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
..Abnormal posturing (HP:0002533)

Term ID:

2533

Name:

Abnormal posturing

Synonym:

Definition:

Involuntary flexion or extension of the arms and legs.

Comments:

Reference:

HP:0002533

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal head movements (HP:0002457)

Abnormal reflex (HP:0031826)

Astasia (HP:0020037)

Asterixis (HP:0012164)

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:0002533	HP:0002533	Abnormal posturing	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0002533	HP:0002533	Abnormal posturing	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0002533	HP:0002533	Abnormal posturing	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002533	HP:0002533	Abnormal posturing	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0002533	HP:0002533	Abnormal posturing	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0002533	HP:0002533	Abnormal posturing	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0002533	HP:0002533	Abnormal posturing	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47

Genes (7) :ABCD4 AOPEP EPG5 PANK2 PRNP TIMM8A TOR1A

Diseases (7) :OMIM:614857 OMIM:619565 OMIM:242840 ORPHA:216866 ORPHA:157941 OMIM:304700 OMIM:128100

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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