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Details
Link-It Detail - Human Phenotype - Abnormality of the brainstem
Debug Stats
  • ### Total Build Time: 31 ms 31.021 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 203 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 196 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=6 ms Completed: 6 ms rowSize= 820 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.735 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.133 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 23.796 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.022 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the brainstem HP:0002363
Definition (1)
An anomaly of the `brainstem` (FMA:79876).
Parents (2)
img Abnormality of the central nervous system HP:0002011
img Morphological abnormality of the central nervous system HP:0007319
Children (8)
img Atrophy/Degeneration affecting the brainstem HP:0007366
img Bulbar signs HP:0002483
img Aplasia/Hypoplasia of the brainstem HP:0007362
img Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord HP:0002405
img Malformation of brainstem structures HP:0002508
img Abnormality of the pons HP:0007361
img Brain stem compression HP:0002512
img Bulbar palsy HP:0001283
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 (84)

Species:
human : 84
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanAGRN375790agrin
img HP RolledUp, OMIM ID: 254300
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 254300
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
img HP RolledUp, OMIM ID: 225753
HumanC9orf72203228chromosome 9 open reading frame 72
img HP RolledUp, OMIM ID: 105550
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211500
img HP RolledUp, OMIM ID: 211530
HumanCEP4195681centrosomal protein 41kDa
img HP RolledUp, OMIM ID: 213300
HumanPDB494003Paget disease of bone 4
img HP RolledUp, OMIM ID: 602080
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 256000
HumanTSEN280746TSEN2 tRNA splicing endonuclease subunit
img HP RolledUp, OMIM ID: 612389
HumanPANK280025pantothenate kinase 2
img HP RolledUp, OMIM ID: 607236
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
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
img HP RolledUp, OMIM ID: 613153
img HP RolledUp, OMIM ID: 236670
HumanC5orf4265250chromosome 5 open reading frame 42
img HP RolledUp, OMIM ID: 213300
HumanSEPN157190selenoprotein N, 1
img HP RolledUp, OMIM ID: 255310
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
img HP RolledUp, OMIM ID: 213300
HumanNDUFA1255967NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
img HP RolledUp, OMIM ID: 256000
HumanFLVCR255640feline leukemia virus subgroup C cellular receptor family, member 2
img HP RolledUp, OMIM ID: 225790
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img HP RolledUp, OMIM ID: 253280
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 256000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002363Abnormality of the brainstem0self