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 central motor function (HP:0011442)

Grandparent Node:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Apraxia (HP:0002186)

..Starting node
..Limb apraxia (HP:0030217)

Term ID:

30217

Name:

Limb apraxia

Synonym:

Definition:

Difficulty in performing the correct execution of limbs movements in absence of motor impairment.

Comments:

Reference:

HP:0030217

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eyelid apraxia (HP:0000658)

Gait apraxia (HP:0010521)

Oculomotor apraxia (HP:0000657)

Oromotor apraxia (HP:0007301)

Speech apraxia (HP:0011098)

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:0030217	HP:0030217	Limb apraxia	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040281 - Very frequent	140
HP:0030217	HP:0030217	Limb apraxia	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional	140
HP:0030217	HP:0030217	Limb apraxia	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040282 - Frequent	950

Genes (2) :MAPT MECP2

Diseases (3) :ORPHA:240103 ORPHA:240112 ORPHA:778

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