Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Lipoid Proteinosis of Urbach and Wiethe
Debug Stats
  • ### Total Build Time: 131 ms 22.855 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 376 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 466 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=52 ms Completed: 52 ms rowSize= 10.490 KB
  • CONCEPT_RELATIONSHIPS gt=37 ms Completed: 37 ms rowSize= 5.763 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 3.426 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.173 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipoid Proteinosis of Urbach and Wiethe C0023795
Definition (1)
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hoarseness C0019825
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Respiratory Tract Diseases C0035242img Laryngeal Diseases C00230515img Hoarseness C0019825
img Otorhinolaryngologic Diseases C0029896img Laryngeal Diseases C00230515img Hoarseness C0019825
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Hoarseness C0019825
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Hoarseness C0019825
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370885img Hoarseness C0019825
img Respiratory Tract Diseases C0035242img Respiration Disorders C00352044img Hoarseness C0019825
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
Relationships (12)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 8
diso_​to_​phen : 2


Relationships:
none : 6
manifestation_​of : 5
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM11img Extracellular Matrix Protein C0079323
DISO_to_CHEM10img Extracellular Matrix Protein C0079323
DISO_to_DISOmanifestation_ofimg Drusen-like fundus lesions C3278446
DISO_to_DISOpermuted_term_ofimg HYALINOSIS CUTIS ET MUCOSAE C0023795
DISO_to_DISOmanifestation_ofimg Itching of eye C0022281
DISO_to_DISOmanifestation_ofimg Moniliform blepharosis C3278445
DISO_to_DISOmanifestation_ofimg Papular infiltration of larynx C3278448
DISO_to_DISOmanifestation_ofimg Papular infiltration of tongue and frenulum C3278447
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanECM11893extracellular matrix protein 1
img GENERIF, Score=1000, Pubmed Id: 17721643, UMLKSK CUI: C0023795
img GENERIF, Score=1000, Pubmed Id: 17927570, UMLKSK CUI: C0023795
img GENERIF, Score=1000, Pubmed Id: 16274456, UMLKSK CUI: C0023795
img OMIM, Score=1000, UMLKSK CUI: C0023795
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023795Lipoid Proteinosis of Urbach and Wiethe0self