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:0100561	HP:0100561	Spinal cord lesion	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0100561	HP:0100561	Spinal cord lesion	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency		13
HP:0100561	HP:0100561	Spinal cord lesion	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0100561	HP:0100561	Spinal cord lesion	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0100561	HP:0100561	Spinal cord lesion	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0100561	HP:0100561	Spinal cord lesion	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0100561	HP:0100561	Spinal cord lesion	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0100561	HP:0100561	Spinal cord lesion	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome		88
HP:0100561	HP:0100561	Spinal cord lesion	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0100561	HP:0100561	Spinal cord lesion	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0100561	HP:0100561	Spinal cord lesion	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0100561	HP:0100561	Spinal cord lesion	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0100561	HP:0100561	Spinal cord lesion	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0100561	HP:0100561	Spinal cord lesion	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0100561	HP:0100561	Spinal cord lesion	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0100561	HP:0100561	Spinal cord lesion	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100561	HP:0100561	Spinal cord lesion	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0100561	HP:0100561	Spinal cord lesion	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0100561	HP:0100561	Spinal cord lesion	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome		2
HP:0100561	HP:0100561	Spinal cord lesion	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0100561	HP:0100561	Spinal cord lesion	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0100561	HP:0100561	Spinal cord lesion	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0100561	HP:0100561	Spinal cord lesion	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0100561	HP:0100561	Spinal cord lesion	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome		68
HP:0100561	HP:0100561	Spinal cord lesion	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0100561	HP:0100561	Spinal cord lesion	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0100561	HP:0100561	Spinal cord lesion	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0100561	HP:0100561	Spinal cord lesion	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0100561	HP:0100561	Spinal cord lesion	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0100561	HP:0100561	Spinal cord lesion	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0100561	HP:0100561	Spinal cord lesion	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0100561	HP:0100561	Spinal cord lesion	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0100561	HP:0100561	Spinal cord lesion	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0100561	HP:0100561	Spinal cord lesion	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0100561	HP:0100561	Spinal cord lesion	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0100561	HP:0100561	Spinal cord lesion	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0100561	HP:0100561	Spinal cord lesion	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent	48
HP:0100561	HP:0100561	Spinal cord lesion	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0100561	HP:0100561	Spinal cord lesion	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0100561	HP:0100561	Spinal cord lesion	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0100561	HP:0100561	Spinal cord lesion	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0100561	HP:0100566	Amyelia	1	CL E G H
HP:0100561	HP:0100564	Triplomyelia	1	CL E G H
HP:0100561	HP:0100563	Diastomatomyelia	1	CL E G H
HP:0100561	HP:0100562	Diplomyelia	1	CL E G H
HP:0100561	HP:0003396	Syringomyelia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0100561	HP:0003396	Syringomyelia	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0100561	HP:0100565	Hydromyelia	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0100561	HP:0003396	Syringomyelia	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0100561	HP:0003396	Syringomyelia	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0100561	HP:0003396	Syringomyelia	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0100561	HP:0003396	Syringomyelia	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0100561	HP:0003396	Syringomyelia	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0100561	HP:0003396	Syringomyelia	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0100561	HP:0003396	Syringomyelia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0100561	HP:0003396	Syringomyelia	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0100561	HP:0003396	Syringomyelia	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0100561	HP:0003396	Syringomyelia	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0100561	HP:0003396	Syringomyelia	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0100561	HP:0003396	Syringomyelia	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0100561	HP:0003396	Syringomyelia	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0100561	HP:0003396	Syringomyelia	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100561	HP:0003396	Syringomyelia	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0100561	HP:0003396	Syringomyelia	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0100561	HP:0003396	Syringomyelia	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0100561	HP:0003396	Syringomyelia	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0100561	HP:0003396	Syringomyelia	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0100561	HP:0003396	Syringomyelia	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0100561	HP:0003396	Syringomyelia	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0100561	HP:0003396	Syringomyelia	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0100561	HP:0003396	Syringomyelia	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0100561	HP:0003396	Syringomyelia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0100561	HP:0003396	Syringomyelia	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0100561	HP:0003396	Syringomyelia	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0100561	HP:0003396	Syringomyelia	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0100561	HP:0003396	Syringomyelia	1	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	HP:0040283 - Occasional	19
HP:0100561	HP:0100565	Hydromyelia	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111