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Details
Link-It Detail - Jax Mouse Phenotype - abnormal choroid morphology
Debug Stats
  • ### Total Build Time: 60 ms 23.520 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 294 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 175 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= 589 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 2.830 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.918 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=57 ms Completed: 57 ms rowSize= 15.056 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal choroid morphology MP:0005098
Definition (1)
any structural anomaly of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
Synonyms (1)
"choroid dysplasia" EXACT
Parents (1)
img abnormal posterior uvea morphology MP:0005196
Children (6)
img choroid sclerosis MP:0006177
img choroid degeneration MP:0006176
img choroid atrophy MP:0006175
img abnormal Bruch membrane morphology MP:0005239
img abnormal choroid pigmentation MP:0005100
img abnormal choroid vasculature morphology MP:0006237
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053917img abnormal posterior uvea morphology MP:0005196
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053916img abnormal posterior uvea morphology MP:0005196
Genes (45)

Species:
human : 45
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCR2729230chemokine (C-C motif) receptor 2
Click here to display 18 evidence detail records.
HumanPRSS56646960protease, serine, 56
Click here to display 18 evidence detail records.
HumanC1QTNF5114902C1q and tumor necrosis factor related protein 5
INFERRED
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED
HumanDTNBP184062dystrobrevin binding protein 1
Click here to display 18 evidence detail records.
HumanHPS679803Hermansky-Pudlak syndrome 6
INFERRED
HumanMLPH79083melanophilin
INFERRED
HumanKXD179036KxDL motif containing 1
INFERRED
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED
HumanBLOC1S455330biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Click here to display 18 evidence detail records.
HumanHPS511234Hermansky-Pudlak syndrome 5
INFERRED
HumanGDF1110220growth differentiation factor 11
Click here to display 18 evidence detail records.
HumanHEPH9843hephaestin
Click here to display 18 evidence detail records.
HumanADAM158751ADAM metallopeptidase domain 15
INFERRED
HumanVLDLR7436very low density lipoprotein receptor
INFERRED
HumanTIMP37078TIMP metallopeptidase inhibitor 3
INFERRED
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Click here to display 18 evidence detail records.
HumanPMEL6490premelanosome protein
INFERRED
HumanCCL136357chemokine (C-C motif) ligand 13
Click here to display 18 evidence detail records.
HumanHTRA15654HtrA serine peptidase 1
Click here to display 18 evidence detail records.
HumanPLG5340plasminogen
INFERRED
HumanPLAU5328plasminogen activator, urokinase
INFERRED
HumanPLAT5327plasminogen activator, tissue
INFERRED
HumanNOS24843nitric oxide synthase 2, inducible
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005098abnormal choroid morphology0self