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:
Respiratory insufficiency (HP:0002093)

..Starting node
..Respiratory failure requiring assisted ventilation (HP:0004887)

Term ID:

4887

Name:

Respiratory failure requiring assisted ventilation

Synonym:

Respiratory distress necessitating mechanical ventilation; Respiratory distress requiring endotracheal intubation; Respiratory distress requiring mechanical ventilation

Definition:

A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.

Comments:

Reference:

HP:0004887

Genes and Diseases:

Child Nodes:

........

Ventilator dependence with inability to wean (HP:0005946)

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 insufficiency due to defective ciliary clearance (HP:0200073)

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:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare	67
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	15
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	17
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare	240
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy	HP:0040282 - Frequent	185
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040283 - Occasional	164
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	20
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional	18
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	6
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	3
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	2
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent	102
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent	5
HP:0004887	HP:0004887	Respiratory failure requiring assisted ventilation	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0004887	HP:0005946	Ventilator dependence with inability to wean	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0004887	HP:0005946	Ventilator dependence with inability to wean	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0004887	HP:0033677	Acute respiratory distress syndrome	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0004887	HP:0005946	Ventilator dependence with inability to wean	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103
HP:0004887	HP:0005946	Ventilator dependence with inability to wean	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0004887	HP:0005946	Ventilator dependence with inability to wean	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0004887	HP:0033677	Acute respiratory distress syndrome	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2

Genes (31) :AHDC1 ALAD ARSL BCHE CSF2RA CSF2RB DPYD GAA GNPTAB HPDL IGHMBP2 MTM1 MYH11 NDUFAF8 POLR1B PRIM1 PRPS1 SLC25A46 SMPD1 TBCD TBK1 TFG TICAM1 TK2 TLR3 TRAF3 TRMU TRNE TSEN54 UNC93B1 USP18

Diseases (26) :ORPHA:412069 ORPHA:100924 ORPHA:79345 ORPHA:132 ORPHA:264675 ORPHA:1675 ORPHA:308552 ORPHA:576 OMIM:619026 OMIM:604320 OMIM:310400 ORPHA:596 OMIM:619351 OMIM:618776 OMIM:618939 OMIM:620005 ORPHA:1187 OMIM:619303 ORPHA:77293 ORPHA:496641 ORPHA:1930 ORPHA:90117 ORPHA:254875 ORPHA:254864 ORPHA:166063 OMIM:617397

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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