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:
Abnormality of the lower limb (HP:0002814)

Grandparent Node:
Hyporeflexia (HP:0001265)

Parent Node:
Hyporeflexia of lower limbs (HP:0002600)

..Starting node
..Decreased patellar reflex (HP:0011808)

Term ID:

11808

Name:

Decreased patellar reflex

Synonym:

Decreased knee jerk reflex; Decreased patellar reflexes

Definition:

Decreased intensity of the patellar reflex (also known as the knee jerk reflex).

Comments:

Reference:

HP:0011808

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased Achilles reflex (HP:0009072)

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:0011808	HP:0011808	Decreased patellar reflex	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0011808	HP:0011808	Decreased patellar reflex	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0011808	HP:0011808	Decreased patellar reflex	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0011808	HP:0011808	Decreased patellar reflex	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0011808	HP:0011808	Decreased patellar reflex	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0011808	HP:0011808	Decreased patellar reflex	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0011808	HP:0011808	Decreased patellar reflex	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0011808	HP:0011808	Decreased patellar reflex	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269

Genes (8) :BICD2 DYNC1H1 FBLN5 HADHA HADHB LDB3 MYH14 MYH7

Diseases (7) :OMIM:615290 OMIM:158600 OMIM:608895 ORPHA:746 ORPHA:98912 OMIM:614369 ORPHA:437572

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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