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Details
Link-It Detail - Human Phenotype - Abnormality of earlobe
Debug Stats
  • ### Total Build Time: 38 ms 29.891 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 197 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 206 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=4 ms Completed: 4 ms rowSize= 445 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 3.276 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.086 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.539 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.017 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of earlobe HP:0000363
Definition (1)
An abnormality of the `lobule of pinna` (FMA:60984).
Parents (1)
img Abnormality of the pinna HP:0000377
Children (10)
img Forward facing earlobe HP:0011263
img Cleft earlobe HP:0011265
img Attached earlobe HP:0009907
img Anterior creases of earlobe HP:0009908
img Large earlobe HP:0009748
img Prominent ear lobes HP:0004456
img Absent earlobe HP:0000387
img Aplasia/Hypoplasia of the earlobes HP:0009906
img Congenital earlobe sinuses HP:0004461
img Uplifted earlobe HP:0009909
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 (53)

Species:
human : 53
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanDUP22Q11.2100240738
img HP RolledUp, OMIM ID: 608363
HumanZLS353173Zimmerman-Laband Syndrome
img HP RolledUp, OMIM ID: 135500
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP RolledUp, OMIM ID: 181270
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanMRSS114890Mental retardation, X-linked, with short stature
img HP RolledUp, OMIM ID: 300360
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanPHF684295PHD finger protein 6
img HP RolledUp, OMIM ID: 301900
HumanNSD164324nuclear receptor binding SET domain protein 1
img HP RolledUp, OMIM ID: 130650
HumanSMOC164093SPARC related modular calcium binding 1
img HP RolledUp, OMIM ID: 206920
HumanHDAC855869histone deacetylase 8
img HP RolledUp, OMIM ID: 309585
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanB4GALT711285xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
img HP RolledUp, OMIM ID: 130070
HumanIL1RAPL111141interleukin 1 receptor accessory protein-like 1
img HP RolledUp, OMIM ID: 300143
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanSEC23A10484Sec23 homolog A (S. cerevisiae)
img HP RolledUp, OMIM ID: 607812
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
img HP RolledUp, OMIM ID: 216340
HumanZEB29839zinc finger E-box binding homeobox 2
img HP RolledUp, OMIM ID: 235730
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img HP RolledUp, OMIM ID: 214800
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP RolledUp, OMIM ID: 194050
HumanEFTUD29343elongation factor Tu GTP binding domain containing 2
img HP RolledUp, OMIM ID: 610536
HumanHBHR8129alpha-thalassemia/mental retardation syndrome, type 1
img HP RolledUp, OMIM ID: 141750
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000363Abnormality of earlobe0self