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Details
Link-It Detail - Disease - Cutis Laxa
Debug Stats
  • ### Total Build Time: 150 ms 40.347 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 319 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 1,002 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.140 KB
  • CONCEPT_RELATIONSHIPS gt=100 ms Completed: 100 ms rowSize= 13.394 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 19.850 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cutis Laxa C0010495
Definition (1)
A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Skin Diseases, Genetic C0037277
img Connective Tissue Diseases C0009782
Ancestral Roots
RootRoot Plus OneDepthParent
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 Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
Relationships (38)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 3
diso_​to_​diso : 27
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 15
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 12
mapped_​to : 7
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN42img genetic aspects C0017399
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_DISO26img Complication Aspects C1171258
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO10img A-760-766 DISORDERS OF THE EYELIDS C0015423
DISO_to_ANAT9img Skin C1123023
DISO_to_CHEM9img Elastin C0013765
DISO_to_PHYS9img Mutation C0026882
DISO_to_CHEM8img Extracellular Matrix Protein C0079323
DISO_to_DISO8img Abnormalities, Multiple C0000772
DISO_to_DISO8img Multiple Myeloma C0026764
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_ANAT6img Eyelid structure C0015426
DISO_to_ANAT5img Elastic Tissue C0013762
DISO_to_CHEM5img Carboxylate Reductases, Pyrroline C0034333
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOisaimg ARCL2 C0268355
DISO_to_DISOmapped_toimg ARCL3A C0268354
DISO_to_DISOisaimg Acquired cutis laxa C0406549
DISO_to_DISOisaimg Cantu's syndrome C0406777
DISO_to_DISOisaimg Congenital/hereditary cutis laxa C1274226
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOused_forimg Cutis Laxa C0010495
DISO_to_DISOisaimg Cutis laxa of lower eyelid C2711771
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0010495
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanB4GALT711285xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanFBLN510516fibulin 5
img OMIM, Score=1000, UMLKSK CUI: C0010495
img GENERIF, Score=734, Pubmed Id: 18185537, UMLKSK CUI: C0010495
img GENERIF, Score=1000, Pubmed Id: 12618961, UMLKSK CUI: C0010495
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanOSMR9180oncostatin M receptor
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanLOX4015lysyl oxidase
img OMIM, Score=858, UMLKSK CUI: C0010495
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0010495
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img OMIM, Score=858, UMLKSK CUI: C0010495
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanGSN2934gelsolin
img OMIM, Score=1000, UMLKSK CUI: C0010495
HumanELN2006elastin
img GENERIF, Score=1000, Pubmed Id: 15381555, UMLKSK CUI: C0010495
img OMIM, Score=1000, UMLKSK CUI: C0010495
img GENERIF, Score=1000, Pubmed Id: 16085695, UMLKSK CUI: C0010495
img OMIM, Score=858, UMLKSK CUI: C0010495
HumanATP7A538ATPase, Cu++ transporting, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0010495
img OMIM, Score=858, UMLKSK CUI: C0010495
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010495Cutis Laxa0self