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Details
Link-It Detail - Human Phenotype - Abnormality of the choanae
Debug Stats
  • ### Total Build Time: 37 ms 26.450 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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= 444 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.062 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 22.226 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the choanae HP:0000415
Definition (1)
Abnormality of the choanae (the posterior nasal apertures).
Parents (1)
img Abnormality of the nose HP:0000366
Children (3)
img Choanal atresia or stenosis HP:0000416
img Choanal stenosis HP:0000452
img Choanal atresia HP:0000453
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the nose HP:0000366
Genes (48)

Species:
human : 48
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL9P100240748Chromosome 9p deletion syndrome
img HP RolledUp, OMIM ID: 158170
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanANTXR184168anthrax toxin receptor 1
img HP RolledUp, OMIM ID: 230740
HumanFRAS180144Fraser syndrome 1
img HP RolledUp, OMIM ID: 219000
HumanZNF33563925zinc finger protein 335
img HP RolledUp, OMIM ID: 615095
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 607323
HumanFAM20C56975family with sequence similarity 20, member C
img HP RolledUp, OMIM ID: 259775
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanMBTPS251360membrane-bound transcription factor peptidase, site 2
img HP RolledUp, OMIM ID: 308205
HumanPOLR1D51082polymerase (RNA) I polypeptide D, 16kDa
img HP RolledUp, OMIM ID: 613717
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 122860
HumanTCTN326123tectonic family member 3
img HP RolledUp, OMIM ID: 258860
HumanSETBP126040SET binding protein 1
img HP RolledUp, OMIM ID: 269150
HumanNIPBL25836Nipped-B homolog (Drosophila)
img HP RolledUp, OMIM ID: 122470
HumanGRIP123426glutamate receptor interacting protein 1
img HP RolledUp, OMIM ID: 219000
HumanSPINT210653serine peptidase inhibitor, Kunitz type, 2
img HP RolledUp, OMIM ID: 270420
HumanZMPSTE2410269zinc metallopeptidase STE24
img HP RolledUp, OMIM ID: 275210
HumanMED129968mediator complex subunit 12
img HP RolledUp, OMIM ID: 305450
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img HP RolledUp, OMIM ID: 214800
HumanRECQL49401RecQ protein-like 4
img HP RolledUp, OMIM ID: 218600
HumanEFTUD29343elongation factor Tu GTP binding domain containing 2
img HP RolledUp, OMIM ID: 610536
HumanTP638626tumor protein p63
img HP RolledUp, OMIM ID: 604292
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000415Abnormality of the choanae0self