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Details
Link-It Detail - Jax Mouse Phenotype - abnormal photoreceptor inner segment morphology
Debug Stats
  • ### Total Build Time: 55 ms 25.649 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 422 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 385 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 195 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= 596 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.922 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.290 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 15.548 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.185 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal photoreceptor inner segment morphology MP:0003730
Definition (1)
any structural anomaly of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
Synonyms (1)
"abnormal photoreceptor inner segments" EXACT
Parents (1)
img abnormal retinal photoreceptor morphology MP:0001004
Children (6)
img abnormal retinal cone cell inner segment morphology MP:0008448
img absent photoreceptor inner segment MP:0008583
img disorganized photoreceptor inner segment MP:0008581
img short photoreceptor inner segment MP:0008582
img abnormal retinal rod cell inner segment morphology MP:0008455
img photoreceptor inner segment degeneration MP:0008580
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036317img abnormal retinal photoreceptor morphology MP:0001004
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036318img abnormal retinal photoreceptor morphology MP:0001004
img mammalian phenotype MP:0000001img vision/eye phenotype MP:000539111img abnormal retinal photoreceptor morphology MP:0001004
Genes (40)

Species:
human : 40
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCDC66285331coiled-coil domain containing 66
Click here to display 23 evidence detail records.
HumanLCA5167691Leber congenital amaurosis 5
INFERRED
HumanTTC8123016tetratricopeptide repeat domain 8
Click here to display 23 evidence detail records.
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
Click here to display 23 evidence detail records.
HumanRDH13112724retinol dehydrogenase 13 (all-trans/9-cis)
Click here to display 23 evidence detail records.
HumanARL684100ADP-ribosylation factor-like 6
INFERRED
HumanPANK280025pantothenate kinase 2
INFERRED
HumanMPP564398membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
INFERRED
HumanSTRA664220stimulated by retinoic acid 6
INFERRED
HumanRPGRIP157096retinitis pigmentosa GTPase regulator interacting protein 1
INFERRED
HumanAIPL123746aryl hydrocarbon receptor interacting protein-like 1
Click here to display 23 evidence detail records.
HumanCRB123418crumbs homolog 1 (Drosophila)
Click here to display 23 evidence detail records.
HumanAGTPBP123287ATP/GTP binding protein 1
Click here to display 23 evidence detail records.
HumanASIC39311acid-sensing (proton-gated) ion channel 3
INFERRED
HumanUSH2A7399Usher syndrome 2A (autosomal recessive, mild)
INFERRED
HumanUCHL37347ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Click here to display 23 evidence detail records.
HumanTULP17287tubby like protein 1
INFERRED
HumanTUB7275tubby bipartite transcription factor
Click here to display 23 evidence detail records.
HumanRS16247retinoschisin 1
Click here to display 23 evidence detail records.
HumanRPE656121retinal pigment epithelium-specific protein 65kDa
INFERRED
HumanRPGR6103retinitis pigmentosa GTPase regulator
Click here to display 23 evidence detail records.
HumanRP16101retinitis pigmentosa 1 (autosomal dominant)
INFERRED
HumanRHO6010rhodopsin
INFERRED
HumanPRPH25961peripherin 2 (retinal degeneration, slow)
Click here to display 23 evidence detail records.
HumanPFDN55204prefoldin subunit 5
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0003730abnormal photoreceptor inner segment morphology0self