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 anterior eye segment morphology (HP:0004328)

Parent Node:
Abnormal cornea morphology (HP:0000481)

..Starting node
..Corneal perforation (HP:0100583)

Term ID:

100583

Name:

Corneal perforation

Synonym:

Iridocele

Definition:

A rupture of the cornea through which a portion of the iris protrudes.

Comments:

Reference:

HP:0100583

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal corneal endothelium morphology (HP:0011488)

Abnormal corneal epithelium morphology (HP:0011495)

Abnormal corneal limbus morphology (HP:0025348)

Abnormal corneal stroma morphology (HP:0011492)

Abnormal line of Schwalbe morphology (HP:0008048)

Abnormality of corneal shape (HP:0040004)

Abnormality of corneal size (HP:0001120)

Abnormality of corneal thickness (HP:0011486)

Abnormality of the curvature of the cornea (HP:0100691)

Cornea verticillata (HP:0500008)

Corneal degeneration (HP:0007705)

Corneal dystrophy (HP:0001131)

Corneal neovascularization (HP:0011496)

Corneal opacity (HP:0007957)

Decreased corneal reflex (HP:0008000)

Decreased corneal sensation (HP:0012155)

Limbal dermoid (HP:0001140)

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:0100583	HP:0100583	Corneal perforation	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0100583	HP:0100583	Corneal perforation	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0100583	HP:0100583	Corneal perforation	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145

Genes (3) :FGF10 FGFR2 FGFR3

Diseases (1) :OMIM:149730

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