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:
Cataract (HP:0000518)

Parent Node:
Zonular cataract (HP:0010920)

..Starting node
..Sutural cataract (HP:0010695)

Term ID:

10695

Name:

Sutural cataract

Synonym:

Definition:

A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.

Comments:

Reference:

HP:0010695

Genes and Diseases:

Child Nodes:

........

Posterior Y-sutural cataract (HP:0008031)

Sister Nodes:

Coralliform cataract (HP:0010921)

Coronary cataract (HP:0025559)

Cortical cataract (HP:0100019)

Lamellar cataract (HP:0007971)

Nuclear cataract (HP:0100018)

Punctate cataract (HP:0007648)

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:0010695	HP:0010695	Sutural cataract	0	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities		9
HP:0010695	HP:0010695	Sutural cataract	0	CRYBB2 CL E G H	1415	2398	OMIM:601547	Cataract 3, multiple types		13
HP:0010695	HP:0010695	Sutural cataract	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010695	HP:0010695	Sutural cataract	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010695	HP:0010695	Sutural cataract	0	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes	.	88
HP:0010695	HP:0010695	Sutural cataract	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome		88
HP:0010695	HP:0010695	Sutural cataract	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia		2
HP:0010695	HP:0010695	Sutural cataract	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0010695	HP:0008031	Posterior Y-sutural cataract	1	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities	.	9
HP:0010695	HP:0008031	Posterior Y-sutural cataract	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0010695	HP:0008031	Posterior Y-sutural cataract	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0010695	HP:0008031	Posterior Y-sutural cataract	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2

Genes (6) :CRYBA1 CRYBB2 GJA5 GJA8 NHS SEC23A

Diseases (7) :OMIM:600881 OMIM:601547 OMIM:612474 OMIM:302200 OMIM:302350 ORPHA:50814 OMIM:607812

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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