Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 system physiology (HP:0002795)

Parent Node:
Abnormal respiratory motile cilium physiology (HP:0012261)

Parent Node:
Respiratory insufficiency (HP:0002093)

..Starting node
..Respiratory insufficiency due to defective ciliary clearance (HP:0200073)

Term ID:

200073

Name:

Respiratory insufficiency due to defective ciliary clearance

Synonym:

Definition:

Comments:

Reference:

HP:0200073

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intercostal muscle weakness (HP:0004878)

Neonatal respiratory distress (HP:0002643)

obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Respiratory arrest (HP:0005943)

Respiratory failure (HP:0002878)

Respiratory failure requiring assisted ventilation (HP:0004887)

Respiratory insufficiency due to muscle weakness (HP:0002747)

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:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26	.
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0200073	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20

Genes (10) :CCDC65 CFAP298 DNAAF11 DNAAF5 HYDIN ODAD1 ODAD2 ODAD3 SPAG1 ZMYND10

Diseases (10) :OMIM:615504 OMIM:615500 OMIM:614935 OMIM:614874 OMIM:608647 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:615505 OMIM:615444

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

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