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:0100569	HP:0100569	Abnormally ossified vertebrae	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis		78
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent	284
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent	284
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis		68
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100569	HP:0100569	Abnormally ossified vertebrae	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0100569	HP:0012711	Delayed ossification of vertebral epiphysis	1	CL E G H
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0100569	HP:0031096	Delayed vertebral ossification	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0100569	HP:0031096	Delayed vertebral ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II		284
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0100569	HP:0004598	Supernumerary vertebral ossification centers	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.	70
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100569	HP:0004598	Supernumerary vertebral ossification centers	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.	13
HP:0100569	HP:0031096	Delayed vertebral ossification	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100569	HP:0004599	Absent or minimally ossified vertebral bodies	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0100569	HP:0012792	Absent ossification of thoracic vertebral bodies	2	CL E G H
HP:0100569	HP:0005885	Absent ossification of cervical vertebral bodies	2	CL E G H
HP:0100569	HP:0004606	Unossified vertebral bodies	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0100569	HP:0004606	Unossified vertebral bodies	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100569	HP:0004605	Absent vertebral body mineralization	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0100569	HP:0004605	Absent vertebral body mineralization	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0100569	HP:0100856	Poorly ossified vertebrae	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0100569	HP:0100856	Poorly ossified vertebrae	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0100569	HP:0100856	Poorly ossified vertebrae	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0100569	HP:0004606	Unossified vertebral bodies	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0100569	HP:0100856	Poorly ossified vertebrae	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100569	HP:0008435	Absent in utero ossification of vertebral bodies	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0100569	HP:0008477	Poorly ossified cervical vertebrae	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0100569	HP:0008477	Poorly ossified cervical vertebrae	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109