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Details
Link-It Detail - Jax Mouse Phenotype - anophthalmia
Debug Stats
  • ### Total Build Time: 650 ms 21.785 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 362 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 165 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=7 ms Completed: 7 ms rowSize= 578 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.565 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=632 ms Completed: 632 ms rowSize= 17.494 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
anophthalmia MP:0001293
Definition (1)
absence of the globe and ocular tissue from the orbit, with or without the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus); remnants of the globe sometimes appear in ectopic locations
Synonyms (1)
"eyeless" EXACT
Parents (1)
img abnormal eye morphology MP:0002092
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053914img abnormal eye morphology MP:0002092
Genes (56)

Species:
human : 56
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Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
Click here to display 153 evidence detail records.
HumanFREM1158326FRAS1 related extracellular matrix 1
Click here to display 153 evidence detail records.
HumanZIC585416Zic family member 5
Click here to display 153 evidence detail records.
HumanSLX484464SLX4 structure-specific endonuclease subunit
Click here to display 153 evidence detail records.
HumanTCF7L183439transcription factor 7-like 1 (T-cell specific, HMG-box)
Click here to display 153 evidence detail records.
HumanFUZ80199fuzzy planar cell polarity protein
Click here to display 153 evidence detail records.
HumanPGAP180055post-GPI attachment to proteins 1
Click here to display 153 evidence detail records.
HumanWDR1957728WD repeat domain 19
Click here to display 153 evidence detail records.
HumanTWSG157045twisted gastrulation homolog 1 (Drosophila)
Click here to display 153 evidence detail records.
HumanCTNNBIP156998catenin, beta interacting protein 1
Click here to display 153 evidence detail records.
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
Click here to display 153 evidence detail records.
HumanSULF255959sulfatase 2
Click here to display 153 evidence detail records.
HumanSLC39A455630solute carrier family 39 (zinc transporter), member 4
Click here to display 153 evidence detail records.
HumanMKS154903Meckel syndrome, type 1
Click here to display 153 evidence detail records.
HumanRAB2351715RAB23, member RAS oncogene family
Click here to display 153 evidence detail records.
HumanRAX30062retina and anterior neural fold homeobox
Click here to display 153 evidence detail records.
HumanIFT17226160intraflagellar transport 172 homolog (Chlamydomonas)
Click here to display 153 evidence detail records.
HumanFKBP823770FK506 binding protein 8, 38kDa
Click here to display 153 evidence detail records.
HumanRPGRIP1L23322RPGRIP1-like
Click here to display 153 evidence detail records.
HumanJMJD623210jumonji domain containing 6
Click here to display 153 evidence detail records.
HumanDKK122943dickkopf WNT signaling pathway inhibitor 1
Click here to display 153 evidence detail records.
HumanEHD110938EH-domain containing 1
Click here to display 153 evidence detail records.
HumanFRS210818fibroblast growth factor receptor substrate 2
Click here to display 153 evidence detail records.
HumanLHX29355LIM homeobox 2
Click here to display 153 evidence detail records.
HumanNOG9241noggin
Click here to display 153 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0001293anophthalmia0self