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Details
Link-It Detail - Human Phenotype - Abnormal respiratory motile cilium morphology
Debug Stats
  • ### Total Build Time: 27 ms 20.729 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 220 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=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= 789 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.828 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 3.028 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 13.703 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.039 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal respiratory motile cilium morphology HP:0005938
Parents (2)
img Abnormal respiratory epithelium morphology HP:0012253
img Abnormality of the lung HP:0002088
Children (5)
img Abnormal axonemal organization of motile cilia HP:0012258
img Absent ciliary axoneme radial spokes HP:0012267
img Dynein arm defect of motile cilia HP:0012255
img Abnormal central microtubular pair morphology of motile cilia HP:0012260
img Absent central microtubular pair morphology of motile cilia HP:0012264
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal respiratory epithelium morphology HP:0012253
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the lung HP:0002088
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the lung HP:0002088
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanCCDC103388389coiled-coil domain containing 103
img HP TAS, OMIM ID: 614679
HumanDNAAF3352909dynein, axonemal, assembly factor 3
img HP RolledUp, OMIM ID: 606763
HumanRSPH4A345895radial spoke head 4 homolog A (Chlamydomonas)
img HP RolledUp, OMIM ID: 612649
HumanCCDC39339829coiled-coil domain containing 39
img HP RolledUp, OMIM ID: 613807
HumanRSPH9221421radial spoke head 9 homolog (Chlamydomonas)
img HP RolledUp, OMIM ID: 612650
HumanDNAAF1123872dynein, axonemal, assembly factor 1
img HP RolledUp, OMIM ID: 613193
HumanCCDC11493233coiled-coil domain containing 114
img HP RolledUp, OMIM ID: 615067
HumanDNAL183544dynein, axonemal, light chain 1
img HP RolledUp, OMIM ID: 614017
HumanCILD256162ciliary dyskinesia, primary 2
img HP RolledUp, OMIM ID: 606763
HumanDNAAF255172dynein, axonemal, assembly factor 2
img HP TAS, OMIM ID: 612518
HumanCCDC4055036coiled-coil domain containing 40
img HP RolledUp, OMIM ID: 613808
HumanHEATR254919HEAT repeat containing 2
img HP RolledUp, OMIM ID: 614874
HumanNME851314NME/NM23 family member 8
img HP TAS, OMIM ID: 610852
HumanDNAI127019dynein, axonemal, intermediate chain 1
img HP TAS, OMIM ID: 244400
HumanLRRC623639leucine rich repeat containing 6
img HP RolledUp, OMIM ID: 614935
HumanDNAH118701dynein, axonemal, heavy chain 11
img HP TAS, OMIM ID: 244400
HumanDNAH51767dynein, axonemal, heavy chain 5
img HP TAS, OMIM ID: 244400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005938Abnormal respiratory motile cilium morphology0self