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 Achilles reflex (HP:0009072)

Term ID:

9072

Name:

Decreased Achilles reflex

Synonym:

Hyporeflexia at ankle joints

Definition:

Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.

Comments:

Reference:

HP:0009072

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased patellar reflex (HP:0011808)

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:0009072	HP:0009072	Decreased Achilles reflex	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040283 - Occasional
HP:0009072	HP:0009072	Decreased Achilles reflex	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0009072	HP:0009072	Decreased Achilles reflex	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0009072	HP:0009072	Decreased Achilles reflex	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0009072	HP:0009072	Decreased Achilles reflex	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0009072	HP:0009072	Decreased Achilles reflex	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0009072	HP:0009072	Decreased Achilles reflex	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0009072	HP:0009072	Decreased Achilles reflex	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare	286
HP:0009072	HP:0009072	Decreased Achilles reflex	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269

Genes (9) :ADSS1 BICD2 CRYAB DYSF FBXO38 GDAP1 IBA57 LDB3 MYH7

Diseases (9) :ORPHA:482601 OMIM:615290 OMIM:608810 OMIM:254130 OMIM:615575 ORPHA:99948 ORPHA:468661 ORPHA:98912 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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