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Details
Link-It Detail - Human Phenotype - Abnormality of pigmentation
Debug Stats
  • ### Total Build Time: 30 ms 25.020 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 202 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
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 450 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.397 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.165 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 20.490 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of pigmentation HP:0200045
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the integument HP:0001574
Children (4)
img Abnormality of skin pigmentation HP:0001000
img Abnormal iris pigmentation HP:0008034
img Albinism HP:0001022
img Abnormality of hair pigmentation HP:0009887
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the integument HP:0001574
Genes (364)

Species:
human : 364
Page Size
Current 25
  Page 1 of 15
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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
img HP RolledUp, OMIM ID: 300845
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 RolledUp, OMIM ID: 609425
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP RolledUp, OMIM ID: 300719
HumanAA1100034700Alopecia areata 1
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanEDS8791254Ehlers-Danlos syndrome, type VIII
img HP RolledUp, OMIM ID: 130080
HumanKTWS791122Klippel-Trenaunay-Weber syndrome
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
HumanLOC619539619539lentiginosis, inherited patterned
HumanWTRS619509Wittwer syndrome
img HP RolledUp, OMIM ID: 300421
HumanGCCD3619477glucocorticoid deficiency 3
HumanPSORS10503613psoriasis susceptibility 10
HumanCVMRF494028cubitus valgus with mental retardation and unusual facies
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img HP RolledUp, OMIM ID: 203300
img HP RolledUp, OMIM ID: 614077
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0200045Abnormality of pigmentation0self