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 corneal stroma morphology (HP:0011492)

Grandparent Node:
Corneal opacity (HP:0007957)

Parent Node:
Opacification of the corneal stroma (HP:0007759)

..Starting node
..Corneal crystals (HP:0000531)

Term ID:

531

Name:

Corneal crystals

Synonym:

Corneal deposits

Definition:

Comments:

Reference:

HP:0000531

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central opacification of the cornea (HP:0011493)

Generalized opacification of the cornea (HP:0011494)

Peripheral opacification of the cornea (HP:0008011)

Punctate opacification of the cornea (HP:0007856)

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:0000531	HP:0000531	Corneal crystals	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040281 - Very frequent	129
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic	.	178
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0000531	HP:0000531	Corneal crystals	0	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent	178
HP:0000531	HP:0000531	Corneal crystals	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0000531	HP:0000531	Corneal crystals	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58

Genes (3) :CHST6 CTNS TGFBI

Diseases (9) :ORPHA:98969 OMIM:219750 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:411641 ORPHA:98962 ORPHA:98963

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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