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:0008422	HP:0008422	Vertebral wedging	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0008422	HP:0008422	Vertebral wedging	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0008422	HP:0008422	Vertebral wedging	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7		85
HP:0008422	HP:0008422	Vertebral wedging	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0008422	HP:0008422	Vertebral wedging	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0008422	HP:0008422	Vertebral wedging	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0008422	HP:0008422	Vertebral wedging	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0008422	HP:0008422	Vertebral wedging	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0008422	HP:0008422	Vertebral wedging	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0008422	HP:0008422	Vertebral wedging	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0008422	HP:0008422	Vertebral wedging	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0008422	HP:0008422	Vertebral wedging	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.	8
HP:0008422	HP:0008422	Vertebral wedging	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0008422	HP:0008422	Vertebral wedging	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.	22
HP:0008422	HP:0008422	Vertebral wedging	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0008422	HP:0008422	Vertebral wedging	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0008422	HP:0008422	Vertebral wedging	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	665
HP:0008422	HP:0008422	Vertebral wedging	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0008422	HP:0008422	Vertebral wedging	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	40
HP:0008422	HP:0008422	Vertebral wedging	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0008422	HP:0008422	Vertebral wedging	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia		2
HP:0008422	HP:0008422	Vertebral wedging	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0008422	HP:0008422	Vertebral wedging	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040282 - Frequent	124
HP:0008422	HP:0008422	Vertebral wedging	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0008422	HP:0008432	Anterior wedging of L1	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0008422	HP:0011941	Anterior wedging of L2	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0008422	HP:0004573	Anterior wedging of T11	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0008422	HP:0011940	Anterior wedging of T12	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0008422	HP:0011940	Anterior wedging of T12	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0008422	HP:0008444	Posterior wedging of vertebral bodies	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0008422	HP:0008444	Posterior wedging of vertebral bodies	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2