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Details
Link-It Detail - Disease - Antley-Bixler Syndrome Phenotype
Debug Stats
  • ### Total Build Time: 11 ms 12.632 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 424 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • Reload Stats
Disease (2)
Antley-Bixler Syndrome Phenotype C2350233
Antley Bixler Syndrome Phenotype
Definition (1)
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Synostosis C0039093
img Steroid Metabolism, Inborn Errors C1257809
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059406img Synostosis C0039093
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Synostosis C0039093
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Synostosis C0039093
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Steroid Metabolism, Inborn Errors C1257809
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Steroid Metabolism, Inborn Errors C1257809
Relationships (3)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 1
diso_​to_​phen : 1


Relationships:
none : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_CHEM7img NADPH-Ferrihemoprotein Reductase C0027310
DISO_to_DISOpermuted_term_ofimg Antley Bixler Syndrome Phenotype C2350233
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C2350233Antley-Bixler Syndrome Phenotype0self