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 outer dynein arms (HP:0012256)
Term ID: 12256
Name: Absent outer dynein arms
Synonym:
Definition: Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Comments:
Reference: HP:0012256
Genes and Diseases: Child Nodes: ........Absent inner and outer dynein arms (HP:0012259) ........Absent/shortened outer dynein arms (HP:0200109) Sister Nodes: ..Absent inner dynein arms (HP:0012257) ..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:0012256 HP:0012256 Absent outer dynein arms 0 CFAP298 CL E G H 56683 1301 OMIM:615500 Ciliary dyskinesia, primary, 26 HP:0012256 HP:0012256 Absent outer dynein arms 0 CFAP300 CL E G H 85016 28188 OMIM:618063 Ciliary dyskinesia, primary, 38 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAAF1 CL E G H 123872 30539 OMIM:613193 Ciliary dyskinesia, primary, 13 . 116 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 63 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAAF5 CL E G H 54919 26013 OMIM:614874 Ciliary dyskinesia, primary, 18 . 62 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAH9 CL E G H 1770 2953 OMIM:618300 Ciliary dyskinesia, primary, 40 18 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAI1 CL E G H 27019 2954 OMIM:244400 Ciliary dyskinesia, primary, 1 73 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAI2 CL E G H 64446 18744 OMIM:612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9 104 HP:0012256 HP:0012256 Absent outer dynein arms 0 DNAL1 CL E G H 83544 23247 OMIM:614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16 167 HP:0012256 HP:0012256 Absent outer dynein arms 0 ODAD1 CL E G H 93233 26560 OMIM:615067 Ciliary dyskinesia, primary, 20 . HP:0012256 HP:0012256 Absent outer dynein arms 0 ODAD3 CL E G H 115948 28303 OMIM:616037 Ciliary dyskinesia, primary, 30 . HP:0012256 HP:0012256 Absent outer dynein arms 0 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012256 HP:0012256 Absent outer dynein arms 0 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 20 HP:0012256 HP:0012259 Absent inner and outer dynein arms 1 CFAP300 CL E G H 85016 28188 OMIM:618063 Ciliary dyskinesia, primary, 38 . HP:0012256 HP:0012259 Absent inner and outer dynein arms 1 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 . HP:0012256 HP:0012259 Absent inner and outer dynein arms 1 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 63 HP:0012256 HP:0012259 Absent inner and outer dynein arms 1 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012256 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.
