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Details
Link-It Detail - Human Phenotype - Abnormality of the helix
Debug Stats
  • ### Total Build Time: 32 ms 31.508 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= 349 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 5.809 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 21.480 KB
  • CONCEPT_XREFS gt=0 Completed: 0 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:0011039
Definition (1)
An abnormality of the `helix` (FMA:60992). The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
Parents (1)
img Abnormality of the pinna HP:0000377
Children (18)
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 Crimped helix HP:0011262
img Abnormality of the antihelix HP:0009738
img Overfolded helix HP:0000396
img Abnormally folded helix HP:0008544
img Stahl ear HP:0100015
img Long hairs growing from helix of pinna HP:0008528
img Hypoplastic helices HP:0008589
img Pointed helix HP:0100810
img Discontinuous ascending root of helix HP:0011264
img Posterior helix pit HP:0008523
img Underfolded helix HP:0008577
img Darwin tubercle of helix HP:0011261
img Abnormality of the crus of the helix HP:0009895
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the pinna HP:0000377
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the pinna HP:0000377
Genes (79)

Species:
human : 79
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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 TAS, 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
HumanFREM2341640FRAS1 related extracellular matrix protein 2
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP RolledUp, OMIM ID: 181270
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP TAS, OMIM ID: 130650
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
HumanFRAS180144Fraser syndrome 1
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img HP RolledUp, OMIM ID: 610253
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP TAS, OMIM ID: 130650
HumanFAM111A63901family with sequence similarity 111, member A
img HP TAS, OMIM ID: 602361
HumanPEX2655670peroxisomal biogenesis factor 26
img HP IEA, OMIM ID: 214100
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanTCTN326123tectonic family member 3
img HP TAS, OMIM ID: 258860
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
HumanGRIP123426glutamate receptor interacting protein 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011039Abnormality of the helix0self