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:0003300	HP:0003300	Ovoid vertebral bodies	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	284
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	1361
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040281 - Very frequent	9
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent	44
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040283 - Occasional	12
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0003300	HP:0003300	Ovoid vertebral bodies	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0003300	HP:0003309	Ovoid thoracolumbar vertebrae	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003300	HP:0003309	Ovoid thoracolumbar vertebrae	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0003300	HP:0003309	Ovoid thoracolumbar vertebrae	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0003300	HP:0003309	Ovoid thoracolumbar vertebrae	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0003300	HP:0008488	Anterior rounding of vertebral bodies	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5