Human Phenotype Ontology

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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
..Frontal release signs (HP:0000743)

Term ID:

743

Name:

Frontal release signs

Synonym:

Frontal release reflexes

Definition:

Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.

Comments:

Reference:

HP:0000743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal head movements (HP:0002457)

Abnormal posturing (HP:0002533)

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)

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:0000743	HP:0000743	Frontal release signs	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0000743	HP:0000743	Frontal release signs	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0000743	HP:0000743	Frontal release signs	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0000743	HP:0000743	Frontal release signs	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51
HP:0000743	HP:0000743	Frontal release signs	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.	51

Genes (4) :CHMP2B MAPT TBP WDR45

Diseases (5) :OMIM:600795 OMIM:601104 OMIM:607136 ORPHA:329284 OMIM:300894

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.