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Details
Link-It Detail - Human Phenotype - Abnormality of renal resorption
Debug Stats
  • ### Total Build Time: 15 ms 20.952 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 452 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.076 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.100 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 14.964 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of renal resorption HP:0011038
Parents (1)
img Abnormality of renal physiology HP:0000082
Children (6)
img Renal Fanconi syndrome HP:0001994
img Impaired renal concentrating ability HP:0004727
img Urine concentration defect HP:0005568
img Increased renal tubular phosphate reabsorption HP:0005571
img Renal magnesium wasting HP:0005567
img Impaired reabsorption of chloride HP:0005579
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of renal physiology HP:0000082
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of renal physiology HP:0000082
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanCLDN19149461claudin 19
img HP RolledUp, OMIM ID: 248190
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanCEP29080184centrosomal protein 290kDa
img HP RolledUp, OMIM ID: 610188
HumanFRTS65211Fanconi renotubular syndrome
img HP RolledUp, OMIM ID: 134600
HumanFASTKD222868FAST kinase domains 2
img HP RolledUp, OMIM ID: 220110
HumanCLDN1610686claudin 16
img HP RolledUp, OMIM ID: 248250
HumanKL9365klotho
img HP RolledUp, OMIM ID: 211900
HumanFGF238074fibroblast growth factor 23
img HP RolledUp, OMIM ID: 211900
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
img HP RolledUp, OMIM ID: 263800
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanHBB3043hemoglobin, beta
img HP RolledUp, OMIM ID: 141900
HumanGALNT32591UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
img HP RolledUp, OMIM ID: 610233
img HP RolledUp, OMIM ID: 211900
HumanFAH2184fumarylacetoacetate hydrolase (fumarylacetoacetase)
img HP RolledUp, OMIM ID: 276700
HumanCTNS1497cystinosin, lysosomal cystine transporter
img HP RolledUp, OMIM ID: 219800
HumanCOX6B11340cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
img HP RolledUp, OMIM ID: 220110
HumanCLCNKB1188chloride channel, voltage-sensitive Kb
img HP RolledUp, OMIM ID: 607364
HumanFXYD2486FXYD domain containing ion transport regulator 2
img HP RolledUp, OMIM ID: 154020
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011038Abnormality of renal resorption0self