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Details
Link-It Detail - Human Phenotype - Abnormality of the midbrain
Debug Stats
  • ### Total Build Time: 17 ms 18.975 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 202 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 820 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.405 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.133 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 13.272 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the midbrain HP:0002418
Parents (2)
img Abnormality of the central nervous system HP:0002011
img Morphological abnormality of the central nervous system HP:0007319
Children (4)
img Absent mesencephalon HP:0007265
img Poorly formed metencephalon HP:0007027
img Molar tooth sign on MRI HP:0002419
img Deep posterior interpeduncular fossa HP:0002420
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the central nervous system HP:0002011
img All HP:0000001img Phenotypic abnormality HP:00001186img Morphological abnormality of the central nervous system HP:0007319
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanARL13B200894ADP-ribosylation factor-like 13B
img HP RolledUp, OMIM ID: 612291
HumanCEP4195681centrosomal protein 41kDa
img HP RolledUp, OMIM ID: 213300
HumanTMEM6791147transmembrane protein 67
img HP RolledUp, OMIM ID: 610688
HumanCEP29080184centrosomal protein 290kDa
img HP RolledUp, OMIM ID: 610188
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: 614970
img HP RolledUp, OMIM ID: 213300
HumanC5orf4265250chromosome 5 open reading frame 42
img HP RolledUp, OMIM ID: 213300
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
img HP RolledUp, OMIM ID: 213300
HumanAHI154806Abelson helper integration site 1
img HP RolledUp, OMIM ID: 608629
HumanTMEM13851524transmembrane protein 138
img HP RolledUp, OMIM ID: 213300
HumanTMEM21651259transmembrane protein 216
img HP RolledUp, OMIM ID: 608091
HumanTCTN326123tectonic family member 3
img HP RolledUp, OMIM ID: 213300
HumanRPGRIP1L23322RPGRIP1-like
img HP RolledUp, OMIM ID: 611560
HumanOFD18481oral-facial-digital syndrome 1
img HP RolledUp, OMIM ID: 300804
HumanNPHP14867nephronophthisis 1 (juvenile)
img HP RolledUp, OMIM ID: 609583
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002418Abnormality of the midbrain0self