Human Phenotype Ontology 
Grandparent Node:
expandAbsent/shortened dynein arms (HP:0200106)help
Parent Node:
expandAbsent inner dynein arms (HP:0012257)help
Parent Node:
expandAbsent outer dynein arms (HP:0012256)help
..Starting node
..expandAbsent inner and outer dynein arms (HP:0012259)help
Term ID: 12259
Name: Absent inner and outer dynein arms
Synonym:
Definition: Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Comments:
Reference: HP:0012259
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent/shortened outer dynein arms (HP:0200109) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012259HP:0012259Absent inner and outer dynein arms0CFAP300 CL E G H8501628188OMIM:618063Ciliary dyskinesia, primary, 38.
HP:0012259HP:0012259Absent inner and outer dynein arms0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0012259HP:0012259Absent inner and outer dynein arms0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 263
HP:0012259HP:0012259Absent inner and outer dynein arms0TTC12 CL E G H5497023700OMIM:618801CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012259HP:0012259Absent inner and outer dynein arms0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 22.20


Genes (5) :CFAP300 DNAAF11 DNAAF3 TTC12 ZMYND10

Diseases (5) :OMIM:618063 OMIM:614935 OMIM:606763 OMIM:618801 OMIM:615444
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.