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

Parent Node:
Decreased corneal thickness (HP:0100689)

Parent Node:
Increased corneal curvature (HP:0100692)

..Starting node
..Keratoglobus (HP:0001119)

Term ID:

1119

Name:

Keratoglobus

Synonym:

Definition:

Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.

Comments:

Reference:

HP:0001119

Genes and Diseases:

Child Nodes:

Sister Nodes:

Keratoconus (HP:0000563)

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:0001119	HP:0001119	Keratoglobus	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0001119	HP:0001119	Keratoglobus	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0001119	HP:0001119	Keratoglobus	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0001119	HP:0001119	Keratoglobus	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001119	HP:0001119	Keratoglobus	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0001119	HP:0001119	Keratoglobus	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397

Genes (4) :PIEZO2 PRDM5 SLC2A10 ZNF469

Diseases (5) :OMIM:108145 ORPHA:90354 OMIM:614170 ORPHA:3342 OMIM:229200

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