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Details
Link-It Detail - Jax Mouse Phenotype - abnormal orientation of cochlear hair cell stereociliary bundles
Debug Stats
  • ### Total Build Time: 54 ms 27.828 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 456 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 315 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= 614 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.090 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 8.492 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 15.548 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.201 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal orientation of cochlear hair cell stereociliary bundles MP:0004522
Definition (1)
misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium
Parents (1)
img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
Children (2)
img abnormal orientation of inner hair cell stereociliary bundles MP:0004492
img abnormal orientation of outer hair cell stereociliary bundles MP:0004491
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363110img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363111img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053778img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:00053779img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537710img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
img mammalian phenotype MP:0000001img hearing/vestibular/ear phenotype MP:000537711img abnormal cochlear hair cell stereociliary bundle morphology MP:0004521
Genes (33)

Species:
human : 33
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPTPRQ374462protein tyrosine phosphatase, receptor type, Q
INFERRED
HumanLRTOMT220074leucine rich transmembrane and O-methyltransferase domain containing
Click here to display 27 evidence detail records.
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
Click here to display 27 evidence detail records.
HumanMOB1B92597MOB kinase activator 1B
INFERRED
HumanGPR9884059G protein-coupled receptor 98
INFERRED
HumanVANGL181839VANGL planar cell polarity protein 1
Click here to display 27 evidence detail records.
HumanFAT479633FAT atypical cadherin 4
Click here to display 27 evidence detail records.
HumanSMURF264750SMAD specific E3 ubiquitin protein ligase 2
Click here to display 27 evidence detail records.
HumanCDH2364072cadherin-related 23
Click here to display 27 evidence detail records.
HumanVANGL257216VANGL planar cell polarity protein 2
Click here to display 27 evidence detail records.
HumanMKS154903Meckel syndrome, type 1
INFERRED
HumanDLL128514delta-like 1 (Drosophila)
Click here to display 27 evidence detail records.
HumanSCRIB23513scribbled planar cell polarity protein
Click here to display 27 evidence detail records.
HumanSEC24B10427SEC24 family, member B (S. cerevisiae)
INFERRED
HumanUSH1C10083Usher syndrome 1C (autosomal recessive, severe)
Click here to display 27 evidence detail records.
HumanCELSR19620cadherin, EGF LAG seven-pass G-type receptor 1
INFERRED
HumanDCHS18642dachsous 1 (Drosophila)
Click here to display 27 evidence detail records.
HumanFZD68323frizzled family receptor 6
INFERRED
HumanFZD18321frizzled family receptor 1
INFERRED
HumanMKKS8195McKusick-Kaufman syndrome
INFERRED
HumanCLRN17401clarin 1
INFERRED
HumanNR2F17025nuclear receptor subfamily 2, group F, member 1
INFERRED
HumanPTK75754protein tyrosine kinase 7
INFERRED
HumanMYO7A4647myosin VIIA
Click here to display 27 evidence detail records.
HumanJAG23714jagged 2
Click here to display 27 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0004522abnormal orientation of cochlear hair cell stereociliary bundles0self