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Details
Link-It Detail - Disease - Pelger-Huet Anomaly
Debug Stats
  • ### Total Build Time: 15 ms 17.095 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 414 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 997 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.838 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 8.621 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.558 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pelger-Huet Anomaly C0030779
Definition (1)
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Leukocyte Disorders C0023510
img Genetic Diseases, Inborn C0950123
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Leukocyte Disorders C0023510
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (18)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 15
diso_​to_​phen : 1


Relationships:
none : 3
manifestation_​of : 13
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_ANAT5img Neutrophils C0027950
DISO_to_CHEM5img CYTOPLASMIC NUCLEAR RECEPT C0206589
DISO_to_DISOmanifestation_ofimg Allelic to hydropic and prenatally lethal chondrodystrophy (215140) C2674660
DISO_to_DISOmanifestation_ofimg Caused by mutations in the lamin B receptor gene (LBR, 600024.0001) C1868542
DISO_to_DISOmanifestation_ofimg Coarse granulocyte chromatin C1868540
DISO_to_DISOmanifestation_ofimg Developmental delay (homozygote) C1868532
DISO_to_DISOmanifestation_ofimg Hypolobulated (bilobed or rod-like) granulocyte nuclei (heterozygote) C1868538
DISO_to_DISOmanifestation_ofimg Increased frequency in Vastebotten County in Northern Sweden and Gelenau in southeastern Germany C1868544
DISO_to_DISOmanifestation_ofimg Macrocephaly (homozygote) C1868534
DISO_to_DISOmanifestation_ofimg Ovoid granulocyte nuclei (homozygote) C1868539
DISO_to_DISOmapped_toimg Ovoid neutrophil nuclei, developmental delay, epilepsy, and skeletal abnormalities C2930838
DISO_to_DISOpermuted_term_ofimg Pelger-Huet Anomaly C0030779
DISO_to_DISOmanifestation_ofimg Polydactyly (homozygote) C1868536
DISO_to_DISOmanifestation_ofimg Prominent forehead (homozygote) C1868535
DISO_to_DISOmanifestation_ofimg Seizure disorder (homozygote) C1868533
DISO_to_DISOmanifestation_ofimg Short metacarpals (homozygote) C1868537
DISO_to_DISOmanifestation_ofimg Ventricular septal defect (homozygote) C1868541
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLBR3930lamin B receptor
img OMIM, Score=1000, UMLKSK CUI: C0030779
img GENERIF, Score=1000, Pubmed Id: 12118250, UMLKSK CUI: C0030779
img OMIM, Score=1000, UMLKSK CUI: C0030779
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0030779Pelger-Huet Anomaly0self