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:
Hyperreflexia (HP:0001347)

Parent Node:
Lower limb hyperreflexia (HP:0002395)

..Starting node
..Hyperactive patellar reflex (HP:0007083)

Term ID:

7083

Name:

Hyperactive patellar reflex

Synonym:

Brisk knee jerk; Hyperreflexia in knees; Overactive knee reflex

Definition:

Comments:

Reference:

HP:0007083

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007083	HP:0007083	Hyperactive patellar reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61	HP:0040282 - Frequent	1
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0007083	HP:0007083	Hyperactive patellar reflex	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129

Genes (15) :ALDH18A1 ARL6IP1 ATP13A2 C19ORF12 COX4I1 HARS1 HEXB IBA57 NONO PGM3 SACS SDHA SDHAF1 SDHB SDHD

Diseases (13) :ORPHA:447757 ORPHA:401780 OMIM:615685 ORPHA:306674 ORPHA:320370 OMIM:619060 OMIM:616625 ORPHA:309155 ORPHA:468661 ORPHA:466791 ORPHA:443811 OMIM:270550 ORPHA:3208

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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