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Details
Link-It Detail - Human Phenotype - Abnormal ciliary motility
Debug Stats
  • ### Total Build Time: 42 ms 17.478 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 200 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 406 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 466 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 758 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 1.181 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 13.346 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.020 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal ciliary motility HP:0012262
Definition (1)
Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
Parents (1)
img Abnormal respiratory motile cilium physiology HP:0012261
Children (2)
img Ciliary dyskinesia HP:0012265
img Immotile cilia HP:0012263
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal respiratory motile cilium physiology HP:0012261
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanCCDC103388389coiled-coil domain containing 103
img HP RolledUp, OMIM ID: 614679
HumanDNAAF3352909dynein, axonemal, assembly factor 3
img HP RolledUp, OMIM ID: 606763
HumanRSPH4A345895radial spoke head 4 homolog A (Chlamydomonas)
img HP TAS, OMIM ID: 612649
HumanCCDC39339829coiled-coil domain containing 39
img HP TAS, OMIM ID: 613807
HumanRSPH9221421radial spoke head 9 homolog (Chlamydomonas)
img HP RolledUp, OMIM ID: 612650
HumanCCDC11493233coiled-coil domain containing 114
img HP RolledUp, OMIM ID: 615067
HumanDNAL183544dynein, axonemal, light chain 1
img HP TAS, OMIM ID: 614017
HumanCILD256162ciliary dyskinesia, primary 2
img HP RolledUp, OMIM ID: 606763
HumanHEATR254919HEAT repeat containing 2
img HP TAS, OMIM ID: 614874
HumanHYDIN54768HYDIN, axonemal central pair apparatus protein
img HP RolledUp, OMIM ID: 608647
HumanNME851314NME/NM23 family member 8
img HP TAS, OMIM ID: 610852
HumanDNAI127019dynein, axonemal, intermediate chain 1
img HP RolledUp, OMIM ID: 244400
HumanLRRC623639leucine rich repeat containing 6
img HP RolledUp, OMIM ID: 614935
HumanDNAH118701dynein, axonemal, heavy chain 11
img HP RolledUp, OMIM ID: 244400
img HP IEA, OMIM ID: 611884
HumanRP66104retinitis pigmentosa 6 (X-linked recessive)
img HP RolledUp, OMIM ID: 312612
HumanDNAH51767dynein, axonemal, heavy chain 5
img HP RolledUp, OMIM ID: 244400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0012262Abnormal ciliary motility0self