Human Phenotype Ontology

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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:
Abnormal corneal endothelium morphology (HP:0011488)

..Starting node
..Abnormal Descemet membrane morphology (HP:0011490)

Term ID:

11490

Name:

Abnormal Descemet membrane morphology

Synonym:

Abnormality of Descemet's membrane

Definition:

Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.

Comments:

Reference:

HP:0011490

Genes and Diseases:

Child Nodes:

........

Corneal guttata (HP:0012038)

........

Descemet Membrane Folds (HP:0012039)

........

Thinning of Descemet membrane (HP:0031159)

Sister Nodes:

Abnormal migration of corneal endothelium (HP:0011489)

Corneal keratic precipitates (HP:0025341)

Reduced number of corneal endothelial cells (HP:0011491)

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:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8		3
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1		3
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	3
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	CYP1B1 CL E G H	1545	2597	OMIM:617315	ANTERIOR SEGMENT DYSGENESIS 6; ASGD6		101
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly		101
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly		63
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly		23
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	33
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	4
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly		194
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly		51
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040281 - Very frequent	66
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4		66
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	SLC4A11 CL E G H	83959	16438	OMIM:217700	CORNEAL ENDOTHELIAL DYSTROPHY; CHED		66
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy		66
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy		241
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	47
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3		8
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy		8
HP:0011490	HP:0011490	Abnormal Descemet membrane morphology	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040281 - Very frequent	8
HP:0011490	HP:0012038	Corneal guttata	1	AGBL1 CL E G H	123624	26504	OMIM:615523	Corneal dystrophy, fuchs endothelial, 8		3
HP:0011490	HP:0012039	Descemet Membrane Folds	1	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.	3
HP:0011490	HP:0012038	Corneal guttata	1	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.	3
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	101
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	63
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	23
HP:0011490	HP:0012038	Corneal guttata	1	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	194
HP:0011490	HP:0031159	Thinning of Descemet membrane	1	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	51
HP:0011490	HP:0012038	Corneal guttata	1	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4		66
HP:0011490	HP:0012038	Corneal guttata	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0011490	HP:0012038	Corneal guttata	1	ZEB1 CL E G H	6935	11642	OMIM:609141	Corneal dystrophy, posterior polymorphous, 3	.	8

Genes (14) :AGBL1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 KCNJ13 OVOL2 PAX6 PITX2 SLC4A11 TCF4 VSX1 ZEB1

Diseases (13) :OMIM:615523 ORPHA:98974 OMIM:136800 ORPHA:98973 OMIM:617315 ORPHA:708 OMIM:193230 OMIM:122000 ORPHA:293603 OMIM:613268 OMIM:217700 OMIM:613270 OMIM:609141

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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