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:0003416	HP:0003416	Spinal canal stenosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0003416	HP:0003416	Spinal canal stenosis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent	95
HP:0003416	HP:0003416	Spinal canal stenosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0003416	HP:0003416	Spinal canal stenosis	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003416	HP:0003416	Spinal canal stenosis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0003416	HP:0003416	Spinal canal stenosis	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0003416	HP:0003416	Spinal canal stenosis	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	48
HP:0003416	HP:0003416	Spinal canal stenosis	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	151
HP:0003416	HP:0003416	Spinal canal stenosis	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0003416	HP:0003416	Spinal canal stenosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0003416	HP:0003416	Spinal canal stenosis	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0003416	HP:0003416	Spinal canal stenosis	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003416	HP:0003416	Spinal canal stenosis	0	FGFR3 CL E G H	2261	3690	ORPHA:429	Hypochondroplasia	HP:0040283 - Occasional	145
HP:0003416	HP:0003416	Spinal canal stenosis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0003416	HP:0003416	Spinal canal stenosis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent	5
HP:0003416	HP:0003416	Spinal canal stenosis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0003416	HP:0003416	Spinal canal stenosis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0003416	HP:0003416	Spinal canal stenosis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0003416	HP:0003416	Spinal canal stenosis	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0003416	HP:0003416	Spinal canal stenosis	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0003416	HP:0003416	Spinal canal stenosis	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0003416	HP:0003416	Spinal canal stenosis	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040282 - Frequent	115
HP:0003416	HP:0003416	Spinal canal stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0003416	HP:0003416	Spinal canal stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0003416	HP:0003416	Spinal canal stenosis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0003416	HP:0003416	Spinal canal stenosis	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0003416	HP:0003416	Spinal canal stenosis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003416	HP:0003416	Spinal canal stenosis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003416	HP:0003416	Spinal canal stenosis	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0003416	HP:0003416	Spinal canal stenosis	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0003416	HP:0003416	Spinal canal stenosis	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0003416	HP:0003416	Spinal canal stenosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	113
HP:0003416	HP:0003416	Spinal canal stenosis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003416	HP:0003416	Spinal canal stenosis	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0003416	HP:0003416	Spinal canal stenosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0003416	HP:0003416	Spinal canal stenosis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0003416	HP:0003416	Spinal canal stenosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0003416	HP:0003416	Spinal canal stenosis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0003416	HP:0003416	Spinal canal stenosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent	134
HP:0003416	HP:0003416	Spinal canal stenosis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003416	HP:0003416	Spinal canal stenosis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0003416	HP:0003416	Spinal canal stenosis	0	RIPPLY2 CL E G H	134701	21390	OMIM:616566	Spondylocostal dysostosis 6, autosomal recessive	.	3
HP:0003416	HP:0003416	Spinal canal stenosis	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0003416	HP:0003416	Spinal canal stenosis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0003416	HP:0003416	Spinal canal stenosis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0003416	HP:0003416	Spinal canal stenosis	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0003416	HP:0003416	Spinal canal stenosis	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0003416	HP:0003416	Spinal canal stenosis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0003416	HP:0004610	Lumbar spinal canal stenosis	1	CL E G H
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0003416	HP:0005733	Spinal stenosis with reduced interpedicular distance	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0003416	HP:0008445	Cervical spinal canal stenosis	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29