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Details
Link-It Detail - Human Phenotype - Abnormality of the nasal tip
Debug Stats
  • ### Total Build Time: 47 ms 32.289 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=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=3 ms Completed: 3 ms rowSize= 779 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 4.871 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=14 ms Completed: 14 ms rowSize= 2.093 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 23.004 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 nasal tip HP:0000436
Definition (1)
An abnormality of the `nasal tip` (FMA:59518).
Parents (2)
img Abnormality of the external nose HP:0010938
img Abnormality of the nose HP:0000366
Children (15)
img Triangular nasal tip HP:0000451
img Prominent nasal tip HP:0005274
img Bifid nasal tip HP:0000456
img Bulbous nose HP:0000414
img Deviated nasal tip HP:0011831
img Broad nasal tip HP:0000455
img Narrow nasal tip HP:0011832
img Overhanging nasal tip HP:0011833
img Flattened nasal tip HP:0005279
img Bulbous nasal tip HP:0000443
img Dimple on nasal tip HP:0004132
img Midline defect of the nose HP:0004122
img Depressed nasal tip HP:0000437
img Hypoplastic nasal tip HP:0005278
img Depressed nasal tip due to major alar cartilage hypoplasia HP:0005277
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the external nose HP:0010938
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the nose HP:0000366
Genes (103)

Species:
human : 103
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanDEL6Q11Q14100529221Chromosome 6q11-q14 deletion syndrome
img HP RolledUp, OMIM ID: 613544
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDUP16P13.3100505393
img HP RolledUp, OMIM ID: 613458
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanDUP5P13100379202Chromosome 5p13 duplication syndrome
img HP RolledUp, OMIM ID: 613174
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanDEL2Q32Q33100190983Chromosome 2q32-q33 deletion syndrome
img HP RolledUp, OMIM ID: 612313
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanPTLS100038247Potocki-Lupski syndrome
img HP RolledUp, OMIM ID: 610883
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 208150
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP RolledUp, OMIM ID: 608980
img HP RolledUp, OMIM ID: 248450
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP RolledUp, OMIM ID: 227260
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
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP RolledUp, OMIM ID: 606232
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000436Abnormality of the nasal tip0self