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Details
Link-It Detail - Human Phenotype - Abnormality of the metencephalon
Debug Stats
  • ### Total Build Time: 35 ms 22.270 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 207 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= 449 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.083 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.164 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 18.211 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the metencephalon HP:0011283
Parents (1)
img Abnormality of the hindbrain HP:0011282
Children (3)
img Abnormality of the cerebellum HP:0001317
img Poorly formed metencephalon HP:0007027
img Abnormality of the pons HP:0007361
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the hindbrain HP:0011282
Genes (657)

Species:
human : 657
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanSCAR12100820764Spinocerebellar ataxia, autosomal recessive 12
img HP RolledUp, OMIM ID: 614322
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
HumanDEL2Q23.1100820633
HumanSCA34100750330spinocerebellar ataxia 34
HumanDEL7Q11.23100653380
img HP RolledUp, OMIM ID: 613729
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
img HP RolledUp, OMIM ID: 613509
HumanOCLN100506658occludin
HumanSPAX3100379201Ataxia, spastic, 3, autosomal recessive
HumanSCA30100359393spinocerebellar ataxia 30
img HP RolledUp, OMIM ID: 613371
HumanSCA31100312950spinocerebellar ataxia 31
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL18Q100216483Chromosome 18q deletion syndrome
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
HumanEA7100188859Episodic ataxia, type 7
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
HumanCFSS100188773craniofacioskeletal syndrome
HumanSCAX5100188768Spinocerebellar ataxia, X-linked 5
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
HumanSAX2100126095spastic ataxia 2 (autosomal recessive)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011283Abnormality of the metencephalon0self