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Details
Link-It Detail - Disease - Cystinosis
Debug Stats
  • ### Total Build Time: 116 ms 25.685 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 363 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 493 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=12 ms Completed: 12 ms rowSize= 562 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.851 KB
  • CONCEPT_RELATIONSHIPS gt=77 ms Completed: 77 ms rowSize= 13.522 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 6.563 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Cystinosis C0010690
6-B5 CYSTINOSIS
Definition (1)
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Lysosomal Storage Diseases C0085078
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Lysosomal Storage Diseases C0085078
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Lysosomal Storage Diseases C0085078
Relationships (26)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 10
diso_​to_​diso : 11
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 9
associated_​with : 4
is_​associated_​anatomic_​site_​of : 2
isa : 3
mapped_​to : 3
may_​treat : 4
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_PHEN33img genetic aspects C0017399
DISO_to_CHEM23img 2 Aminoethanethiol C0010648
DISO_to_PHEN23img genetic aspects C0017399
DISO_to_CHEM18img Amino Acid Transport Systems, Neutral C0969702
DISO_to_CHEM16img 2 Aminoethanethiol C0010648
DISO_to_CHEM15img Glycoproteins C0017968
DISO_to_CHEM14img Membrane Associated Proteins C0025252
DISO_to_ANATis_associated_anatomic_site_ofimg Kidney C0022646
DISO_to_ANATis_associated_anatomic_site_ofimg Urinary system C1508753
DISO_to_CHEMmay_treatimg 2 Aminoethanethiol C0010648
DISO_to_CHEMmay_treatimg Bitartrate, Cysteamine C0282119
DISO_to_CHEMmay_treatimg CYSTEAMINE BITARTRATE 150 MG ORAL CAPSULE C0976052
DISO_to_CHEMmay_treatimg CYSTEAMINE BITARTRATE 50 MG ORAL CAPSULE C0976053
DISO_to_CHEMassociated_withimg CYSTINE C0010682
DISO_to_DISOpermuted_term_ofimg 6-B5 CYSTINOSIS C0010690
DISO_to_DISOmapped_toimg Abderhalden Kaufmann Lignac syndrome C2930877
DISO_to_DISOisaimg Benign adult cystinosis C0342711
DISO_to_DISOmapped_toimg Cystinosis, ocular nonnephropathic C1857413
DISO_to_DISOassociated_withimg Deposition of foreign crystalline material C0333590
DISO_to_DISOassociated_withimg Disease C0012634
DISO_to_DISOisaimg Fanconi Syndrome C0015624
DISO_to_DISOisaimg Juvenile nephropathic cystinosis (disorder) C0268626
DISO_to_DISOmapped_toimg Nephropathic cystinosis C2931187
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
img OMIM, Score=1000, UMLKSK CUI: C0010690
HumanCTNS1497cystinosin, lysosomal cystine transporter
img OMIM, Score=666, UMLKSK CUI: C0010690
img OMIM, Score=1000, UMLKSK CUI: C0010690
img GENERIF, Score=1000, Pubmed Id: 11505338, UMLKSK CUI: C0010690
img GENERIF, Score=827, Pubmed Id: 15365816, UMLKSK CUI: C0010690
img GENERIF, Score=694, Pubmed Id: 17643777, UMLKSK CUI: C0010690
img GENERIF, Score=694, Pubmed Id: 12401840, UMLKSK CUI: C0010690
img OMIM, Score=1000, UMLKSK CUI: C0010690
img OMIM, Score=1000, UMLKSK CUI: C0010690
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0010690Cystinosis0self