Human Phenotype Ontology

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:0002091	HP:0002091	Restrictive ventilatory defect	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	74
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	53
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	88
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	139
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	15
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RA CL E G H	1438	2435	OMIM:300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4		15
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040282 - Frequent	17
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	91
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent	240
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	124
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MESP2 CL E G H	145873	29659	OMIM:608681	Spondylocostal dysostosis 2, autosomal recessive		45
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	72
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	73
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	263
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis	.	7
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	HP:0040284 - Very rare	1129
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional	27
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	1090
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	2738
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95