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:
Respiratory insufficiency (HP:0002093)

Parent Node:
Respiratory failure requiring assisted ventilation (HP:0004887)

..Starting node
..Ventilator dependence with inability to wean (HP:0005946)

Term ID:

5946

Name:

Ventilator dependence with inability to wean

Synonym:

Definition:

Comments:

Reference:

HP:0005946

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:0005946	HP:0005946	Ventilator dependence with inability to wean	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0005946	HP:0005946	Ventilator dependence with inability to wean	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0005946	HP:0005946	Ventilator dependence with inability to wean	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103
HP:0005946	HP:0005946	Ventilator dependence with inability to wean	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0005946	HP:0005946	Ventilator dependence with inability to wean	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional

Genes (5) :ALAD IGHMBP2 TK2 TRMU TRNE

Diseases (4) :ORPHA:100924 OMIM:604320 ORPHA:254875 ORPHA:254864

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