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Details
Link-It Detail - Disease - CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
Debug Stats
  • ### Total Build Time: 81 ms 12.160 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 412 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=54 ms Completed: 54 ms rowSize= 8.942 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 1.555 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.190 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS C0432194
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 Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOalias_ofimg CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS C0432194
DISO_to_DISOmanifestation_ofimg Caused by mutation in the solute carrier family 35, member D1 gene (SLC25D1, 610804.0001) C2678358
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Dumbbell-shaped short long bones C1849291
DISO_to_DISOmanifestation_ofimg Dwarfism, micromelic C1849286
DISO_to_DISOmanifestation_ofimg Flat acetabular roof C1837485
DISO_to_DISOmanifestation_ofimg Flat midface C1858085
DISO_to_DISOmanifestation_ofimg Hook-shaped clavicle C1849285
DISO_to_DISOmanifestation_ofimg Hyperostosis of skull C0020496
DISO_to_DISOmanifestation_ofimg Hypoplastic scapulae C1843669
DISO_to_DISOmanifestation_ofimg Metaphyseal irregularities C1865199
DISO_to_DISOmanifestation_ofimg Narrow chest C1843667
DISO_to_DISOmanifestation_ofimg Polyhydramnios C0020224
DISO_to_DISOmanifestation_ofimg Precociously ossified carpal bones C1849292
DISO_to_DISOmanifestation_ofimg Precociously ossified tarsal bones C1849293
DISO_to_DISOmanifestation_ofimg Round vertebral bodies C1849288
DISO_to_DISOmanifestation_ofimg Sacral stenosis C1849289
DISO_to_DISOmanifestation_ofimg Short, splayed ribs C1849284
DISO_to_DISOmanifestation_ofimg Snail-shaped ilia C1849290
DISO_to_DISOmanifestation_ofimg Stillborn or lethal in the neonatal period C1849287
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC35D123169solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
img GENERIF, Score=1000, Pubmed Id: 17952091, UMLKSK CUI: C0432194
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0432194CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS0self