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Details
Link-It Detail - Disease - Acrocephalosyndactylia
Debug Stats
  • ### Total Build Time: 215 ms 29.784 KB
  • CONCEPT_NAME gt=14 ms Completed: 13 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 242 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=2 ms Completed: 2 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 980 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=32 ms Completed: 32 ms rowSize= 7.947 KB
  • CONCEPT_RELATIONSHIPS gt=136 ms Completed: 136 ms rowSize= 13.825 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 5.106 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Acrocephalosyndactylia C1510455
Definition (1)
A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Craniosynostoses C0010278
img Syndactyly C0039075
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Craniosynostoses C0010278
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Craniosynostoses C0010278
img Musculoskeletal Diseases C0026857img Bone Diseases C00059407img Craniosynostoses C0010278
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Syndactyly C0039075
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Syndactyly C0039075
img Musculoskeletal Diseases C0026857img Bone Diseases C00059407img Syndactyly C0039075
Relationships (34)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 6
diso_​to_​diso : 21
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
associated_​with : 2
classifies : 2
gene_​associated_​with_​disease : 2
isa : 2
location_​of : 2
mapped_​to : 11
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN70img genetic aspects C0017399
DISO_to_PHEN65img genetic aspects C0017399
DISO_to_DISO45img Complication Aspects C1171258
DISO_to_CHEM31img Fibroblast Growth Factor Receptor 2 C0209706
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_CHEM22img Fibroblast Growth Factor Receptors C0060369
DISO_to_CHEM21img Receptor Protein-Tyrosine Kinases C0206364
DISO_to_DISO20img Craniofacial Dysostosis C0010273
DISO_to_CHEM19img Nuclear Proteins C0028589
DISO_to_PHYS17img Mutation C0026882
DISO_to_CHEM14img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM14img Transcription Factors C0040648
DISO_to_ANATlocation_ofimg Digit structure C0582802
DISO_to_ANATlocation_ofimg Head C0018670
DISO_to_DISOmapped_toimg ACPS III C1275079
DISO_to_DISOmapped_toimg ACROCEPHALOPOLYSYNDACTYLY TYPE IV C0265303
DISO_to_DISOmapped_toimg ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE C1867146
DISO_to_DISOisaimg Acrocephalopolysyndactyly C0687154
DISO_to_DISOmapped_toimg Acrocephalopolysyndactyly type 2 C1275078
DISO_to_DISOpermuted_term_ofimg Acrocephalosyndactylia C1510455
DISO_to_DISOmapped_toimg Acrocephalosyndactyly, type 5 C2931888
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg Apert syndrome C0001193
DISO_to_DISOmapped_toimg Apert syndrome with polydactyly of hands and feet C2931088
DISO_to_DISOmapped_toimg Cardiocranial syndrome C1857495
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR22263fibroblast growth factor receptor 2
img GENERIF, Score=1000, Pubmed Id: 15282208, UMLKSK CUI: C1510455
img GENERIF, Score=1000, Pubmed Id: 16440883, UMLKSK CUI: C1510455
img GENERIF, Score=1000, Pubmed Id: 17251833, UMLKSK CUI: C1510455
img GENERIF, Score=694, Pubmed Id: 17622301, UMLKSK CUI: C1510455
img GENERIF, Score=1000, Pubmed Id: 17189145, UMLKSK CUI: C1510455
img GENERIF, Score=734, Pubmed Id: 16373332, UMLKSK CUI: C1510455
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1510455Acrocephalosyndactylia0self