Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 reflex (HP:0031826)

Parent Node:
Hyperreflexia (HP:0001347)

..Starting node
..Generalized hyperreflexia (HP:0007034)

Term ID:

7034

Name:

Generalized hyperreflexia

Synonym:

Generalised hyperreflexia

Definition:

Comments:

Reference:

HP:0007034

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brisk reflexes (HP:0001348)

Clonus (HP:0002169)

Hyperactive deep tendon reflexes (HP:0006801)

Hyperreflexia in upper limbs (HP:0007350)

Lower limb hyperreflexia (HP:0002395)

Proximal hyperreflexia (HP:0007054)

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:0007034	HP:0007034	Generalized hyperreflexia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0007034	HP:0007034	Generalized hyperreflexia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007034	HP:0007034	Generalized hyperreflexia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040283 - Occasional	4
HP:0007034	HP:0007034	Generalized hyperreflexia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007034	HP:0007034	Generalized hyperreflexia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007034	HP:0007034	Generalized hyperreflexia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007034	HP:0007034	Generalized hyperreflexia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007034	HP:0007034	Generalized hyperreflexia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007034	HP:0007034	Generalized hyperreflexia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007034	HP:0007034	Generalized hyperreflexia	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0007034	HP:0007034	Generalized hyperreflexia	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0007034	HP:0007034	Generalized hyperreflexia	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0007034	HP:0007034	Generalized hyperreflexia	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent	171
HP:0007034	HP:0007034	Generalized hyperreflexia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (14) :ABCD1 CARS1 EEF2 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A SLC25A12 SLC2A1 SLC52A3 SPG7 TARS1

Diseases (7) :ORPHA:139396 ORPHA:33364 ORPHA:101112 OMIM:612949 ORPHA:71277 OMIM:211500 ORPHA:35689

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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