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Details
Link-It Detail - Human Phenotype - Abnormal iris pigmentation
Debug Stats
  • ### Total Build Time: 27 ms 29.469 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 202 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= 774 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.314 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 3.014 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 21.826 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal iris pigmentation HP:0008034
Definition (1)
Abnormal pigmentation of the `iris` (FMA:58235).
Parents (2)
img Abnormality of the iris HP:0000525
img Abnormality of pigmentation HP:0200045
Children (7)
img Brushfield spots HP:0001088
img Asymmetry of iris pigmentation HP:0200064
img Iris hypopigmentation HP:0007730
img Heterochromia iridis HP:0001100
img Blue irides HP:0000635
img Ocular albinism HP:0001107
img Lester's sign HP:0009781
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the iris HP:0000525
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the iris HP:0000525
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of pigmentation HP:0200045
Genes (162)

Species:
human : 162
Page Size
Current 25
  Page 1 of 7
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanMYMY4100653379Moyamoya disease 4
HumanDEL9P100240748Chromosome 9p deletion syndrome
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanWTRS619509Wittwer syndrome
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img HP RolledUp, OMIM ID: 614077
img HP RolledUp, OMIM ID: 203300
HumanDUH387570Dyschromatosis universalis hereditaria
HumanSPG23353293spastic paraplegia 23 (autosomal recessive)
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
img HP RolledUp, OMIM ID: 234500
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
HumanPWAR1145624Prader Willi/Angelman region RNA 1
img HP RolledUp, OMIM ID: 176270
HumanUROC1131669urocanate hydratase 1
img HP RolledUp, OMIM ID: 276880
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP RolledUp, OMIM ID: 227260
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanHPS489781Hermansky-Pudlak syndrome 4
img HP RolledUp, OMIM ID: 614073
img HP RolledUp, OMIM ID: 203300
HumanHPS384343Hermansky-Pudlak syndrome 3
img HP RolledUp, OMIM ID: 203300
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanDTNBP184062dystrobrevin binding protein 1
img HP RolledUp, OMIM ID: 203300
img HP RolledUp, OMIM ID: 614076
HumanHPS679803Hermansky-Pudlak syndrome 6
img HP RolledUp, OMIM ID: 203300
img HP RolledUp, OMIM ID: 614075
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008034Abnormal iris pigmentation0self