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:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent	164
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia		165
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type		284
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	10
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria		77
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	13
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature		12
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	5
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	1
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	3
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome		125
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent	44
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040283 - Occasional	14
HP:0005108	HP:0005108	Abnormal intervertebral disk morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent	5
HP:0005108	HP:0025679	Diskitis	1	CL E G H
HP:0005108	HP:0030320	Increased intervertebral space	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0005108	HP:0002945	Intervertebral space narrowing	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0005108	HP:0002945	Intervertebral space narrowing	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0005108	HP:0002945	Intervertebral space narrowing	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0005108	HP:0002945	Intervertebral space narrowing	1	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0005108	HP:0002945	Intervertebral space narrowing	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0005108	HP:0002945	Intervertebral space narrowing	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0005108	HP:0005645	Intervertebral disk calcification	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0005108	HP:0030320	Increased intervertebral space	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005108	HP:0002945	Intervertebral space narrowing	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0005108	HP:0005645	Intervertebral disk calcification	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent	77
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0005108	HP:0008441	Herniation of intervertebral nuclei	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0005108	HP:0002945	Intervertebral space narrowing	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0005108	HP:0008441	Herniation of intervertebral nuclei	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0005108	HP:0005645	Intervertebral disk calcification	1	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0005108	HP:0030320	Increased intervertebral space	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005108	HP:0002945	Intervertebral space narrowing	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome		125
HP:0005108	HP:0030320	Increased intervertebral space	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0005108	HP:0008419	Intervertebral disc degeneration	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0005108	HP:0030320	Increased intervertebral space	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0005108	HP:0002945	Intervertebral space narrowing	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0005108	HP:0002945	Intervertebral space narrowing	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0005108	HP:0030320	Increased intervertebral space	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214
HP:0005108	HP:0004622	Progressive intervertebral space narrowing	2	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0005108	HP:0004622	Progressive intervertebral space narrowing	2	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0005108	HP:0004622	Progressive intervertebral space narrowing	2	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent