth of any tissue C1867614
DISO_to_DISOmanifestation_ofimg Hemangiomata, especially thorax and upper abdomen C1867619
DISO_to_DISOmanifestation_ofimg Hyperostoses of calvaria, facial bones, and mandible C1867615
DISO_to_DISOmanifestation_ofimg Hypertrophy of skin of soles C1867617
DISO_to_DISOinheritance_type_ofimg Isolated cases C1853237
DISO_to_DISOmanifestation_ofimg Kyphoscoliosis deformity of spine C0575158
DISO_to_DISOmanifestation_ofimg Lipoma C0023798
DISO_to_DISOmanifestation_ofimg Macrocephaly C0221355
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=1000, Pubmed Id: 11476065, UMLKSK CUI: C0085261
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085261Proteus Syndrome0self