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:
Subcapsular cataract (HP:0000523)

..Starting node
..Anterior subcapsular cataract (HP:0010923)

Term ID:

10923

Name:

Anterior subcapsular cataract

Synonym:

Definition:

A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.

Comments:

Reference:

HP:0010923

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior subcapsular cataract (HP:0007787)

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:0010923	HP:0010923	Anterior subcapsular cataract	0	CHMP4B CL E G H	128866	16171	OMIM:605387	Cataract 31, multiple types	.	4
HP:0010923	HP:0010923	Anterior subcapsular cataract	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0010923	HP:0010923	Anterior subcapsular cataract	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0010923	HP:0010923	Anterior subcapsular cataract	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177

Genes (4) :CHMP4B OPA3 PAX6 WT1

Diseases (3) :OMIM:605387 ORPHA:67036 OMIM:106210

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