Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 cornea morphology (HP:0000481)

Parent Node:
Abnormality of corneal thickness (HP:0011486)

..Starting node
..Increased corneal thickness (HP:0011487)

Term ID:

11487

Name:

Increased corneal thickness

Synonym:

Definition:

A increased anteroposterior thickness of the cornea.

Comments:

Reference:

HP:0011487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased corneal thickness (HP:0100689)

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:0011487	HP:0011487	Increased corneal thickness	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal	.	31
HP:0011487	HP:0011487	Increased corneal thickness	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0011487	HP:0011487	Increased corneal thickness	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0011487	HP:0011487	Increased corneal thickness	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0011487	HP:0011487	Increased corneal thickness	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040281 - Very frequent	66
HP:0011487	HP:0011487	Increased corneal thickness	0	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66

Genes (5) :DCN FGF10 FGFR2 FGFR3 SLC4A11

Diseases (4) :OMIM:610048 ORPHA:2363 ORPHA:293603 OMIM:217700

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