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Details
Link-It Detail - Human Phenotype - Abnormality of the fovea
Debug Stats
  • ### Total Build Time: 374 ms 16.816 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 351 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=3 ms Completed: 3 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=352 ms Completed: 352 ms rowSize= 2.021 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.089 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 10.571 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the fovea HP:0000493
Definition (1)
An abnormality of the `fovea centralis` (FMA:58658), the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.
Parents (1)
img Abnormality of the macula HP:0001103
Children (6)
img Foveal hyperplasia HP:0007923
img Foveoschisis HP:0012152
img Foveal dystrophy HP:0007798
img Foveal hyperpigmentation HP:0008001
img Progressive foveal dystrophy HP:0007919
img Aplasia/Hypoplasia of the fovea HP:0008060
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the macula HP:0001103
img All HP:0000001img Phenotypic abnormality HP:000011810img Abnormality of the macula HP:0001103
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 613703
HumanMFRP83552membrane frizzled-related protein
img HP TAS, OMIM ID: 611040
HumanGDF39573growth differentiation factor 3
img HP RolledUp, OMIM ID: 613703
HumanWT17490Wilms tumor 1
img HP RolledUp, OMIM ID: 106210
HumanBEST17439bestrophin 1
img HP RolledUp, OMIM ID: 153870
HumanTYR7299tyrosinase
img HP RolledUp, OMIM ID: 203100
img HP RolledUp, OMIM ID: 103470
HumanPAX65080paired box 6
img HP RolledUp, OMIM ID: 106210
img HP RolledUp, OMIM ID: 136520
HumanOCA24948oculocutaneous albinism II
img HP RolledUp, OMIM ID: 203200
HumanMITF4286microphthalmia-associated transcription factor
img HP RolledUp, OMIM ID: 103470
HumanMCDR14167macular dystrophy, retinal, 1 (North Carolina type)
img HP RolledUp, OMIM ID: 136550
HumanMC1R4157melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
img HP RolledUp, OMIM ID: 203200
HumanCACNA1F778calcium channel, voltage-dependent, L type, alpha 1F subunit
img HP RolledUp, OMIM ID: 300600
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000493Abnormality of the fovea0self