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
..Cicatricial lagophthalmos (HP:0030004)

Term ID:

30004

Name:

Cicatricial lagophthalmos

Synonym:

Eyelids stay open due to scarring; Inability to close the eyelids due to scarring

Definition:

A type of lagophthalmos that occurs following trauma or surgery.

Comments:

Reference:

HP:0030004

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nocturnal lagophthalmos (HP:0030002)

Paralytic lagophthalmos (HP:0030003)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030004	HP:0030004	Cicatricial lagophthalmos	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	69

Genes (1) :RIPK4

Diseases (1) :OMIM:263650

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