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Details
Link-It Detail - Human Phenotype - Abnormality of the helix
Debug Stats
  • ### Total Build Time: 33 ms 30.639 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 196 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=3 ms Completed: 3 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.892 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 22.514 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the helix HP:0000380
Definition (1)
An abnormality of the `helix` (FMA:60992).
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the pinna HP:0000377
Children (12)
img Long hairs growing from helix of pinna HP:0008528
img Posterior helix pit HP:0008523
img Underfolded helix HP:0008577
img Thickened helices HP:0000391
img Cleft helix HP:0009902
img Crumpled ear HP:0009901
img Prominent ear helix HP:0009904
img Thin ear helix HP:0009905
img Abnormality of the antihelix HP:0009738
img Overfolded helix HP:0000396
img Abnormally folded helix HP:0008544
img Stahl ear HP:0100015
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the pinna HP:0000377
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the pinna HP:0000377
Genes (63)

Species:
human : 63
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanARCODS100381211Ariculocondylar syndrome
img HP RolledUp, OMIM ID: 602483
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanDEL18P100240747Chromosome 18p deletion syndrome
img HP RolledUp, OMIM ID: 146390
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP RolledUp, OMIM ID: 181270
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanDIS3L2129563DIS3 mitotic control homolog (S. cerevisiae)-like 2
img HP RolledUp, OMIM ID: 267000
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img HP RolledUp, OMIM ID: 610253
HumanPEX2655670peroxisomal biogenesis factor 26
img HP IEA, OMIM ID: 214100
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP RolledUp, OMIM ID: 212720
HumanPIGN23556phosphatidylinositol glycan anchor biosynthesis, class N
img HP RolledUp, OMIM ID: 614080
HumanKAT6B23522K(lysine) acetyltransferase 6B
img HP RolledUp, OMIM ID: 603736
HumanAP4E123431adaptor-related protein complex 4, epsilon 1 subunit
img HP RolledUp, OMIM ID: 613744
HumanMED129968mediator complex subunit 12
img HP RolledUp, OMIM ID: 309520
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
img HP RolledUp, OMIM ID: 216340
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img HP RolledUp, OMIM ID: 214800
HumanADAMTSL29719ADAMTS-like 2
img HP RolledUp, OMIM ID: 231050
HumanPIGL9487phosphatidylinositol glycan anchor biosynthesis, class L
img HP RolledUp, OMIM ID: 280000
HumanEFTUD29343elongation factor Tu GTP binding domain containing 2
img HP RolledUp, OMIM ID: 610536
HumanPEX38504peroxisomal biogenesis factor 3
img HP IEA, OMIM ID: 214100
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000380Abnormality of the helix0self