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Details
Link-It Detail - Disease - Pseudoxanthoma Elasticum
Debug Stats
  • ### Total Build Time: 209 ms 39.981 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 347 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1.833 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 9.293 KB
  • CONCEPT_RELATIONSHIPS gt=163 ms Completed: 163 ms rowSize= 13.933 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 12.812 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pseudoxanthoma Elasticum C0033847
Definition (1)
rare, progressive inherited disorder resulting from extensive basophilic degeneration of elastic tissue, usually presenting after puberty and involving the skin, eye, and cardiovascular system.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (4)
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
img Hemostatic Disorders C0600502
img Connective Tissue Diseases C0009782
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Hemostatic Disorders C0600502
img Cardiovascular Diseases C0007222img Vascular Diseases C00423734img Hemostatic Disorders C0600502
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
Relationships (71)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 4
diso_​to_​diso : 58
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 17
alias_​of : 1
associated_​with : 1
expanded_​form_​of : 1
isa : 5
location_​of : 2
manifestation_​of : 41
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN89img genetic aspects C0017399
DISO_to_DISO68img Complication Aspects C1171258
DISO_to_PHEN67img genetic aspects C0017399
DISO_to_DISO50img Complication Aspects C1171258
DISO_to_CHEM31img Multidrug Resistance-Associated Proteins C0290741
DISO_to_DISO19img Calcinosis C0006663
DISO_to_CHEM16img ATP-Binding Cassette Transporters C0242738
DISO_to_DISO16img Angioid Streaks C0002982
DISO_to_DISO16img Choroidal Neovascularization C0600518
DISO_to_PHYS13img Mutation C0026882
DISO_to_CHEM12img ANGIOGENESIS INHIB C0596087
DISO_to_DISO11img Calcinosis C0006663
DISO_to_PHYS11img Mutation C0026882
DISO_to_ANAT10img Elastic Tissue C0013762
DISO_to_ANAT10img Skin C1123023
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM9img Antibodies, Monoclonal C0003250
DISO_to_ANATlocation_ofimg Elastic Tissue C0013762
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOmanifestation_ofimg 1. yellowish, flat papules (neck, antecubital and popliteal fossae, axillae, inguinal, and periumbilical areas) C1849608
DISO_to_DISOmanifestation_ofimg 2. yellowish, flat plaques C1849609
DISO_to_DISOmanifestation_ofimg 3. lax, wrinkled skin C1849610
DISO_to_DISOmanifestation_ofimg Absent peripheral pulses C0577850
DISO_to_DISOmanifestation_ofimg Accelerated atherosclerosis C1849618
DISO_to_DISOmanifestation_ofimg Acneiform lesions (rare) C1849612
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanXYLT164131xylosyltransferase I
img GENERIF, Score=734, Pubmed Id: 16133423, UMLKSK CUI: C0033847
img GENERIF, Score=1000, Pubmed Id: 16571645, UMLKSK CUI: C0033847
HumanNR1H27376nuclear receptor subfamily 1, group H, member 2
img GENERIF, Score=694, Pubmed Id: 17045963, UMLKSK CUI: C0033847
HumanSELP6403selectin P (granule membrane protein 140kDa, antigen CD62)
img GENERIF, Score=694, Pubmed Id: 18191640, UMLKSK CUI: C0033847
HumanMYH114629myosin, heavy chain 11, smooth muscle
img GENERIF, Score=1000, Pubmed Id: 11439001, UMLKSK CUI: C0033847
HumanABCC14363ATP-binding cassette, sub-family C (CFTR/MRP), member 1
img GENERIF, Score=1000, Pubmed Id: 11439001, UMLKSK CUI: C0033847
HumanMMP24313matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
img GENERIF, Score=734, Pubmed Id: 15955448, UMLKSK CUI: C0033847
HumanMGP4256matrix Gla protein
img GENERIF, Score=734, Pubmed Id: 18222176, UMLKSK CUI: C0033847
img GENERIF, Score=1000, Pubmed Id: 17724449, UMLKSK CUI: C0033847
HumanICAM13383intercellular adhesion molecule 1
img GENERIF, Score=734, Pubmed Id: 18440309, UMLKSK CUI: C0033847
HumanCFH3075complement factor H
img GENERIF, Score=1000, Pubmed Id: 18627285, UMLKSK CUI: C0033847
HumanGGCX2677gamma-glutamyl carboxylase
img GENERIF, Score=827, Pubmed Id: 19116367, UMLKSK CUI: C0033847
HumanABCC6368ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Click here to display 21 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033847Pseudoxanthoma Elasticum0self