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Details
Link-It Detail - Human Phenotype - Abnormality of the cranial nerves
Debug Stats
  • ### Total Build Time: 28 ms 29.720 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 208 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 266 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
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  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 462 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 3.724 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.177 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 22.733 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.027 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the cranial nerves HP:0001291
Definition (1)
Abnormality affecting one or more of the `cranial nerves` (FMA:5865), which emerge directly from the brain stem.
Parents (1)
img Abnormality of the central nervous system HP:0002011
Children (11)
img Cranial nerve compression HP:0001293
img Cranial nerve paralysis HP:0006824
img Cranial nerve motor loss HP:0007097
img Abnormality of the seventh cranial nerve HP:0010827
img Abnormality of the vestibulocochlear nerve HP:0009591
img Abnormality of the eleventh cranial nerve HP:0010825
img Abnormality of the fifth cranial nerve HP:0010824
img Abnormality of the sixth cranial nerve HP:0011348
img Gustatory lacrimation HP:0100274
img Oculomotor nerve palsy HP:0012246
img Abnormality of the twelfth cranial nerve HP:0010826
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the central nervous system HP:0002011
Genes (142)

Species:
human : 142
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanCFTDX100188765Myopathy, congenital, with fiber-type disproportion, X-linked
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
HumanWG474168Wegener granulomatosis
img HP RolledUp, OMIM ID: 608710
HumanAGRN375790agrin
img HP RolledUp, OMIM ID: 254300
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 254300
HumanCMAL246230Capillary malformations, hereditary
img HP TAS, OMIM ID: 163000
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanAMER1139285APC membrane recruitment protein 1
img HP RolledUp, OMIM ID: 300373
HumanNLRP3114548NLR family, pyrin domain containing 3
img HP RolledUp, OMIM ID: 191900
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanPDB494003Paget disease of bone 4
img HP RolledUp, OMIM ID: 602080
HumanMGME192667mitochondrial genome maintenance exonuclease 1
img HP RolledUp, OMIM ID: 615084
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
HumanMEGF1084466multiple EGF-like-domains 10
img HP RolledUp, OMIM ID: 614399
HumanITPKC80271inositol-trisphosphate 3-kinase C
img HP RolledUp, OMIM ID: 611775
HumanPANK280025pantothenate kinase 2
img HP TAS, OMIM ID: 234200
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img HP IEA, OMIM ID: 601596
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 606612
HumanCMDR64588Craniometaphyseal dysplasia, autosomal recessive
img HP RolledUp, OMIM ID: 218400
HumanMTMR1464419myotubularin related protein 14
img HP RolledUp, OMIM ID: 160150
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001291Abnormality of the cranial nerves0self