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Details
Link-It Detail - Disease - Frontometaphyseal dysplasia
Debug Stats
  • ### Total Build Time: 56 ms 16.814 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 352 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=44 ms Completed: 44 ms rowSize= 12.495 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 2.744 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Frontometaphyseal dysplasia C0265293
Relationships (52)

Relation Types:
diso_​to_​diso : 52


Relationships:
expanded_​form_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 50
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg "Coat hanger" deformity of lower ribs C1844504
DISO_to_DISOmanifestation_ofimg 'Winged' scapulae C0240953
DISO_to_DISOmanifestation_ofimg ARACHNODACTYLY C0003706
DISO_to_DISOmanifestation_ofimg Antegonial notching of mandible C1844509
DISO_to_DISOmanifestation_ofimg Anteriorly placed odontoid process C1844512
DISO_to_DISOmanifestation_ofimg BREVICOLLIS C0022738
DISO_to_DISOmanifestation_ofimg Caused by mutation in the filamin A gene (FLNA, 300017.0011) C1844524
DISO_to_DISOmanifestation_ofimg Coarse facies C0239539
DISO_to_DISOmanifestation_ofimg Congenital stridor C0858233
DISO_to_DISOmanifestation_ofimg Contractures of elbows C1833142
DISO_to_DISOmanifestation_ofimg Contractures of the knees and ankles C1844514
DISO_to_DISOmanifestation_ofimg Cor pulmonale C0034072
DISO_to_DISOmanifestation_ofimg Coxa valga C0239137
DISO_to_DISOmanifestation_ofimg DENTITION DELAY C0239174
DISO_to_DISOmanifestation_ofimg Deciduous teeth retained C0266050
DISO_to_DISOmanifestation_ofimg Dilatation of ureter C0521620
DISO_to_DISOmanifestation_ofimg Downslanted palpebral fissures C1865016
DISO_to_DISOmanifestation_ofimg Erlenmeyer-flask appearance of femur and tibia C1844515
DISO_to_DISOmanifestation_ofimg Finger and wrist contractures C1844517
DISO_to_DISOmanifestation_ofimg Flared pelvis C1844513
DISO_to_DISOexpanded_form_ofimg Frontometaphyseal dysplasia C0265293
DISO_to_DISOmanifestation_ofimg Genu valga ICD10CM:M21.06 C3276330
DISO_to_DISOmanifestation_ofimg HYDRONEPHROSIS C0020295
DISO_to_DISOmanifestation_ofimg High palate C1398297
DISO_to_DISOmanifestation_ofimg Hirsutism of buttocks and thighs C1844522
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFLNA2316filamin A, alpha
img GENERIF, Score=1000, Pubmed Id: 16835913, UMLKSK CUI: C0265293
img GENERIF, Score=1000, Pubmed Id: 14988809, UMLKSK CUI: C0265293
img OMIM, Score=1000, UMLKSK CUI: C0265293
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265293Frontometaphyseal dysplasia0self