Human Phenotype Ontology 
Grandparent Node:
expandAbnormal respiratory epithelium morphology (HP:0012253)help
Parent Node:
expandAbnormal respiratory motile cilium morphology (HP:0005938)help
..Starting node
..expandAbnormal axonemal organization of respiratory motile cilia (HP:0012258)help
Term ID: 12258
Name: Abnormal axonemal organization of respiratory motile cilia
Synonym: Abnormal axonemal organisation of respiratory motile cilia
Definition: Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.
Comments:
Reference: HP:0012258
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260) help
..expandAbsent central microtubular pair morphology of respiratory motile cilia (HP:0012264) help
..expandAbsent respiratory ciliary axoneme radial spokes (HP:0012267) help
..expandDynein arm defect of respiratory motile cilia (HP:0012255) 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:0012258HP:0012258Abnormal axonemal organization of respiratory motile cilia0ARMC2 CL E G H8407123045OMIM:618433SPERMATOGENIC FAILURE 38; SPGF38
HP:0012258HP:0012258Abnormal axonemal organization of respiratory motile cilia0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0012258HP:0012258Abnormal axonemal organization of respiratory motile cilia0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182


Genes (3) :ARMC2 CCDC39 CCDC40

Diseases (3) :OMIM:618433 OMIM:613807 OMIM:613808
 

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