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Details
Link-It Detail - Disease - Ciliary Motility Disorders
Debug Stats
  • ### Total Build Time: 23 ms 26.588 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 305 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1,009 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 557 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.014 KB
  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 9.448 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 11.586 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ciliary Motility Disorders C0008780
Definition (1)
Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Respiratory Tract Diseases C0035242
img Otorhinolaryngologic Diseases C0029896
Children (1)
img Kartagener Syndrome C0022521
Ancestral Roots
RootRoot Plus OneDepthParent
img Respiratory Tract Diseases C00352422img Respiratory Tract Diseases C0035242
img Otorhinolaryngologic Diseases C00298962img Otorhinolaryngologic Diseases C0029896
Relationships (21)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 1
diso_​to_​diso : 14
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 11
isa : 5
mapped_​to : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_ANAT28img Cilia C0008778
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_ANAT13img Cilia C0008778
DISO_to_PHYS11img Mutation C0026882
DISO_to_DISO10img Polycystic Kidney Diseases C0022680
DISO_to_CHEM9img Proteins C0033684
DISO_to_DISO9img Congenital cerebral hernia C0014065
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_PHYS7img Clearance, Mucociliary C0026687
DISO_to_DISOisaimg AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONS C0340037
DISO_to_DISOisaimg CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION C0340038
DISO_to_DISOpermuted_term_ofimg Ciliary Motility Disorders C0008780
DISO_to_DISOisaimg IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES C0340035
DISO_to_DISOmapped_toimg IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA C0340036
DISO_to_DISOisaimg Kartagener Syndrome C0022521
DISO_to_DISOmapped_toimg MECKEL SYNDROME, TYPE 2 C1864148
DISO_to_DISOmapped_toimg Meckel syndrome type 3 C1846357
DISO_to_DISOmapped_toimg Meckel-Gruber syndrome C0265215
DISO_to_DISOisaimg Primary ciliary dyskinesia due to transposition of ciliary microtubules C0340034
Genes (9)

Species:
human : 9
SpeciesGeneGeneIdGene NameEvidence
HumanDNAL183544dynein, axonemal, light chain 1
img GENERIF, Score=1000, Pubmed Id: 15845866, UMLKSK CUI: C0008780
HumanDNAI264446dynein, axonemal, intermediate chain 2
img GENERIF, Score=1000, Pubmed Id: 18950741, UMLKSK CUI: C0008780
HumanDNAH756171dynein, axonemal, heavy chain 7
img GENERIF, Score=1000, Pubmed Id: 11877439, UMLKSK CUI: C0008780
HumanTXNDC351314
img GENERIF, Score=1000, Pubmed Id: 17360648, UMLKSK CUI: C0008780
HumanDNAI127019dynein, axonemal, intermediate chain 1
img GENERIF, Score=1000, Pubmed Id: 18434704, UMLKSK CUI: C0008780
HumanDPCD25911deleted in primary ciliary dyskinesia homolog (mouse)
img GENERIF, Score=1000, Pubmed Id: 14630615, UMLKSK CUI: C0008780
img GENERIF, Score=1000, Pubmed Id: 14630615, UMLKSK CUI: C0008780
HumanDNAH118701dynein, axonemal, heavy chain 11
img GENERIF, Score=923, Pubmed Id: 12142464, UMLKSK CUI: C0008780
img GENERIF, Score=1000, Pubmed Id: 18022865, UMLKSK CUI: C0008780
HumanDNAH51767dynein, axonemal, heavy chain 5
img GENERIF, Score=1000, Pubmed Id: 16627867, UMLKSK CUI: C0008780
HumanCFTR1080cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
img GENERIF, Score=923, Pubmed Id: 17272866, UMLKSK CUI: C0008780
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008780Ciliary Motility Disorders0self