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:0100712	HP:0100712	Abnormal lumbar spine morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations		14
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0100712	HP:0100712	Abnormal lumbar spine morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0100712	HP:0041168	Fractured lumbar vertebra	1	CL E G H
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0100712	HP:0008454	Lumbar kyphosis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0100712	HP:0200133	Lumbosacral meningocele	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100712	HP:0008454	Lumbar kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040281 - Very frequent	145
HP:0100712	HP:0008454	Lumbar kyphosis	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0100712	HP:0008454	Lumbar kyphosis	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional	14
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0100712	HP:0008454	Lumbar kyphosis	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0100712	HP:0008454	Lumbar kyphosis	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0100712	HP:0200133	Lumbosacral meningocele	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS	.	80
HP:0100712	HP:0005619	Thoracolumbar kyphosis	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0100712	HP:0008454	Lumbar kyphosis	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0100712	HP:0041087	Compression-fractured lumbar vertebra	2	CL E G H
HP:0100712	HP:0004619	Lumbar kyphoscoliosis	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent	2
HP:0100712	HP:0004619	Lumbar kyphoscoliosis	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0100712	HP:0008414	Lumbar kyphosis in infancy	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0100712	HP:0003423	Thoracolumbar kyphoscoliosis	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166