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 eyelid morphology (HP:0000492)

Parent Node:
Lagophthalmos (HP:0030001)

..Starting node
..Nocturnal lagophthalmos (HP:0030002)

Term ID:

30002

Name:

Nocturnal lagophthalmos

Synonym:

Eyelids stay open at night; Inability to close the eyelids at night

Definition:

The inability to close the eyelids during sleep.

Comments:

Reference:

HP:0030002

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cicatricial lagophthalmos (HP:0030004)

Paralytic lagophthalmos (HP:0030003)

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:0030002	HP:0030002	Nocturnal lagophthalmos	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0030002	HP:0030002	Nocturnal lagophthalmos	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (2) :LMNA ZMPSTE24

Diseases (1) :ORPHA:740

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