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Details
Link-It Detail - Human Phenotype - Abnormality of skin pigmentation
Debug Stats
  • ### Total Build Time: 62 ms 37.255 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 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=4 ms Completed: 4 ms rowSize= 1.082 KB
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 8.488 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 3.952 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=30 ms Completed: 30 ms rowSize= 22.359 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skin pigmentation HP:0001000
Parents (3)
img Abnormality of skin morphology HP:0011121
img Abnormality of the skin HP:0000951
img Abnormality of pigmentation HP:0200045
Children (26)
img Vitiligo HP:0001045
img Hyperpigmentation of the skin HP:0000953
img Reticulated skin pigmentation HP:0007427
img Pigmented nevi HP:0000995
img Perioral hyperpigmentation HP:0010802
img Multiple lentigines HP:0001003
img Numerous pigmented freckles HP:0007587
img Mild localized pigmentation abnormalities HP:0007622
img Albinism HP:0001022
img Freckling HP:0001480
img Abnormality of dermal melanosomes HP:0011125
img Pigmentation anomalies of sun-exposed skin HP:0007623
img Profuse pigmented skin lesions HP:0005587
img Piebaldism HP:0007544
img Blotching pigmentation of the skin HP:0007610
img Generalized reticulate brown pigmentation HP:0007599
img macules HP:0200031
img Symmetric great toe depigmentation HP:0200015
img Accumulation of melanosomes in melanocytes HP:0001008
img Hypopigmentation of the skin HP:0001010
img Fine, reticulate skin pigmentation HP:0007617
img Aberrant melanosome maturation HP:0007384
img Cafe-au-lait spot HP:0000957
img Mottled pigmentation HP:0001070
img Periorbital hyperpigmentation HP:0001106
img Depigmentation/hyperpigmentation of skin HP:0007483
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of skin morphology HP:0011121
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of pigmentation HP:0200045
Genes (342)

Species:
human : 342
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanSCA34100750330spinocerebellar ataxia 34
img HP RolledUp, OMIM ID: 133190
HumanMYMY4100653379Moyamoya disease 4
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL9P100240748Chromosome 9p deletion syndrome
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanMICRODEL15Q13.3100188869
img HP RolledUp, OMIM ID: 612001
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
img HP TAS, OMIM ID: 609425
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP IEA, OMIM ID: 300719
HumanAA1100034700Alopecia areata 1
img HP RolledUp, OMIM ID: 104000
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanEDS8791254Ehlers-Danlos syndrome, type VIII
img HP TAS, OMIM ID: 130080
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
img HP RolledUp, OMIM ID: 149000
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanHPP1780897hyperpigmentation, progressive, 1
img HP RolledUp, OMIM ID: 145250
HumanLOC619539619539lentiginosis, inherited patterned
img HP RolledUp, OMIM ID: 151001
HumanWTRS619509Wittwer syndrome
HumanGCCD3619477glucocorticoid deficiency 3
img HP RolledUp, OMIM ID: 609197
HumanPSORS10503613psoriasis susceptibility 10
img HP RolledUp, OMIM ID: 177900
HumanCVMRF494028cubitus valgus with mental retardation and unusual facies
img HP RolledUp, OMIM ID: 300471
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img HP RolledUp, OMIM ID: 614077
img HP RolledUp, OMIM ID: 203300
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001000Abnormality of skin pigmentation0self