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:0003552	HP:0003552	Muscle stiffness	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0003552	HP:0003552	Muscle stiffness	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.	200
HP:0003552	HP:0003552	Muscle stiffness	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0003552	HP:0003552	Muscle stiffness	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0003552	HP:0003552	Muscle stiffness	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0003552	HP:0003552	Muscle stiffness	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040282 - Frequent	304
HP:0003552	HP:0003552	Muscle stiffness	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0003552	HP:0003552	Muscle stiffness	0	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	HP:0040281 - Very frequent	166
HP:0003552	HP:0003552	Muscle stiffness	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0003552	HP:0003552	Muscle stiffness	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003552	HP:0003552	Muscle stiffness	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0003552	HP:0003552	Muscle stiffness	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003552	HP:0003552	Muscle stiffness	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0003552	HP:0003552	Muscle stiffness	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0003552	HP:0003552	Muscle stiffness	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0003552	HP:0003552	Muscle stiffness	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0003552	HP:0003552	Muscle stiffness	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003552	HP:0003552	Muscle stiffness	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003552	HP:0003552	Muscle stiffness	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003552	HP:0003552	Muscle stiffness	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.	101
HP:0003552	HP:0003552	Muscle stiffness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional	46
HP:0003552	HP:0003552	Muscle stiffness	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome		60
HP:0003552	HP:0003552	Muscle stiffness	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0003552	HP:0003552	Muscle stiffness	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0003552	HP:0003552	Muscle stiffness	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0003552	HP:0003552	Muscle stiffness	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0003552	HP:0003552	Muscle stiffness	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0003552	HP:0003552	Muscle stiffness	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0003552	HP:0003552	Muscle stiffness	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0003552	HP:0003552	Muscle stiffness	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0003552	HP:0003552	Muscle stiffness	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0003552	HP:0003552	Muscle stiffness	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0003552	HP:0003552	Muscle stiffness	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0003552	HP:0003552	Muscle stiffness	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003552	HP:0003552	Muscle stiffness	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0003552	HP:0003552	Muscle stiffness	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0003552	HP:0003552	Muscle stiffness	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0003552	HP:0003552	Muscle stiffness	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0003552	HP:0003552	Muscle stiffness	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003552	HP:0003552	Muscle stiffness	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0003552	HP:0003552	Muscle stiffness	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0003552	HP:0003552	Muscle stiffness	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0003552	HP:0003552	Muscle stiffness	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0003552	HP:0003552	Muscle stiffness	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0003552	HP:0003552	Muscle stiffness	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0003552	HP:0003552	Muscle stiffness	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0003552	HP:0003552	Muscle stiffness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0003552	HP:0003552	Muscle stiffness	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0003552	HP:0003552	Muscle stiffness	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003552	HP:0003552	Muscle stiffness	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome		140
HP:0003552	HP:0003552	Muscle stiffness	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome		140
HP:0003552	HP:0003552	Muscle stiffness	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003552	HP:0003552	Muscle stiffness	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0003552	HP:0003552	Muscle stiffness	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0003552	HP:0003552	Muscle stiffness	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0003552	HP:0003552	Muscle stiffness	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0003552	HP:0003552	Muscle stiffness	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0003552	HP:0003552	Muscle stiffness	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0003552	HP:0003552	Muscle stiffness	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0003552	HP:0003552	Muscle stiffness	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0003552	HP:0003552	Muscle stiffness	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0003552	HP:0003552	Muscle stiffness	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0003552	HP:0003552	Muscle stiffness	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2
HP:0003552	HP:0003552	Muscle stiffness	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0003552	HP:0003552	Muscle stiffness	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency		166
HP:0003552	HP:0003552	Muscle stiffness	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0003552	HP:0003552	Muscle stiffness	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0003552	HP:0003552	Muscle stiffness	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0003552	HP:0003552	Muscle stiffness	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0003552	HP:0003552	Muscle stiffness	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0003552	HP:0003552	Muscle stiffness	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0003552	HP:0003552	Muscle stiffness	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent	1200
HP:0003552	HP:0003552	Muscle stiffness	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0003552	HP:0003552	Muscle stiffness	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0003552	HP:0003552	Muscle stiffness	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040281 - Very frequent	263
HP:0003552	HP:0003552	Muscle stiffness	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	263
HP:0003552	HP:0003552	Muscle stiffness	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0003552	HP:0003552	Muscle stiffness	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0003552	HP:0003552	Muscle stiffness	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0003552	HP:0003552	Muscle stiffness	0	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect		74
HP:0003552	HP:0003552	Muscle stiffness	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0003552	HP:0003552	Muscle stiffness	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	81
HP:0003552	HP:0003552	Muscle stiffness	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3	.	81
HP:0003552	HP:0003552	Muscle stiffness	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0003552	HP:0003552	Muscle stiffness	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0003552	HP:0003552	Muscle stiffness	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003552	HP:0003552	Muscle stiffness	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0003552	HP:0003552	Muscle stiffness	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0003552	HP:0003552	Muscle stiffness	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant	.	131
HP:0003552	HP:0003552	Muscle stiffness	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0003552	HP:0003552	Muscle stiffness	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0003552	HP:0003552	Muscle stiffness	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0003552	HP:0003552	Muscle stiffness	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1		2
HP:0003552	HP:0003552	Muscle stiffness	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0003552	HP:0003552	Muscle stiffness	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0003552	HP:0007156	Asymmetric limb muscle stiffness	1	CL E G H
HP:0003552	HP:0007066	Proximal limb muscle stiffness	1	CL E G H
HP:0003552	HP:0008969	Leg muscle stiffness	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0003552	HP:0008969	Leg muscle stiffness	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0003552	HP:0008969	Leg muscle stiffness	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003552	HP:0008969	Leg muscle stiffness	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003552	HP:0008969	Leg muscle stiffness	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003552	HP:0008969	Leg muscle stiffness	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional	60
HP:0003552	HP:0008969	Leg muscle stiffness	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0003552	HP:0008969	Leg muscle stiffness	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0003552	HP:0008969	Leg muscle stiffness	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0003552	HP:0008969	Leg muscle stiffness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional	286
HP:0003552	HP:0006921	Axial muscle stiffness	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0003552	HP:0006921	Axial muscle stiffness	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent	140
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.	54
HP:0003552	HP:0008969	Leg muscle stiffness	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0003552	HP:0008969	Leg muscle stiffness	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	6
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040282 - Frequent	263
HP:0003552	HP:0008967	Exercise-induced muscle stiffness	1	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0003552	HP:0008969	Leg muscle stiffness	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0003552	HP:0008969	Leg muscle stiffness	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent	9
HP:0003552	HP:0008969	Leg muscle stiffness	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent	2
HP:0003552	HP:0008969	Leg muscle stiffness	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0003552	HP:0008969	Leg muscle stiffness	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189