Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal central motor function (HP:0011442)

Parent Node:
Abnormality of extrapyramidal motor function (HP:0002071)

..Starting node
..Parkinsonism (HP:0001300)

Term ID:

1300

Name:

Parkinsonism

Synonym:

Parkinsonian disease

Definition:

Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.

Comments:

Reference:

HP:0001300

Genes and Diseases:

Child Nodes:

........

Parkinsonism with favorable response to dopaminergic medication (HP:0002548)

Sister Nodes:

Athetoid cerebral palsy (HP:0011445)

Bradykinesia (HP:0002067)

Exaggerated startle response (HP:0002267)

Extrapyramidal dyskinesia (HP:0007308)

Extrapyramidal muscular rigidity (HP:0007076)

Progressive extrapyramidal movement disorder (HP:0007153)

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:0001300	HP:0001300	Parkinsonism	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0001300	HP:0001300	Parkinsonism	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0001300	HP:0001300	Parkinsonism	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	HP:0040283 - Occasional	86
HP:0001300	HP:0001300	Parkinsonism	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040283 - Occasional	86
HP:0001300	HP:0001300	Parkinsonism	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0001300	HP:0001300	Parkinsonism	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0001300	HP:0001300	Parkinsonism	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040283 - Occasional	165
HP:0001300	HP:0001300	Parkinsonism	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.	165
HP:0001300	HP:0001300	Parkinsonism	0	APOE CL E G H	348	613	OMIM:104310	Alzheimer disease 2	.	39
HP:0001300	HP:0001300	Parkinsonism	0	APP CL E G H	351	620	OMIM:104300	Alzheimer disease	.	74
HP:0001300	HP:0001300	Parkinsonism	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	74
HP:0001300	HP:0001300	Parkinsonism	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0001300	HP:0001300	Parkinsonism	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0001300	HP:0001300	Parkinsonism	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0001300	HP:0001300	Parkinsonism	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent	100
HP:0001300	HP:0001300	Parkinsonism	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001300	HP:0001300	Parkinsonism	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0001300	HP:0001300	Parkinsonism	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0001300	HP:0001300	Parkinsonism	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001300	HP:0001300	Parkinsonism	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	.	36
HP:0001300	HP:0001300	Parkinsonism	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001300	HP:0001300	Parkinsonism	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0001300	HP:0001300	Parkinsonism	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0001300	HP:0001300	Parkinsonism	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional	11
HP:0001300	HP:0001300	Parkinsonism	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001300	HP:0001300	Parkinsonism	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001300	HP:0001300	Parkinsonism	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0001300	HP:0001300	Parkinsonism	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001300	HP:0001300	Parkinsonism	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0001300	HP:0001300	Parkinsonism	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	56
HP:0001300	HP:0001300	Parkinsonism	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040283 - Occasional	56
HP:0001300	HP:0001300	Parkinsonism	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0001300	HP:0001300	Parkinsonism	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0001300	HP:0001300	Parkinsonism	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	HP:0040283 - Occasional	11
HP:0001300	HP:0001300	Parkinsonism	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	11
HP:0001300	HP:0001300	Parkinsonism	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0001300	HP:0001300	Parkinsonism	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0001300	HP:0001300	Parkinsonism	0	COASY CL E G H	80347	29932	ORPHA:397725	COASY protein-associated neurodegeneration	HP:0040281 - Very frequent	16
HP:0001300	HP:0001300	Parkinsonism	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001300	HP:0001300	Parkinsonism	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040283 - Occasional	54
HP:0001300	HP:0001300	Parkinsonism	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0001300	HP:0001300	Parkinsonism	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0001300	HP:0001300	Parkinsonism	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0001300	HP:0001300	Parkinsonism	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0001300	HP:0001300	Parkinsonism	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0001300	HP:0001300	Parkinsonism	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0001300	HP:0001300	Parkinsonism	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient		3
HP:0001300	HP:0001300	Parkinsonism	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	2
HP:0001300	HP:0001300	Parkinsonism	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0001300	HP:0001300	Parkinsonism	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0001300	HP:0001300	Parkinsonism	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001300	HP:0001300	Parkinsonism	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	2
HP:0001300	HP:0001300	Parkinsonism	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18	.	2
HP:0001300	HP:0001300	Parkinsonism	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0001300	HP:0001300	Parkinsonism	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040280 - Obligate	36
HP:0001300	HP:0001300	Parkinsonism	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001300	HP:0001300	Parkinsonism	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional	30
HP:0001300	HP:0001300	Parkinsonism	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0001300	HP:0001300	Parkinsonism	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0001300	HP:0001300	Parkinsonism	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	105
HP:0001300	HP:0001300	Parkinsonism	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0001300	HP:0001300	Parkinsonism	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0001300	HP:0001300	Parkinsonism	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0001300	HP:0001300	Parkinsonism	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0001300	HP:0001300	Parkinsonism	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate
HP:0001300	HP:0001300	Parkinsonism	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0001300	HP:0001300	Parkinsonism	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0001300	HP:0001300	Parkinsonism	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001300	HP:0001300	Parkinsonism	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	8
HP:0001300	HP:0001300	Parkinsonism	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0001300	HP:0001300	Parkinsonism	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001300	HP:0001300	Parkinsonism	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0001300	HP:0001300	Parkinsonism	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0001300	HP:0001300	Parkinsonism	0	HFE CL E G H	3077	4886	OMIM:104300	Alzheimer disease	.	38
HP:0001300	HP:0001300	Parkinsonism	0	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0001300	HP:0001300	Parkinsonism	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0001300	HP:0001300	Parkinsonism	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001300	HP:0001300	Parkinsonism	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0001300	HP:0001300	Parkinsonism	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001300	HP:0001300	Parkinsonism	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare	93
HP:0001300	HP:0001300	Parkinsonism	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	HP:0040283 - Occasional	93
HP:0001300	HP:0001300	Parkinsonism	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	221
HP:0001300	HP:0001300	Parkinsonism	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0001300	HP:0001300	Parkinsonism	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome		140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome		140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0001300	HP:0001300	Parkinsonism	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0001300	HP:0001300	Parkinsonism	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0001300	HP:0001300	Parkinsonism	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040283 - Occasional	950
HP:0001300	HP:0001300	Parkinsonism	0	MPO CL E G H	4353	7218	OMIM:104300	Alzheimer disease	.	11
HP:0001300	HP:0001300	Parkinsonism	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0001300	HP:0001300	Parkinsonism	0	NOS3 CL E G H	4846	7876	OMIM:104300	Alzheimer disease	.	8
HP:0001300	HP:0001300	Parkinsonism	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0001300	HP:0001300	Parkinsonism	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0001300	HP:0001300	Parkinsonism	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0001300	HP:0001300	Parkinsonism	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0001300	HP:0001300	Parkinsonism	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0001300	HP:0001300	Parkinsonism	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0001300	HP:0001300	Parkinsonism	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0001300	HP:0001300	Parkinsonism	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040284 - Very rare	24
HP:0001300	HP:0001300	Parkinsonism	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0001300	HP:0001300	Parkinsonism	0	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement		5
HP:0001300	HP:0001300	Parkinsonism	0	PDE10A CL E G H	10846	8772	OMIM:616922	Striatal degeneration, autosomal dominant 2		5
HP:0001300	HP:0001300	Parkinsonism	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0001300	HP:0001300	Parkinsonism	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0001300	HP:0001300	Parkinsonism	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0001300	HP:0001300	Parkinsonism	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional	28
HP:0001300	HP:0001300	Parkinsonism	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0001300	HP:0001300	Parkinsonism	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0001300	HP:0001300	Parkinsonism	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0001300	HP:0001300	Parkinsonism	0	PLAU CL E G H	5328	9052	OMIM:104300	Alzheimer disease	.	50
HP:0001300	HP:0001300	Parkinsonism	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0001300	HP:0001300	Parkinsonism	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0001300	HP:0001300	Parkinsonism	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0001300	HP:0001300	Parkinsonism	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0001300	HP:0001300	Parkinsonism	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent	5
HP:0001300	HP:0001300	Parkinsonism	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2
HP:0001300	HP:0001300	Parkinsonism	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0001300	HP:0001300	Parkinsonism	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0001300	HP:0001300	Parkinsonism	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0001300	HP:0001300	Parkinsonism	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001300	HP:0001300	Parkinsonism	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0001300	HP:0001300	Parkinsonism	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	241
HP:0001300	HP:0001300	Parkinsonism	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.	241
HP:0001300	HP:0001300	Parkinsonism	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0001300	HP:0001300	Parkinsonism	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	59
HP:0001300	HP:0001300	Parkinsonism	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0001300	HP:0001300	Parkinsonism	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0001300	HP:0001300	Parkinsonism	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0001300	HP:0001300	Parkinsonism	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0001300	HP:0001300	Parkinsonism	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0001300	HP:0001300	Parkinsonism	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0001300	HP:0001300	Parkinsonism	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0001300	HP:0001300	Parkinsonism	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0001300	HP:0001300	Parkinsonism	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0001300	HP:0001300	Parkinsonism	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0001300	HP:0001300	Parkinsonism	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1	.	42
HP:0001300	HP:0001300	Parkinsonism	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0001300	HP:0001300	Parkinsonism	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0001300	HP:0001300	Parkinsonism	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040281 - Very frequent	13
HP:0001300	HP:0001300	Parkinsonism	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0001300	HP:0001300	Parkinsonism	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0001300	HP:0001300	Parkinsonism	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	65
HP:0001300	HP:0001300	Parkinsonism	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.	65
HP:0001300	HP:0001300	Parkinsonism	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0001300	HP:0001300	Parkinsonism	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040280 - Obligate	65
HP:0001300	HP:0001300	Parkinsonism	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0001300	HP:0001300	Parkinsonism	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0001300	HP:0001300	Parkinsonism	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	3
HP:0001300	HP:0001300	Parkinsonism	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0001300	HP:0001300	Parkinsonism	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0001300	HP:0001300	Parkinsonism	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0001300	HP:0001300	Parkinsonism	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	62
HP:0001300	HP:0001300	Parkinsonism	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001300	HP:0001300	Parkinsonism	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0001300	HP:0001300	Parkinsonism	0	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked		21
HP:0001300	HP:0001300	Parkinsonism	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism		21
HP:0001300	HP:0001300	Parkinsonism	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	65
HP:0001300	HP:0001300	Parkinsonism	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	20
HP:0001300	HP:0001300	Parkinsonism	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0001300	HP:0001300	Parkinsonism	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0001300	HP:0001300	Parkinsonism	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7
HP:0001300	HP:0001300	Parkinsonism	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0001300	HP:0001300	Parkinsonism	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0001300	HP:0001300	Parkinsonism	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0001300	HP:0001300	Parkinsonism	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0001300	HP:0001300	Parkinsonism	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0001300	HP:0001300	Parkinsonism	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001300	HP:0001300	Parkinsonism	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0001300	HP:0001300	Parkinsonism	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent	31
HP:0001300	HP:0001300	Parkinsonism	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0001300	HP:0001300	Parkinsonism	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0001300	HP:0001300	Parkinsonism	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0001300	HP:0001300	Parkinsonism	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0001300	HP:0001300	Parkinsonism	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040284 - Very rare	113
HP:0001300	HP:0001300	Parkinsonism	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1
HP:0001300	HP:0001300	Parkinsonism	0	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0001300	HP:0001300	Parkinsonism	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0001300	HP:0001300	Parkinsonism	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0001300	HP:0001300	Parkinsonism	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent	63
HP:0001300	HP:0001300	Parkinsonism	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63
HP:0001300	HP:0001300	Parkinsonism	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0001300	HP:0001300	Parkinsonism	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0001300	HP:0001300	Parkinsonism	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset		8
HP:0001300	HP:0001300	Parkinsonism	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040280 - Obligate	37
HP:0001300	HP:0001300	Parkinsonism	0	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0001300	HP:0001300	Parkinsonism	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0001300	HP:0001300	Parkinsonism	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0001300	HP:0001300	Parkinsonism	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51
HP:0001300	HP:0001300	Parkinsonism	0	XPR1 CL E G H	9213	12827	OMIM:616413	Basal ganglia calcification, idiopathic, 6	.	4
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent	100
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040283 - Occasional	140
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040281 - Very frequent	140
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	PDE10A CL E G H	10846	8772	ORPHA:494541	Childhood-onset benign chorea with striatal involvement	HP:0040283 - Occasional	5
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked	.	21
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0001300	HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	37

Genes (126) :ABCA7 ADH1C AFG3L2 ALS2 AOPEP AP5Z1 APOE APP ATN1 ATP13A2 ATP1A3 ATP6AP2 ATP7B ATXN2 ATXN3 ATXN8OS C19ORF12 C9ORF72 CAT CHCHD10 CHMP2B CLN3 COASY COQ2 CP CSF1R CYP27A1 DCTN1 DNAJC12 DNAJC13 DNAJC5 DNAJC6 EIF2AK2 EIF4G1 FBXO7 FMR1 FTL FUS GABRA1 GABRG2 GBA1 GCH1 GIGYF2 GLUD2 GRN HFE HTRA2 IMPDH2 JAM2 JPH3 KCNN2 KIF5A LRRK2 LYST MAPT MECP2 MPO MYORG NOS3 NOTCH3 NR4A2 PANK2 PARK7 PCBD1 PCDH19 PDE10A PDGFB PDGFRB PINK1 PLA2G6 PLAU POLG PPP2R2B PRKAR1B PRKN PRKRA PRNP PSAP PSEN1 PSEN2 PTS RAB39B SCN1A SCN1B SCN2A SCN9A SIGMAR1 SLC18A2 SLC20A2 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SNCB SORL1 SPG11 SPTLC1 SQSTM1 STUB1 SYNJ1 TAF1 TARDBP TBK1 TBP TH TK2 TMEM106B TMEM240 TNR TOMM40 TREM2 TRNT TRPM7 TSPOAP1 TWNK UBTF UCHL1 UQCRC1 VCP VPS13A VPS13C VPS35 WARS2 WDR45 XPR1

Diseases (138) :ORPHA:1020 OMIM:168600 OMIM:610246 ORPHA:101109 ORPHA:300605 OMIM:619565 ORPHA:306511 OMIM:613647 OMIM:104310 OMIM:104300 OMIM:125370 ORPHA:314632 OMIM:606693 ORPHA:306674 OMIM:617225 OMIM:128235 ORPHA:71517 OMIM:300423 OMIM:300911 OMIM:277900 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:289560 OMIM:614298 OMIM:105550 ORPHA:275872 ORPHA:401901 ORPHA:100070 ORPHA:926 OMIM:615911 OMIM:204200 ORPHA:397725 OMIM:146500 ORPHA:227510 ORPHA:98933 ORPHA:48818 OMIM:221820 ORPHA:909 ORPHA:178509 OMIM:168605 OMIM:617384 ORPHA:411602 OMIM:162350 OMIM:615528 OMIM:618877 OMIM:614251 OMIM:260300 ORPHA:171695 OMIM:300623 ORPHA:93256 OMIM:606159 ORPHA:157846 ORPHA:33069 OMIM:127750 ORPHA:98808 OMIM:128230 OMIM:607688 OMIM:607485 OMIM:610297 OMIM:618824 ORPHA:98934 OMIM:619725 ORPHA:100991 OMIM:604187 OMIM:607060 ORPHA:167 ORPHA:240071 OMIM:600274 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:260540 OMIM:601104 OMIM:300055 ORPHA:3077 OMIM:618317 ORPHA:136 OMIM:619911 ORPHA:216873 OMIM:234200 OMIM:606324 ORPHA:1578 ORPHA:494541 OMIM:616922 OMIM:213600 OMIM:615483 OMIM:615007 OMIM:605909 ORPHA:199351 OMIM:612953 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:604326 ORPHA:98762 ORPHA:412066 OMIM:600116 ORPHA:210571 OMIM:612067 OMIM:137440 OMIM:619491 OMIM:261640 OMIM:311510 ORPHA:352649 OMIM:618049 OMIM:613280 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 OMIM:168601 OMIM:605543 ORPHA:2822 OMIM:618093 OMIM:615530 OMIM:314250 ORPHA:53351 OMIM:607136 ORPHA:98759 ORPHA:101150 OMIM:605407 OMIM:607454 OMIM:619653 OMIM:105500 OMIM:609286 OMIM:617672 OMIM:613643 OMIM:619279 ORPHA:329478 OMIM:200150 ORPHA:2388 OMIM:616840 OMIM:614203 OMIM:619738 ORPHA:329284 OMIM:300894 OMIM:616413

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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