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:
Opacification of the corneal stroma (HP:0007759)

Parent Node:
Central opacification of the cornea (HP:0011493)

..Starting node
..Central posterior corneal opacity (HP:0008511)

Term ID:

8511

Name:

Central posterior corneal opacity

Synonym:

Definition:

Reduced transparency of the central posterior portion of the corneal stroma.

Comments:

Reference:

HP:0008511

Genes and Diseases:

Child Nodes:

Sister Nodes:

Band keratopathy (HP:0000585)

Central corneal dystrophy (HP:0007881)

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:0008511	HP:0008511	Central posterior corneal opacity	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional	58

Genes (1) :TGFBI

Diseases (1) :ORPHA:98964

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