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Details
Link-It Detail - Human Phenotype - Abnormality of hair pigmentation
Debug Stats
  • ### Total Build Time: 572 ms 33.398 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 207 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=6 ms Completed: 6 ms rowSize= 774 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 2.945 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 3.938 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=552 ms Completed: 552 ms rowSize= 24.386 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of hair pigmentation HP:0009887
Parents (2)
img Abnormality of the hair HP:0001595
img Abnormality of pigmentation HP:0200045
Children (9)
img Premature graying of hair HP:0002216
img Silver-gray hair HP:0002218
img White forelock HP:0002211
img White eyebrow HP:0002226
img White eyelashes HP:0002227
img Hypopigmentation of hair HP:0005599
img Melanin pigment aggregation in hair shafts HP:0002220
img Poliosis HP:0002290
img Red hair HP:0002297
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the hair HP:0001595
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the hair HP:0001595
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the hair HP:0001595
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of pigmentation HP:0200045
Genes (133)

Species:
human : 133
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
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 TAS, OMIM ID: 610443
HumanWTRS619509Wittwer syndrome
img HP RolledUp, OMIM ID: 300421
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img HP RolledUp, OMIM ID: 614077
img HP RolledUp, OMIM ID: 203300
HumanSPG23353293spastic paraplegia 23 (autosomal recessive)
img HP RolledUp, OMIM ID: 270750
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 TAS, OMIM ID: 610443
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 269000
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: 203300
img HP RolledUp, OMIM ID: 614073
HumanZNF46984627zinc finger protein 469
img HP RolledUp, OMIM ID: 229200
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: 614075
img HP RolledUp, OMIM ID: 203300
HumanMLPH79083melanophilin
img HP RolledUp, OMIM ID: 609227
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009887Abnormality of hair pigmentation0self