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:
Weakness due to upper motor neuron dysfunction (HP:0010549)

Parent Node:
Hemiplegia/hemiparesis (HP:0004374)

..Starting node
..Hemiplegia (HP:0002301)

Term ID:

2301

Name:

Hemiplegia

Synonym:

Paralysis on one side of body

Definition:

Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.

Comments:

Reference:

HP:0002301

Genes and Diseases:

Child Nodes:

........

Episodic hemiplegia (HP:0012194)

........

Left hemiplegia (HP:0040292)

........

Right hemiplegia (HP:0040293)

Sister Nodes:

Hemiparesis (HP:0001269)

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:0002301	HP:0002301	Hemiplegia	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0002301	HP:0002301	Hemiplegia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002301	HP:0002301	Hemiplegia	0	ARX CL E G H	170302	18060	ORPHA:3175	X-linked spasticity-intellectual disability-epilepsy syndrome	HP:0040281 - Very frequent	166
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0002301	HP:0002301	Hemiplegia	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150
HP:0002301	HP:0002301	Hemiplegia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0002301	HP:0002301	Hemiplegia	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0002301	HP:0002301	Hemiplegia	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040282 - Frequent	449
HP:0002301	HP:0002301	Hemiplegia	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.	449
HP:0002301	HP:0002301	Hemiplegia	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0002301	HP:0002301	Hemiplegia	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002301	HP:0002301	Hemiplegia	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002301	HP:0002301	Hemiplegia	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002301	HP:0002301	Hemiplegia	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0002301	HP:0002301	Hemiplegia	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0002301	HP:0002301	Hemiplegia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002301	HP:0002301	Hemiplegia	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0002301	HP:0002301	Hemiplegia	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040284 - Very rare	160
HP:0002301	HP:0002301	Hemiplegia	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0002301	HP:0002301	Hemiplegia	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0002301	HP:0002301	Hemiplegia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002301	HP:0002301	Hemiplegia	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002301	HP:0002301	Hemiplegia	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0002301	HP:0002301	Hemiplegia	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002301	HP:0002301	Hemiplegia	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0002301	HP:0002301	Hemiplegia	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0002301	HP:0002301	Hemiplegia	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0002301	HP:0002301	Hemiplegia	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional	641
HP:0002301	HP:0002301	Hemiplegia	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0002301	HP:0002301	Hemiplegia	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0002301	HP:0002301	Hemiplegia	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002301	HP:0002301	Hemiplegia	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0002301	HP:0002301	Hemiplegia	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0002301	HP:0002301	Hemiplegia	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.	1053
HP:0002301	HP:0002301	Hemiplegia	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0002301	HP:0002301	Hemiplegia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0002301	HP:0002301	Hemiplegia	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional	63
HP:0002301	HP:0002301	Hemiplegia	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.	63
HP:0002301	HP:0002301	Hemiplegia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002301	HP:0002301	Hemiplegia	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0002301	HP:0002301	Hemiplegia	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002301	HP:0002301	Hemiplegia	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0002301	HP:0002301	Hemiplegia	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA	.	40
HP:0002301	HP:0002301	Hemiplegia	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040283 - Occasional	271
HP:0002301	HP:0040292	Left hemiplegia	1	CL E G H
HP:0002301	HP:0012194	Episodic hemiplegia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	239
HP:0002301	HP:0012194	Episodic hemiplegia	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0002301	HP:0012194	Episodic hemiplegia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	150
HP:0002301	HP:0012194	Episodic hemiplegia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	449
HP:0002301	HP:0040293	Right hemiplegia	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0002301	HP:0012194	Episodic hemiplegia	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	63

Genes (36) :ADA2 ARX ATP1A2 ATP1A3 CACNA1A COL4A1 COL4A2 COQ2 CTC1 CTLA4 CYTB DOCK8 FGFR1 GALC GNAQ GNB1 HLA-DPA1 HLA-DPB1 IRAK1 KRAS NOTCH3 NPPA PAH PRF1 PRRT2 PRTN3 PTPN22 SCN1A SCN5A SLC1A3 SMARCAL1 SNORD118 SPP1 STAT4 SUOX TBC1D24

Diseases (34) :OMIM:182410 OMIM:615688 ORPHA:3175 ORPHA:2131 OMIM:104290 ORPHA:569 OMIM:602481 OMIM:614820 ORPHA:97 OMIM:141500 OMIM:175780 OMIM:614483 OMIM:607426 OMIM:612199 ORPHA:900 ORPHA:137675 OMIM:243700 ORPHA:2396 ORPHA:206448 ORPHA:206443 ORPHA:624 OMIM:616973 ORPHA:93552 ORPHA:136 ORPHA:1344 ORPHA:79254 OMIM:603553 OMIM:609634 ORPHA:209967 OMIM:612656 ORPHA:1830 OMIM:614561 OMIM:272300 ORPHA:352596

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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