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Details
Link-It Detail - Disease - Diastrophic dysplasia
Debug Stats
  • ### Total Build Time: 30 ms 16.102 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 340 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=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=25 ms Completed: 25 ms rowSize= 12.495 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.049 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Diastrophic dysplasia C0220726
Relationships (26)

Relation Types:
diso_​to_​diso : 26


Relationships:
alias_​of : 1
manifestation_​of : 24
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Adult height 100-140cm C1857259
DISO_to_DISOmanifestation_ofimg Allelic to atelosteogenesis, type II (256050), achondrogenesis, type Ib (600972), and multiple epiphyseal dysplasia, type 4 (226900) C2673737
DISO_to_DISOmanifestation_ofimg Average intellect C0423900
DISO_to_DISOmanifestation_ofimg Caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0001) C1857256
DISO_to_DISOmanifestation_ofimg Cervical kyphosis C0575170
DISO_to_DISOmanifestation_ofimg Characteristic hoarse voice C1857271
DISO_to_DISOmanifestation_ofimg Cleft Palate C0008925
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Compression of spinal cord C0037926
DISO_to_DISOmanifestation_ofimg Contracture, Hip C0019553
DISO_to_DISOrelated_toimg DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT C1857255
DISO_to_DISOalias_ofimg Diastrophic dysplasia C0220726
DISO_to_DISOmanifestation_ofimg Glabellar hemangioma C1857261
DISO_to_DISOmanifestation_ofimg Hearing Loss C1384666
DISO_to_DISOmanifestation_ofimg Hitchhiker thumb C1857269
DISO_to_DISOmanifestation_ofimg Hypertrophic auricular cartilage C1857263
DISO_to_DISOmanifestation_ofimg Hypoplastic cervical vertebrae C1857265
DISO_to_DISOmanifestation_ofimg Kyphoscoliosis deformity of spine C0575158
DISO_to_DISOmanifestation_ofimg Mean birth length 42cm, specific growth curve available C1857258
DISO_to_DISOmanifestation_ofimg Neonatal cystic lesions of the pinnae C1857262
DISO_to_DISOmanifestation_ofimg Normocephaly C1855201
DISO_to_DISOmanifestation_ofimg Ossified pinnae C1857264
DISO_to_DISOmanifestation_ofimg Short finger with ulnar deviation C1857268
DISO_to_DISOmanifestation_ofimg Short, thick tubular bone, with broad metaphyses and flattened, irregular epiphyses C1857266
DISO_to_DISOmanifestation_ofimg Short-limb dwarfism identifiable at birth C1856994
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLC26A21836solute carrier family 26 (anion exchanger), member 2
img OMIM, Score=1000, UMLKSK CUI: C0220726
img OMIM, Score=1000, UMLKSK CUI: C0220726
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220726Diastrophic dysplasia0self