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

..Starting node
..Reduced respiratory ciliary beating frequency (HP:0033158)

Term ID:

33158

Name:

Reduced respiratory ciliary beating frequency

Synonym:

Dminished respiratory ciliary beat frequency

Definition:

An abnormal reduction in the number of beats per unit time of the respiratory cilia.

Comments:

Reference:

HP:0033158

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033158	HP:0033158	Reduced respiratory ciliary beating frequency	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	18
HP:0033158	HP:0033158	Reduced respiratory ciliary beating frequency	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34	2

Genes (2) :DNAH9 DNAJB13

Diseases (2) :OMIM:618300 OMIM:617091

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