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Details
Link-It Detail - Human Phenotype - Abnormality of the diencephalon
Debug Stats
  • ### Total Build Time: 24 ms 27.047 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 276 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 784 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.037 KB
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  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 20.829 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the diencephalon HP:0010662
Definition (1)
An abnormality of the `Diencephalon` (FMA:62001), which together with the cerebrum (telencephalon) makes up the forebrain.
Parents (2)
img Abnormality of the central nervous system HP:0002011
img Abnormality of the forebrain HP:0100547
Children (2)
img Abnormality of the hypothalamus HP:0002443
img Abnormality of the thalamus HP:0010663
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 Abnormality of the forebrain HP:0100547
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the forebrain HP:0100547
Genes (35)

Species:
human : 35
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 256000
HumanNDUFA1255967NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
img HP RolledUp, OMIM ID: 256000
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 256000
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
HumanLRPPRC10128leucine-rich pentatricopeptide repeat containing
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP TAS, OMIM ID: 194050
HumanOFD18481oral-facial-digital syndrome 1
HumanTRH7200thyrotropin-releasing hormone
img HP RolledUp, OMIM ID: 275120
HumanTHRB7068thyroid hormone receptor, beta
img HP RolledUp, OMIM ID: 188570
HumanSURF16834surfeit 1
img HP RolledUp, OMIM ID: 256000
HumanSOX26657SRY (sex determining region Y)-box 2
HumanSDHA6389succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
img HP RolledUp, OMIM ID: 256000
HumanSCP26342sterol carrier protein 2
img HP RolledUp, OMIM ID: 613724
HumanPTCH15727patched 1
img HP RolledUp, OMIM ID: 610828
HumanPDHA15160pyruvate dehydrogenase (lipoamide) alpha 1
img HP RolledUp, OMIM ID: 308930
HumanSIX64990SIX homeobox 6
HumanNDUFS84728NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanNDUFS44724NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanNDUFV14723NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
img HP RolledUp, OMIM ID: 256000
HumanNDUFS34722NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanNDUFA104705NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
img HP RolledUp, OMIM ID: 256000
HumanNDUFA94704NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
img HP RolledUp, OMIM ID: 256000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010662Abnormality of the diencephalon0self