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Details
Link-It Detail - Human Phenotype - Abnormality of the macula
Debug Stats
  • ### Total Build Time: 28 ms 33.597 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 200 bytes
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  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.942 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the macula HP:0001103
Definition (1)
An abnormality of the `macula lutea` (FMA:58637) is an oval-shaped highly pigmented yellow spot near the center of the retina.
Parents (1)
img Abnormality of the retina HP:0000479
Children (20)
img Abnormality of macular pigmentation HP:0008002
img Epiretinal membrane HP:0100014
img Macular schisis HP:0011511
img Macular scarring HP:0200056
img Abnormality of the fovea HP:0000493
img Macular degeneration HP:0000608
img Slowly progressive macular dystrophy HP:0007638
img Macular hypopigmentation HP:0007988
img Aplasia/Hypoplasia of the macula HP:0008059
img Vitelliform maculopathy HP:0007677
img Cystoid macular edema HP:0011505
img Temporal displacement of maculae HP:0007851
img Macular coloboma HP:0001116
img Choroidal neovascularization of the macula HP:0011506
img Cherry red spot of the macula HP:0010729
img Macular hole HP:0011508
img Noninflammatory macular atrophy HP:0007401
img Macular dystrophy HP:0007754
img Drusen HP:0011510
img Macular flecks HP:0011507
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the retina HP:0000479
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the retina HP:0000479
Genes (91)

Species:
human : 91
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SpeciesGeneGeneIdGene NameEvidence
HumanCACD3100653393Choroidal dystrophy, central areolar 3
img HP RolledUp, OMIM ID: 613144
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanLCR-OPSIN100534624
img HP RolledUp, OMIM ID: 303700
HumanPRCD768206progressive rod-cone degeneration
img HP RolledUp, OMIM ID: 610599
HumanLCA9619483Leber congenital amaurosis 9
img HP RolledUp, OMIM ID: 608553
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 613703
HumanRD3343035retinal degeneration 3
img HP RolledUp, OMIM ID: 610612
HumanCLDN19149461claudin 19
img HP RolledUp, OMIM ID: 248190
HumanFAM58A92002family with sequence similarity 58, member A
img HP TAS, OMIM ID: 300707
HumanRAX284839retina and anterior neural fold homeobox 2
img HP RolledUp, OMIM ID: 610381
img HP RolledUp, OMIM ID: 613757
HumanMFRP83552membrane frizzled-related protein
img HP RolledUp, OMIM ID: 611040
HumanCOL18A180781collagen, type XVIII, alpha 1
img HP RolledUp, OMIM ID: 267750
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img HP RolledUp, OMIM ID: 604360
HumanDHDDS79947dehydrodolichyl diphosphate synthase
img HP RolledUp, OMIM ID: 613861
HumanNMNAT164802nicotinamide nucleotide adenylyltransferase 1
img HP RolledUp, OMIM ID: 608553
HumanSEMA4A64218sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
img HP RolledUp, OMIM ID: 610283
HumanXYLT264132xylosyltransferase II
img HP RolledUp, OMIM ID: 264800
HumanXYLT164131xylosyltransferase I
img HP RolledUp, OMIM ID: 264800
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 186580
HumanEPG557724ectopic P-granules autophagy protein 5 homolog (C. elegans)
img HP TAS, OMIM ID: 242840
HumanRPGRIP157096retinitis pigmentosa GTPase regulator interacting protein 1
img HP RolledUp, OMIM ID: 608194
HumanCNGB354714cyclic nucleotide gated channel beta 3
img HP RolledUp, OMIM ID: 248200
HumanCORD854109cone rod dystrophy 8
img HP RolledUp, OMIM ID: 605549
HumanSLC45A251151solute carrier family 45, member 2
img HP RolledUp, OMIM ID: 606574
HumanAIPL123746aryl hydrocarbon receptor interacting protein-like 1
img HP RolledUp, OMIM ID: 604393
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001103Abnormality of the macula0self