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Details
Link-It Detail - Jax Mouse Phenotype - abnormal choroid pigmentation
Debug Stats
  • ### Total Build Time: 129 ms 19.048 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 290 bytes
  • CONCEPT_SYNONYM gt=0 Completed: 0 ms rowSize= 185 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=11 ms Completed: 11 ms rowSize= 1.020 KB
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 595 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=59 ms Completed: 59 ms rowSize= 5.573 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 9.722 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
abnormal choroid pigmentation MP:0005100
Definition (1)
anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
Synonyms (1)
"abnormal uveal pigmentation" EXACT
Parents (2)
img abnormal eye pigmentation MP:0001324
img abnormal choroid morphology MP:0005098
Children (1)
img abnormal choroid melanocyte morphology MP:0010191
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053915img abnormal eye pigmentation MP:0001324
img mammalian phenotype MP:0000001img pigmentation phenotype MP:00011865img abnormal eye pigmentation MP:0001324
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053918img abnormal choroid morphology MP:0005098
img mammalian phenotype MP:0000001img vision/eye phenotype MP:00053917img abnormal choroid morphology MP:0005098
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanHPS489781Hermansky-Pudlak syndrome 4
Click here to display 18 evidence detail records.
HumanHPS384343Hermansky-Pudlak syndrome 3
Click here to display 18 evidence detail records.
HumanDTNBP184062dystrobrevin binding protein 1
Click here to display 18 evidence detail records.
HumanHPS679803Hermansky-Pudlak syndrome 6
Click here to display 18 evidence detail records.
HumanMLPH79083melanophilin
INFERRED
HumanKXD179036KxDL motif containing 1
INFERRED
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
Click here to display 18 evidence detail records.
HumanBLOC1S455330biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
Click here to display 18 evidence detail records.
HumanHPS511234Hermansky-Pudlak syndrome 5
Click here to display 18 evidence detail records.
HumanPMEL6490premelanosome protein
INFERRED
HumanMYO5A4644myosin VA (heavy chain 12, myoxin)
INFERRED
HumanMITF4286microphthalmia-associated transcription factor
Click here to display 18 evidence detail records.
HumanHPS13257Hermansky-Pudlak syndrome 1
Click here to display 18 evidence detail records.
HumanEDNRB1910endothelin receptor type B
Click here to display 18 evidence detail records.
HumanECE11889endothelin converting enzyme 1
Click here to display 18 evidence detail records.
HumanLYST1130lysosomal trafficking regulator
Click here to display 18 evidence detail records.
HumanASIP434agouti signaling protein
INFERRED
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0005100abnormal choroid pigmentation0self