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Details
Link-It Detail - Human Phenotype - Abnormality of the eyelashes
Debug Stats
  • ### Total Build Time: 26 ms 33.962 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 203 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 200 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=0 Completed: 0 ms rowSize= 772 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 3.876 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.864 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 22.907 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the eyelashes HP:0000499
Definition (1)
An abnormality of the `eyelashes` (FMA:53669).
Parents (2)
img Abnormality of the hair HP:0001595
img Abnormality of the eyelid HP:0000492
Children (12)
img Trichiasis HP:0001128
img Absent eyelashes HP:0000561
img Short eyelashes HP:0010764
img Multiple rows of eyelashes HP:0008496
img Long eyelashes HP:0000527
img Short curly eyelashes HP:0007691
img White eyelashes HP:0002227
img Curly eyelashes HP:0007665
img Sparse/absent eyelashes HP:0200102
img Sparse eyelashes HP:0000653
img Loss of eyelashes HP:0011457
img Prominent eyelashes HP:0011231
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:00001188img Abnormality of the eyelid HP:0000492
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the eyelid HP:0000492
Genes (108)

Species:
human : 108
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanECTD7101101771Ectodermal dysplasia 7, hair/nail type
img HP RolledUp, OMIM ID: 614929
HumanECTD8101101768Ectodermal dysplasia 8, hair/tooth/nail type
img HP RolledUp, OMIM ID: 602401
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP TAS, OMIM ID: 608156
HumanDEL17Q11.2100852404
img HP TAS, OMIM ID: 613675
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
img HP TAS, OMIM ID: 613509
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP TAS, OMIM ID: 606407
HumanDEL17Q23.1Q23.2100415941
img HP TAS, OMIM ID: 613355
HumanDEL19Q13.11100306978
img HP TAS, OMIM ID: 613026
HumanDEL2P16.1-P15100240740
img HP TAS, OMIM ID: 612513
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanAA1100034700Alopecia areata 1
img HP TAS, OMIM ID: 104000
HumanCDAGS574043Craniosynostosis, anal anomalies, and porokeratosis syndrome
img HP TAS, OMIM ID: 603116
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP TAS, OMIM ID: 601675
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanLIPH200879lipase, member H
img HP RolledUp, OMIM ID: 604379
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP TAS, OMIM ID: 216550
HumanEDARADD128178EDAR-associated death domain
img HP RolledUp, OMIM ID: 129490
img HP RolledUp, OMIM ID: 224900
HumanCANT1124583calcium activated nucleotidase 1
img HP TAS, OMIM ID: 251450
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP TAS, OMIM ID: 227260
HumanTUBGCP685378tubulin, gamma complex associated protein 6
img HP TAS, OMIM ID: 251270
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP TAS, OMIM ID: 606232
HumanANTXR184168anthrax toxin receptor 1
img HP TAS, OMIM ID: 230740
HumanPVRL481607poliovirus receptor-related 4
img HP RolledUp, OMIM ID: 613573
HumanPUS180324pseudouridylate synthase 1
img HP RolledUp, OMIM ID: 600462
HumanFRAS180144Fraser syndrome 1
img HP RolledUp, OMIM ID: 219000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000499Abnormality of the eyelashes0self