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

Term ID:

12260

Name:

Abnormal central microtubular pair morphology of respiratory motile cilia

Synonym:

Definition:

A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.

Comments:

Reference:

HP:0012260

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

Absent respiratory ciliary axoneme radial spokes (HP:0012267)

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

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012260	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0012260	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20

Genes (2) :RSPH4A RSPH9

Diseases (2) :OMIM:612649 OMIM:612650

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