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:
Absent/shortened dynein arms (HP:0200106)

Parent Node:
Absent outer dynein arms (HP:0012256)

Parent Node:
Shortened outer dynein arms (HP:0200108)

..Starting node
..Absent/shortened outer dynein arms (HP:0200109)

Term ID:

200109

Name:

Absent/shortened outer dynein arms

Synonym:

Respiratory cilia have shortened or absent outer dynein arms

Definition:

Comments:

Reference:

HP:0200109

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200109	HP:0200109	Absent/shortened outer dynein arms	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50

Genes (1) :NME8

Diseases (1) :OMIM:610852

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