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Details
Link-It Detail - Human Phenotype - Abnormality of dermal melanosomes
Debug Stats
  • ### Total Build Time: 15 ms 12.695 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 208 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=3 ms Completed: 3 ms rowSize= 453 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.107 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.036 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 6.734 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of dermal melanosomes HP:0011125
Parents (1)
img Abnormality of skin pigmentation HP:0001000
Children (3)
img Giant melanosomes in melanocytes HP:0005592
img Accumulation of melanosomes in melanocytes HP:0001008
img Aberrant melanosome maturation HP:0007384
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of skin pigmentation HP:0001000
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of skin pigmentation HP:0001000
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of skin pigmentation HP:0001000
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img HP RolledUp, OMIM ID: 608233
HumanTYR7299tyrosinase
img HP RolledUp, OMIM ID: 103470
HumanRAB27A5873RAB27A, member RAS oncogene family
img HP RolledUp, OMIM ID: 607624
HumanOASD4941ocular albinism and sensorineural deafness
img HP RolledUp, OMIM ID: 300650
HumanGPR1434935G protein-coupled receptor 143
img HP RolledUp, OMIM ID: 300500
HumanMYO5A4644myosin VA (heavy chain 12, myoxin)
img HP RolledUp, OMIM ID: 214450
HumanMITF4286microphthalmia-associated transcription factor
img HP RolledUp, OMIM ID: 103470
HumanLYST1130lysosomal trafficking regulator
img HP RolledUp, OMIM ID: 214500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011125Abnormality of dermal melanosomes0self