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Details
Link-It Detail - Human Phenotype - Abnormality of the columella
Debug Stats
  • ### Total Build Time: 23 ms 18.690 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 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=0 Completed: 0 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= 787 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.377 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.101 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 12.884 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the columella HP:0009929
Definition (1)
An abnormality of the `columella` (FMA:59725).
Parents (2)
img Abnormality of the external nose HP:0010938
img Abnormality of the nasal septum HP:0000419
Children (4)
img Broad columella HP:0010761
img Short columella HP:0002000
img Low hanging columella HP:0009765
img Low insertion of columella HP:0010763
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:00001188img Abnormality of the nasal septum HP:0000419
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanRSTSS100188814Chromosome 16p13.3 deletion syndrome
img HP RolledUp, OMIM ID: 610543
HumanSRCAP10847Snf2-related CREBBP activator protein
img HP RolledUp, OMIM ID: 136140
HumanPQBP110084polyglutamine binding protein 1
img HP RolledUp, OMIM ID: 309500
HumanZEB29839zinc finger E-box binding homeobox 2
img HP RolledUp, OMIM ID: 235730
HumanHDAC49759histone deacetylase 4
img HP RolledUp, OMIM ID: 600430
HumanNOG9241noggin
img HP RolledUp, OMIM ID: 184460
HumanNAA108260N(alpha)-acetyltransferase 10, NatA catalytic subunit
img HP RolledUp, OMIM ID: 300855
HumanKDM6A7403lysine (K)-specific demethylase 6A
img HP RolledUp, OMIM ID: 300867
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
img HP RolledUp, OMIM ID: 212066
HumanJBS3719Jacobsen syndrome
img HP RolledUp, OMIM ID: 147791
HumanEP3002033E1A binding protein p300
img HP RolledUp, OMIM ID: 180849
HumanCREBBP1387CREB binding protein
img HP RolledUp, OMIM ID: 180849
HumanBDMR626brachydactyly-mental retardation syndrome
img HP RolledUp, OMIM ID: 600430
HumanALX3257ALX homeobox 3
img HP RolledUp, OMIM ID: 136760
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0009929Abnormality of the columella0self