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 cornea morphology (HP:0000481)

Parent Node:
Abnormal corneal endothelium morphology (HP:0011488)

..Starting node
..Reduced number of corneal endothelial cells (HP:0011491)

Term ID:

11491

Name:

Reduced number of corneal endothelial cells

Synonym:

Definition:

A reduction in the number of corneal endothelial cells.

Comments:

Reference:

HP:0011491

Genes and Diseases:

Child Nodes:

........

Polymorphous posterior corneal dystrophy (HP:0007915)

Sister Nodes:

Abnormal Descemet membrane morphology (HP:0011490)

Abnormal migration of corneal endothelium (HP:0011489)

Corneal keratic precipitates (HP:0025341)

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:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	3
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	33
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	4
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy		66
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy		241
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	47
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy		8
HP:0011491	HP:0011491	Reduced number of corneal endothelial cells	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	8
HP:0011491	HP:0007915	Polymorphous posterior corneal dystrophy	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4

Genes (8) :AGBL1 COL8A2 GRHL2 OVOL2 SLC4A11 TCF4 VSX1 ZEB1

Diseases (3) :ORPHA:98974 ORPHA:98973 OMIM:122000

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

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