Human Phenotype
Ontology
Grandparent Node: Dynein arm defect of respiratory motile cilia (HP:0012255) Parent Node: Absent/shortened dynein arms (HP:0200106) ..Starting node Absent inner dynein arms (HP:0012257)
Term ID: 12257
Name: Absent inner dynein arms
Synonym:
Definition: Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Comments:
Reference: HP:0012257
Genes and Diseases: Child Nodes: ........Absent inner and outer dynein arms (HP:0012259) Sister Nodes: ..Absent outer dynein arms (HP:0012256) ..Shortened inner dynein arms (HP:0200107) ..Shortened outer dynein arms (HP:0200108) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0012257 HP:0012257 Absent inner dynein arms 0 CCDC39 CL E G H 339829 25244 OMIM:613807 Ciliary dyskinesia, primary, 14 126 HP:0012257 HP:0012257 Absent inner dynein arms 0 CFAP300 CL E G H 85016 28188 OMIM:618063 Ciliary dyskinesia, primary, 38 HP:0012257 HP:0012257 Absent inner dynein arms 0 DNAAF1 CL E G H 123872 30539 OMIM:613193 Ciliary dyskinesia, primary, 13 . 116 HP:0012257 HP:0012257 Absent inner dynein arms 0 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 HP:0012257 HP:0012257 Absent inner dynein arms 0 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 63 HP:0012257 HP:0012257 Absent inner dynein arms 0 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012257 HP:0012257 Absent inner dynein arms 0 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 20 HP:0012257 HP:0012259 Absent inner and outer dynein arms 1 CFAP300 CL E G H 85016 28188 OMIM:618063 Ciliary dyskinesia, primary, 38 . HP:0012257 HP:0012259 Absent inner and outer dynein arms 1 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 . HP:0012257 HP:0012259 Absent inner and outer dynein arms 1 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 63 HP:0012257 HP:0012259 Absent inner and outer dynein arms 1 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012257 HP:0012259 Absent inner and outer dynein arms 1 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 . 20
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
