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Details
Link-It Detail - Disease - Borjeson-Forssman-Lehmann syndrome
Debug Stats
  • ### Total Build Time: 349 ms 16.866 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 366 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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=331 ms Completed: 331 ms rowSize= 12.300 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.971 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Borjeson-Forssman-Lehmann syndrome C0265339
Relationships (39)

Relation Types:
diso_​to_​diso : 39


Relationships:
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 37
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abnormal EEG (poor alpha rhythms) C1844921
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOalias_ofimg Borjeson-Forssman-Lehmann syndrome C0265339
DISO_to_DISOmanifestation_ofimg Caused by mutations in the PHD finger protein 6 gene (PHF6, 300414.0001) C1844930
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Deep set eyes C1860310
DISO_to_DISOmanifestation_ofimg Delayed Puberty C0034012
DISO_to_DISOmanifestation_ofimg Gynecomastia, postpubertal C1844924
DISO_to_DISOmanifestation_ofimg Hypoplastic distal and middle phalanges C1844927
DISO_to_DISOmanifestation_ofimg Hypoplastic prostate C1844923
DISO_to_DISOmanifestation_ofimg Kyphosis C0022821
DISO_to_DISOmanifestation_ofimg Large auricle C0554972
DISO_to_DISOmanifestation_ofimg MICROCEPHALY C0025958
DISO_to_DISOmanifestation_ofimg Majority of female carriers have skewed X-inactivation (inactivation of chromosome containing the PHF6 (300414) mutation) C1844931
DISO_to_DISOmanifestation_ofimg Microcephaly C0025958
DISO_to_DISOmanifestation_ofimg Mild scoliosis C1839253
DISO_to_DISOmanifestation_ofimg Moderate obesity C0694533
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Narrow cervical spinal canal C1844925
DISO_to_DISOmanifestation_ofimg Nystagmus C0028738
DISO_to_DISOmanifestation_ofimg Nystagmus, Pathologic C0028738
DISO_to_DISOmanifestation_ofimg Observation of narrowing of palpebral fissure C0542354
DISO_to_DISOmanifestation_ofimg Prominent supraorbital ridges C1842060
DISO_to_DISOmanifestation_ofimg Puberty, Delayed C0034012
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPHF684295PHD finger protein 6
img GENERIF, Score=1000, Pubmed Id: 15241480, UMLKSK CUI: C0265339
img GENERIF, Score=937, Pubmed Id: 15466013, UMLKSK CUI: C0265339
img GENERIF, Score=1000, Pubmed Id: 15994862, UMLKSK CUI: C0265339
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265339Borjeson-Forssman-Lehmann syndrome0self