Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal respiratory epithelium morphology (HP:0012253)

Parent Node:
Abnormal respiratory motile cilium morphology (HP:0005938)

..Starting node
..Absent respiratory ciliary axoneme radial spokes (HP:0012267)

Term ID:

12267

Name:

Absent respiratory ciliary axoneme radial spokes

Synonym:

Definition:

Absence of the radial spokes of the axoneme of the respiratory cilium.

Comments:

Reference:

HP:0012267

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal axonemal organization of respiratory motile cilia (HP:0012258)

Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)

Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)

Dynein arm defect of respiratory motile cilia (HP:0012255)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012267	HP:0012267	Absent respiratory ciliary axoneme radial spokes	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	5

Genes (1) :RSPH3

Diseases (1) :OMIM:616481

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