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Details
Link-It Detail - Human Phenotype - Abnormality of the choroid
Debug Stats
  • ### Total Build Time: 42 ms 32.016 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 198 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 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=5 ms Completed: 5 ms rowSize= 772 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.652 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 3.938 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 23.116 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the choroid HP:0000610
Definition (1)
An abnormality of the `choroid` (FMA:58298).
Parents (2)
img Abnormality of the fundus HP:0001098
img Abnormality of the uvea HP:0000553
Children (8)
img Chorioretinal abnormality HP:0000532
img Choroidal hemangiomata HP:0007872
img Choroideremia HP:0001139
img Choroidal degeneration HP:0007945
img Choroidal dystrophy HP:0007712
img Aplasia/Hypoplasia of the choroid HP:0001122
img Choroid coloboma HP:0000611
img Choroidal sclerosis HP:0001150
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the fundus HP:0001098
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the fundus HP:0001098
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the uvea HP:0000553
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the uvea HP:0000553
Genes (80)

Species:
human : 80
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDELXQ21100887743Choroideremia, deafness, and mental retardation
img HP RolledUp, OMIM ID: 303110
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanMNDEC100188855Microtia with nasolacrimal duct imperforation and eye coloboma
img HP RolledUp, OMIM ID: 611863
HumanCYP4V2285440cytochrome P450, family 4, subfamily V, polypeptide 2
img HP RolledUp, OMIM ID: 210370
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img HP RolledUp, OMIM ID: 216550
HumanCLDN19149461claudin 19
img HP RolledUp, OMIM ID: 248190
HumanC12orf57113246chromosome 12 open reading frame 57
img HP RolledUp, OMIM ID: 218340
HumanCEP4195681centrosomal protein 41kDa
img HP RolledUp, OMIM ID: 213300
HumanFAM58A92002family with sequence similarity 58, member A
img HP RolledUp, OMIM ID: 300707
HumanTMEM6791147transmembrane protein 67
img HP RolledUp, OMIM ID: 216360
img HP RolledUp, OMIM ID: 610688
HumanTUBGCP685378tubulin, gamma complex associated protein 6
img HP RolledUp, OMIM ID: 251270
HumanTCTN279867tectonic family member 2
img HP RolledUp, OMIM ID: 213300
HumanTTC21B79809tetratricopeptide repeat domain 21B
img HP RolledUp, OMIM ID: 213300
HumanTMEM23179583transmembrane protein 231
img HP RolledUp, OMIM ID: 213300
HumanC5orf4265250chromosome 5 open reading frame 42
img HP RolledUp, OMIM ID: 213300
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 186580
HumanCC2D2A57545coiled-coil and C2 domain containing 2A
img HP RolledUp, OMIM ID: 216360
HumanSALL457167sal-like 4 (Drosophila)
img HP RolledUp, OMIM ID: 607323
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
img HP RolledUp, OMIM ID: 213300
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP RolledUp, OMIM ID: 214800
HumanBCOR54880BCL6 corepressor
img HP RolledUp, OMIM ID: 309800
HumanRNF21654476ring finger protein 216
img HP RolledUp, OMIM ID: 212840
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000610Abnormality of the choroid0self