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

Term ID:

12264

Name:

Absent central microtubular pair morphology of respiratory motile cilia

Synonym:

Definition:

Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.

Comments:

Reference:

HP:0012264

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 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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012264	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34	2
HP:0012264	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	0	NME5 CL E G H	8382	7853	OMIM:620032

Genes (2) :DNAJB13 NME5

Diseases (2) :OMIM:617091 OMIM:620032

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