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Details
Link-It Detail - Disease - Acromicric Dysplasia
Debug Stats
  • ### Total Build Time: 243 ms 15.213 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 338 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=198 ms Completed: 198 ms rowSize= 12.094 KB
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 1.564 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acromicric Dysplasia C0265287
Relationships (28)

Relation Types:
diso_​to_​diso : 28


Relationships:
expanded_​form_​of : 1
manifestation_​of : 27
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg AGE BONE RETARDED C0541764
DISO_to_DISOexpanded_form_ofimg Acromicric Dysplasia C0265287
DISO_to_DISOmanifestation_ofimg Anteverted nostrils C1837721
DISO_to_DISOmanifestation_ofimg Bulbous nose C0240543
DISO_to_DISOmanifestation_ofimg Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055) C3276328
DISO_to_DISOmanifestation_ofimg Cone-shaped epiphyses C1865037
DISO_to_DISOmanifestation_ofimg FACE MOON SHAPED C0239479
DISO_to_DISOmanifestation_ofimg Fifth metacarpal notched on ulnar side C3276324
DISO_to_DISOmanifestation_ofimg Growth cartilage disorganized, with islands of cells and abnormal collagen arrangement C3276325
DISO_to_DISOmanifestation_ofimg Hoarseness C0019825
DISO_to_DISOmanifestation_ofimg Internal notch of femoral head C3276320
DISO_to_DISOmanifestation_ofimg Long eyelashes C1853738
DISO_to_DISOmanifestation_ofimg Long philtrum C1865014
DISO_to_DISOmanifestation_ofimg Mild facial anomalies C3276329
DISO_to_DISOmanifestation_ofimg Ovoid vertebral bodies C1836864
DISO_to_DISOmanifestation_ofimg Prominent philtrum C1846177
DISO_to_DISOmanifestation_ofimg Pseudomuscular build C3276326
DISO_to_DISOmanifestation_ofimg Second metacarpal notched proximally on radial side C3276323
DISO_to_DISOmanifestation_ofimg Short feet C0576226
DISO_to_DISOmanifestation_ofimg Short hands C1843108
DISO_to_DISOmanifestation_ofimg Short stature, severe C1843670
DISO_to_DISOmanifestation_ofimg Short, stubby metacarpals C3276321
DISO_to_DISOmanifestation_ofimg Short, stubby phalanges C3276322
DISO_to_DISOmanifestation_ofimg Shortened long tubular bones C1856470
DISO_to_DISOmanifestation_ofimg Small mouth C1837735
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanADAMTSL29719ADAMTS-like 2
img GENERIF, Score=1000, Pubmed Id: 18677313, UMLKSK CUI: C0265287
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265287Acromicric Dysplasia0self