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:0002191	HP:0002191	Progressive spasticity	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002191	HP:0002191	Progressive spasticity	0	ARG1 CL E G H	383	663	ORPHA:90	Argininemia		31
HP:0002191	HP:0002191	Progressive spasticity	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0002191	HP:0002191	Progressive spasticity	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0002191	HP:0002191	Progressive spasticity	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0002191	HP:0002191	Progressive spasticity	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0002191	HP:0002191	Progressive spasticity	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0002191	HP:0002191	Progressive spasticity	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0002191	HP:0002191	Progressive spasticity	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration		76
HP:0002191	HP:0002191	Progressive spasticity	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0002191	HP:0002191	Progressive spasticity	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0002191	HP:0002191	Progressive spasticity	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040281 - Very frequent	17
HP:0002191	HP:0002191	Progressive spasticity	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0002191	HP:0002191	Progressive spasticity	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0002191	HP:0002191	Progressive spasticity	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0002191	HP:0002191	Progressive spasticity	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002191	HP:0002191	Progressive spasticity	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0002191	HP:0002191	Progressive spasticity	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0002191	HP:0002191	Progressive spasticity	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0002191	HP:0002191	Progressive spasticity	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0002191	HP:0002191	Progressive spasticity	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0002191	HP:0002191	Progressive spasticity	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0002191	HP:0002191	Progressive spasticity	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0002191	HP:0002191	Progressive spasticity	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002191	HP:0002191	Progressive spasticity	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent	464
HP:0002191	HP:0002191	Progressive spasticity	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0002191	HP:0002191	Progressive spasticity	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0002191	HP:0002191	Progressive spasticity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0002191	HP:0002191	Progressive spasticity	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent	287
HP:0002191	HP:0002191	Progressive spasticity	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002191	HP:0002191	Progressive spasticity	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002191	HP:0002191	Progressive spasticity	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	ARG1 CL E G H	383	663	ORPHA:90	Argininemia	HP:0040282 - Frequent	31
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia	.	31
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	253
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040284 - Very rare	231
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040283 - Occasional	60
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional	81
HP:0002191	HP:0002478	Progressive spastic quadriplegia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA