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Details
Link-It Detail - Jax Mouse Phenotype - abnormal optic disc morphology
Debug Stats
  • ### Total Build Time: 45 ms 32.517 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 388 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 287 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 178 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=0 Completed: 0 ms rowSize= 1.486 KB
  • CONCEPT_CHILDREN gt=17 ms Completed: 17 ms rowSize= 1.457 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.931 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 20.497 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Jax Mouse Phenotype (1)
abnormal optic disc morphology MP:0008259
Definition (1)
any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
Synonyms (1)
"optic disc dysplasia" EXACT
Parents (3)
img abnormal ocular fundus morphology MP:0002864
img abnormal retinal development MP:0009772
img abnormal optic nerve morphology MP:0001330
Children (3)
img absent optic disc MP:0011389
img abnormal optic disc size MP:0006216
img optic disc coloboma MP:0010716
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053916img abnormal ocular fundus morphology MP:0002864
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053918img abnormal retinal development MP:0009772
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053916img abnormal retinal development MP:0009772
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053916img abnormal optic nerve morphology MP:0001330
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036317img abnormal optic nerve morphology MP:0001330
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanMTERFD2130916MTERF domain containing 2
INFERRED
HumanFKRP79147fukutin related protein
img Jax MP, Pubmed Id: 19255444, MOUSE PHENOTYPE ID: MGI:98214
img Jax MP, Pubmed Id: 20675713, MOUSE PHENOTYPE ID: MGI:2447586
img Jax MP, Pubmed Id: 15797020, MOUSE PHENOTYPE ID: MGI:102524
img Jax MP
img Jax MP, Pubmed Id: 8943028, MOUSE PHENOTYPE ID: MGI:97486
img Jax MP
img Jax MP
HumanTFB1M51106transcription factor B1, mitochondrial
INFERRED
HumanNR2F17025nuclear receptor subfamily 2, group F, member 1
INFERRED
HumanRXRA6256retinoid X receptor, alpha
img Jax MP
img Jax MP, Pubmed Id: 19255444, MOUSE PHENOTYPE ID: MGI:98214
img Jax MP
img Jax MP, Pubmed Id: 20675713, MOUSE PHENOTYPE ID: MGI:2447586
img Jax MP, Pubmed Id: 8943028, MOUSE PHENOTYPE ID: MGI:97486
img Jax MP
img Jax MP, Pubmed Id: 15797020, MOUSE PHENOTYPE ID: MGI:102524
HumanRARB5915retinoic acid receptor, beta
INFERRED
HumanPOU4F25458POU class 4 homeobox 2
img Jax MP, Pubmed Id: 20675713, MOUSE PHENOTYPE ID: MGI:2447586
img Jax MP
img Jax MP
img Jax MP, Pubmed Id: 8943028, MOUSE PHENOTYPE ID: MGI:97486
img Jax MP, Pubmed Id: 19255444, MOUSE PHENOTYPE ID: MGI:98214
img Jax MP
img Jax MP, Pubmed Id: 15797020, MOUSE PHENOTYPE ID: MGI:102524
HumanPAX25076paired box 2
img Jax MP, Pubmed Id: 20675713, MOUSE PHENOTYPE ID: MGI:2447586
img Jax MP, Pubmed Id: 19255444, MOUSE PHENOTYPE ID: MGI:98214
img Jax MP, Pubmed Id: 15797020, MOUSE PHENOTYPE ID: MGI:102524
img Jax MP
img Jax MP
img Jax MP
img Jax MP, Pubmed Id: 8943028, MOUSE PHENOTYPE ID: MGI:97486
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0008259abnormal optic disc morphology0self