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 nervous system physiology (HP:0012638)

Parent Node:
Abnormality of movement (HP:0100022)

..Starting node
..Asterixis (HP:0012164)

Term ID:

12164

Name:

Asterixis

Synonym:

Definition:

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.

Comments:

Reference:

HP:0012164

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal head movements (HP:0002457)

Abnormal posturing (HP:0002533)

Abnormal reflex (HP:0031826)

Astasia (HP:0020037)

Bimanual synkinesia (HP:0001335)

Cerebral palsy (HP:0100021)

Diminished movement (HP:0002374)

Dyskinesia (HP:0100660)

Dystonia (HP:0001332)

Frontal release signs (HP:0000743)

Gait disturbance (HP:0001288)

Hyperactivity (HP:0000752)

Hyperkinetic movements (HP:0002487)

Involuntary movements (HP:0004305)

Muscle fibrillation (HP:0010546)

Myokymia (HP:0002411)

Postural instability (HP:0002172)

Primitive reflex (HP:0002476)

Stooped posture (HP:0025403)

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:0012164	HP:0012164	Asterixis	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0012164	HP:0012164	Asterixis	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0012164	HP:0012164	Asterixis	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0012164	HP:0012164	Asterixis	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0012164	HP:0012164	Asterixis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82

Genes (5) :ABCB11 ABCB4 ATP8B1 NR1H4 SLC25A13

Diseases (2) :ORPHA:69665 ORPHA:247585

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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