Human Phenotype Ontology

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 emotion/affect behavior (HP:0100851)

Parent Node:
Diminished motivation (HP:0000745)

..Starting node
..Inertia (HP:0030216)

Term ID:

30216

Name:

Inertia

Synonym:

Definition:

Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).

Comments:

Reference:

HP:0030216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abulia (HP:0012671)

Akinetic mutism (HP:0012672)

Apathy (HP:0000741)

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:0030216	HP:0030216	Inertia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0030216	HP:0030216	Inertia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040281 - Very frequent	30
HP:0030216	HP:0030216	Inertia	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0030216	HP:0030216	Inertia	0	PRKAR1B CL E G H	5575	9390	ORPHA:412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	HP:0040282 - Frequent	2

Genes (4) :ATXN1 FMR1 PANK2 PRKAR1B

Diseases (4) :ORPHA:98755 ORPHA:93256 ORPHA:216873 ORPHA:412066

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