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:0004568	HP:0004568	Beaking of vertebral bodies	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional	76
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.	284
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.	120
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7		54
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040282 - Frequent	134
HP:0004568	HP:0004568	Beaking of vertebral bodies	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0004568	HP:0004630	Anterior beaking of thoracic vertebrae	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0004568	HP:0004562	Beaking of vertebral bodies T12-L3	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0004568	HP:0004562	Beaking of vertebral bodies T12-L3	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004568	HP:0004607	Anterior beaking of lower thoracic vertebrae	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004568	HP:0004607	Anterior beaking of lower thoracic vertebrae	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0004568	HP:0008430	Anterior beaking of lumbar vertebrae	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0004568	HP:0004562	Beaking of vertebral bodies T12-L3	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0004568	HP:0005680	Tongue-like lumbar vertebral deformities	2	CL E G H