Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	224	124	171640
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	248	15559	615903
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	1820	2200	120140
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RA CL E G H	1438	264675				ORPHA	1	451	2435	306250
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RA CL E G H	1438	300770	Surfactant metabolism dysfunction, pulmonary, 4	300770	C2677877	OMIM	1	451	2435	306250
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CSF2RB CL E G H	1439	264675				ORPHA	1	361	2436	138981
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	266	2731	191311
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	FLNB CL E G H	2317	272460	Spondylocarpotarsal synostosis syndrome	272460	C1848934	OMIM	1	1155	3755	603381
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HPS1 CL E G H	3257	203300	Hermansky-Pudlak syndrome 1	203300	C2931875	OMIM	1	633	5163	604982
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HPS4 CL E G H	89781	614073	Hermansky-Pudlak syndrome 4	614073	C3484357	OMIM	1	393	15844	606682
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	794	29634	612453
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	OAS1 CL E G H	4938	264675				ORPHA	1	152	8086	164350
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	755	26270	613629
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	484	10809	608896
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TSC1 CL E G H	7248	538				ORPHA	1	3690	12362	605284
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TSC2 CL E G H	7249	538				ORPHA	1	8495	12363	191092
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	AGRN CL E G H	375790	98913				ORPHA	0	1782	329	103320
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	AK9 CL E G H	221264	98913				ORPHA	0	48	33814	615358
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CD19 CL E G H	930	1572				ORPHA	0	325	1633	107265
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CD81 CL E G H	975	1572				ORPHA	0	148	1701	186845
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNA1 CL E G H	1134	98913				ORPHA	0	398	1955	100690
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNB1 CL E G H	1140	98913				ORPHA	0	357	1961	100710
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRND CL E G H	1144	98913				ORPHA	0	408	1965	100720
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CHRNE CL E G H	1145	98913				ORPHA	0	795	1966	100725
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	COL13A1 CL E G H	1305	98913				ORPHA	0	397	2190	120350
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CR2 CL E G H	1380	1572				ORPHA	0	516	2336	120650
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	CTLA4 CL E G H	1493	900				ORPHA	0	190	2505	123890
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DNASE1L3 CL E G H	1776	36412				ORPHA	0	133	2959	602244
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	DOK7 CL E G H	285489	98913				ORPHA	0	840	26594	610285
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-B CL E G H	3106	36426				ORPHA	0	18	4932	142830
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DPA1 CL E G H	3113	900				ORPHA	0	15	4938	142880
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	HLA-DPB1 CL E G H	3115	900				ORPHA	0	15	4940	142858
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	ICOS CL E G H	29851	1572				ORPHA	0	169	5351	604558
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	IKZF1 CL E G H	10320	36426				ORPHA	0	97	13176	603023
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	LRP4 CL E G H	4038	98913				ORPHA	0	790	6696	604270
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MS4A1 CL E G H	931	1572				ORPHA	0	82	7315	112210
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	MUSK CL E G H	4593	98913				ORPHA	0	496	7525	601296
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NFKB1 CL E G H	4790	1572				ORPHA	0	384	7794	164011
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NFKB2 CL E G H	4791	1572				ORPHA	0	396	7795	164012
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	0	752	16400	606416
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PRKCD CL E G H	5580	1572				ORPHA	0	345	9399	176977
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PRTN3 CL E G H	5657	900				ORPHA	0	47	9495	177020
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	PTPN22 CL E G H	26191	900				ORPHA	0	34	9652	600716
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RAPSN CL E G H	5913	98913				ORPHA	0	433	9863	601592
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	RNF168 CL E G H	165918	420741				ORPHA	0	266	26661	612688
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	SCN4A CL E G H	6329	98913				ORPHA	0	1391	10591	603967
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFRSF13B CL E G H	23495	1572				ORPHA	0	341	18153	604907
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFRSF13C CL E G H	115650	1572				ORPHA	0	138	17755	606269
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TNFSF12 CL E G H	8742	1572				ORPHA	0	152	11927	602695
HP:0002091	HP:0002091	Restrictive ventilatory defect	0	TRAPPC11 CL E G H	60684	369847				ORPHA	0	774	25751	614138