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Details
Link-It Detail - Disease - CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE
Debug Stats
  • ### Total Build Time: 107 ms 12.281 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 404 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=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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=78 ms Completed: 78 ms rowSize= 9.075 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.555 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.187 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE C1300226
Relationships (22)

Relation Types:
diso_​to_​diso : 22


Relationships:
alias_​of : 1
manifestation_​of : 21
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg 11 ribs C1879276
DISO_to_DISOmanifestation_ofimg Allelic to Pelger-Huet anomaly (169400) C2673819
DISO_to_DISOmanifestation_ofimg Anterior rib punctate calcifications C1859120
DISO_to_DISOalias_ofimg CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE C1300226
DISO_to_DISOmanifestation_ofimg Calcification of trachea C0264324
DISO_to_DISOmanifestation_ofimg Caused by mutation in the lamin B receptor (LBR, 600024.0003) C1859129
DISO_to_DISOmanifestation_ofimg Congenital micrognathia C0025990
DISO_to_DISOmanifestation_ofimg Deficient skull ossification C1859123
DISO_to_DISOmanifestation_ofimg Elevated cholesta-8,14-dien-3-beta-ol C1859128
DISO_to_DISOmanifestation_ofimg Epiphyseal punctate calcifications C1859126
DISO_to_DISOmanifestation_ofimg Extramedullary erythropoiesis C1292120
DISO_to_DISOmanifestation_ofimg Heterozygotes show hypolobulated nuclei (Pelger-Huet anomaly, 169400) C1859131
DISO_to_DISOmanifestation_ofimg Hyperostosis of skull C0020496
DISO_to_DISOmanifestation_ofimg Iliac apophysis, pubis and ischial punctate calcifications C1859125
DISO_to_DISOmanifestation_ofimg Laryngeal calcification C1859158
DISO_to_DISOmanifestation_ofimg Moth-eaten (fragmented) long bones C1859127
DISO_to_DISOmanifestation_ofimg Narrow thorax C0426790
DISO_to_DISOmanifestation_ofimg Platyspondyly with multiple extra ossification centers C1859124
DISO_to_DISOmanifestation_ofimg Polydactyly C0152427
DISO_to_DISOmanifestation_ofimg Rhizomelia C1857191
DISO_to_DISOmanifestation_ofimg Small maxilla C1848975
DISO_to_DISOmanifestation_ofimg Sternal punctate calcifications C1859121
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLBR3930lamin B receptor
img GENERIF, Score=913, Pubmed Id: 12618959, UMLKSK CUI: C1300226
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1300226CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE0self