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

..Starting node
..Reduced forced vital capacity (HP:0032341)

Term ID:

32341

Name:

Reduced forced vital capacity

Synonym:

Decreased forced vital capacity; Reduced FVC

Definition:

An abnormal reduction in the amount of air a person can expel following maximal inspiration.

Comments:

Reference:

HP:0032341

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:0032341	HP:0032341	Reduced forced vital capacity	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0032341	HP:0032341	Reduced forced vital capacity	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0032341	HP:0032341	Reduced forced vital capacity	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0032341	HP:0032341	Reduced forced vital capacity	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0032341	HP:0032341	Reduced forced vital capacity	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0032341	HP:0032341	Reduced forced vital capacity	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0032341	HP:0032341	Reduced forced vital capacity	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0032341	HP:0032341	Reduced forced vital capacity	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0032341	HP:0032341	Reduced forced vital capacity	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0032341	HP:0032341	Reduced forced vital capacity	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0032341	HP:0032341	Reduced forced vital capacity	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0032341	HP:0032341	Reduced forced vital capacity	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0032341	HP:0032341	Reduced forced vital capacity	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0032341	HP:0032341	Reduced forced vital capacity	0	NEK10 CL E G H	152110	18592	OMIM:618781	CILIARY DYSKINESIA, PRIMARY, 44; CILD44
HP:0032341	HP:0032341	Reduced forced vital capacity	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0032341	HP:0032341	Reduced forced vital capacity	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0032341	HP:0032341	Reduced forced vital capacity	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0032341	HP:0032341	Reduced forced vital capacity	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0032341	HP:0032341	Reduced forced vital capacity	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0032341	HP:0032341	Reduced forced vital capacity	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0032341	HP:0032341	Reduced forced vital capacity	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0032341	HP:0032341	Reduced forced vital capacity	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0032341	HP:0032341	Reduced forced vital capacity	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0032341	HP:0032341	Reduced forced vital capacity	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0032341	HP:0032341	Reduced forced vital capacity	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0032341	HP:0032341	Reduced forced vital capacity	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0032341	HP:0032357	Decreased post-bronchodilator forced vital capacity	1	CL E G H
HP:0032341	HP:0032356	Decreased pre-bronchodilator forced vital capacity	1	CL E G H

Genes (26) :ACTA1 BAG3 CFTR COL6A2 CRPPA CSF2RA FCGR2A FKRP GGPS1 JAG2 LRP12 MCIDAS MYH7 NEK10 PARN RTEL1 RYR1 SELENON SFTPC SLC25A21 STK36 SYT2 TGFB1 TPM2 TPM3 UNC45B

Diseases (19) :OMIM:255310 OMIM:612954 OMIM:219700 OMIM:255600 OMIM:616052 OMIM:300770 OMIM:607155 OMIM:619518 OMIM:619566 OMIM:164310 OMIM:618695 OMIM:618781 OMIM:616371 OMIM:616373 OMIM:610913 OMIM:618811 OMIM:619436 OMIM:619461 OMIM:619178

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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