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Details
Link-It Detail - Human Phenotype - Abnormality of the antihelix
Debug Stats
  • ### Total Build Time: 28 ms 29.361 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 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=6 ms Completed: 6 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= 1.074 KB
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.019 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 5.791 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 17.917 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the antihelix HP:0009738
Definition (1)
An abnormality of the `antihelix` (FMA:60995).
Parents (3)
img Abnormality of the helix HP:0000380
img Abnormality of the pinna HP:0000377
img Abnormality of the helix HP:0011039
Children (9)
img Absent antihelix HP:0011234
img Abnormality of inferior crus of antihelix HP:0011243
img Angulated antihelix HP:0011236
img Prominent antihelix HP:0000395
img Additional crus of antihelix HP:0011235
img Abnormality of superior crus of antihelix HP:0011245
img Hypoplasia of the antihelix HP:0009739
img Antihelical shelf HP:0011233
img Abnormality of stem of antihelix HP:0011244
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the helix HP:0000380
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the helix HP:0000380
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
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the helix HP:0011039
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the helix HP:0011039
Genes (22)

Species:
human : 22
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP TAS, OMIM ID: 608156
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP TAS, OMIM ID: 158170
HumanDEL18P100240747Chromosome 18p deletion syndrome
img HP TAS, OMIM ID: 146390
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP TAS, OMIM ID: 181270
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img HP TAS, OMIM ID: 212720
HumanKAT6B23522K(lysine) acetyltransferase 6B
img HP TAS, OMIM ID: 603736
HumanAP4E123431adaptor-related protein complex 4, epsilon 1 subunit
img HP RolledUp, OMIM ID: 613744
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
img HP TAS, OMIM ID: 216340
HumanEFTUD29343elongation factor Tu GTP binding domain containing 2
img HP TAS, OMIM ID: 610536
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img HP TAS, OMIM ID: 101400
HumanCDKL56792cyclin-dependent kinase-like 5
img HP TAS, OMIM ID: 312750
HumanSLC16A26567solute carrier family 16, member 2 (thyroid hormone transporter)
img HP RolledUp, OMIM ID: 300523
HumanSALL16299sal-like 1 (Drosophila)
img HP RolledUp, OMIM ID: 107480
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img HP TAS, OMIM ID: 312750
HumanFLNA2316filamin A, alpha
img HP RolledUp, OMIM ID: 300321
HumanFGS22270FG syndrome 2
img HP RolledUp, OMIM ID: 300321
HumanFGFR22263fibroblast growth factor receptor 2
img HP TAS, OMIM ID: 149730
img HP TAS, OMIM ID: 101400
HumanFGFR32261fibroblast growth factor receptor 3
img HP TAS, OMIM ID: 149730
HumanFGF102255fibroblast growth factor 10
img HP TAS, OMIM ID: 149730
HumanFBN22201fibrillin 2
img HP TAS, OMIM ID: 121050
HumanEYA12138eyes absent homolog 1 (Drosophila)
img HP TAS, OMIM ID: 166780
HumanEVC2121Ellis van Creveld syndrome
img HP TAS, OMIM ID: 193530
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009738Abnormality of the antihelix0self