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:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Apraxia (HP:0002186)

..Starting node
..Eyelid apraxia (HP:0000658)

Term ID:

658

Name:

Eyelid apraxia

Synonym:

Difficulty opening the eyelids

Definition:

Comments:

Reference:

HP:0000658

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gait apraxia (HP:0010521)

Limb apraxia (HP:0030217)

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:0000658	HP:0000658	Eyelid apraxia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0000658	HP:0000658	Eyelid apraxia	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0000658	HP:0000658	Eyelid apraxia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000658	HP:0000658	Eyelid apraxia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0000658	HP:0000658	Eyelid apraxia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000658	HP:0000658	Eyelid apraxia	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9

Genes (5) :ATP13A2 MAPT PANK2 PLA2G6 SYNJ1

Diseases (6) :ORPHA:306674 OMIM:601104 OMIM:234200 ORPHA:199351 OMIM:612953 OMIM:615530

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