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Details
Link-It Detail - Human Phenotype - Abnormality of the fundus
Debug Stats
  • ### Total Build Time: 61 ms 29.624 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 200 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 468 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 3.016 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.131 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=59 ms Completed: 59 ms rowSize= 22.661 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.020 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the fundus HP:0001098
Parents (1)
img Abnormality of the posterior segment of the eye HP:0004329
Children (9)
img Hypopigmented fundi HP:0001487
img Bone corpuscle fundus pigmentation HP:0007823
img Abnormality of the retina HP:0000479
img Fundus atrophy HP:0001099
img Abnormality of the optic nerve HP:0000587
img Aplasia/Hypoplasia affecting the fundus HP:0008057
img Night blindness and abnormal fundus HP:0007865
img Abnormality of the choroid HP:0000610
img Ocular albinism HP:0001107
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the posterior segment of the eye HP:0004329
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the posterior segment of the eye HP:0004329
Genes (709)

Species:
human : 709
Page Size
Current 25
  Page 1 of 29
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCORD17101409267cone rod dystrophy 17 (autosomal dominant)
img HP RolledUp, OMIM ID: 615163
HumanUSH1K101180907Usher syndrome 1K (autosomal recessive)
img HP RolledUp, OMIM ID: 614990
HumanDELXQ21100887743Choroideremia, deafness, and mental retardation
img HP RolledUp, OMIM ID: 303110
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanRP63100862681Retinitis pigmentosa 63
img HP RolledUp, OMIM ID: 614494
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanCACD3100653393Choroidal dystrophy, central areolar 3
img HP RolledUp, OMIM ID: 613144
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanMYMY4100653379Moyamoya disease 4
HumanBED100653365Bornholm eye disease
img HP RolledUp, OMIM ID: 300843
HumanLCR-OPSIN100534624
img HP RolledUp, OMIM ID: 303700
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanMYP17100359401myopia 17
img HP RolledUp, OMIM ID: 608367
HumanSPG45100322879spastic paraplegia 45 (autosomal recessive)
img HP RolledUp, OMIM ID: 613162
HumanDELXP11.3100271686
img HP RolledUp, OMIM ID: 300578
HumanDEL9P100240748Chromosome 9p deletion syndrome
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanMNDEC100188855Microtia with nasolacrimal duct imperforation and eye coloboma
img HP RolledUp, OMIM ID: 611863
HumanLOAS100188775Leber optic atrophy, susceptibility to
img HP RolledUp, OMIM ID: 308905
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP RolledUp, OMIM ID: 300719
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001098Abnormality of the fundus0self