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 eye physiology (HP:0012373)

Parent Node:
Abnormal eyelid physiology (HP:0031879)

..Starting node
..Abnormal eyelid movement (HP:0031785)

Term ID:

31785

Name:

Abnormal eyelid movement

Synonym:

Definition:

An abnormality in voluntary or involuntary eyelid movements or their control.

Comments:

Reference:

HP:0031785

Genes and Diseases:

Child Nodes:

........

Lid lag on downgaze (HP:0025605)

........

Eyelid fasciculation (HP:0030826)

........

Cogan lid twitch (HP:0031786)

Sister Nodes:

Eyelid laxity (HP:0031880)

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:0031785	HP:0031785	Abnormal eyelid movement	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0031785	HP:0031785	Abnormal eyelid movement	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0031785	HP:0031786	Cogan lid twitch	1	CL E G H
HP:0031785	HP:0030826	Eyelid fasciculation	1	CL E G H
HP:0031785	HP:0025605	Lid lag on downgaze	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0031785	HP:0025605	Lid lag on downgaze	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133

Genes (1) :CLCN1

Diseases (2) :OMIM:160800 OMIM:255700

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