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Details
Link-It Detail - Disease - Hypophosphatasia
Debug Stats
  • ### Total Build Time: 80 ms 20.640 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 619 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 567 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.860 KB
  • CONCEPT_RELATIONSHIPS gt=39 ms Completed: 39 ms rowSize= 6.382 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 8.548 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypophosphatasia C0020630
Definition (1)
genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metal Metabolism, Inborn Errors C0025534
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Metal Metabolism, Inborn Errors C0025534
Relationships (13)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 7
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 6
associated_​with : 2
isa : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_CHEM35img Alkaline Phosphatase C0002059
DISO_to_PHEN29img genetic aspects C0017399
DISO_to_CHEM27img Alkaline Phosphatase C0002059
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEMassociated_withimg Alkaline Phosphatase C0002059
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOisaimg Adult hypophosphatasia (disorder) C0268413
DISO_to_DISOisaimg Childhood hypophosphatasia (disorder) C0220743
DISO_to_DISOpermuted_term_ofimg Hypophosphatasia C0020630
DISO_to_DISOisaimg Infantile hypophosphatasia C0268412
DISO_to_DISOisaimg Phosphate Diabetes C0282201
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanALPL249alkaline phosphatase, liver/bone/kidney
img GENERIF, Score=1000, Pubmed Id: 17253930, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img GENERIF, Score=1000, Pubmed Id: 17229666, UMLKSK CUI: C0020630
img GENERIF, Score=1000, Pubmed Id: 11810413, UMLKSK CUI: C0020630
img GAD, Score=1000, Pubmed Id: 15660230, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img OMIM, Score=833, UMLKSK CUI: C0020630
img GENERIF, Score=1000, Pubmed Id: 11438998, UMLKSK CUI: C0020630
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020630Hypophosphatasia0self