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:
Abnormal corneal stroma morphology (HP:0011492)

Grandparent Node:
Corneal opacity (HP:0007957)

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

..Starting node
..Punctate opacification of the cornea (HP:0007856)

Term ID:

7856

Name:

Punctate opacification of the cornea

Synonym:

Punctate corneal opacities

Definition:

Punctate opacification (reduced transparency) of the corneal stroma.

Comments:

Reference:

HP:0007856

Genes and Diseases:

Child Nodes:

........

Crystalline corneal dystrophy (HP:0007760)

Sister Nodes:

Central opacification of the cornea (HP:0011493)

Corneal crystals (HP:0000531)

Generalized opacification of the cornea (HP:0011494)

Peripheral opacification of the cornea (HP:0008011)

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:0007856	HP:0007856	Punctate opacification of the cornea	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040281 - Very frequent	129
HP:0007856	HP:0007856	Punctate opacification of the cornea	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0007856	HP:0007856	Punctate opacification of the cornea	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0007856	HP:0007856	Punctate opacification of the cornea	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.	22
HP:0007856	HP:0007856	Punctate opacification of the cornea	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0007856	HP:0007856	Punctate opacification of the cornea	0	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder		69
HP:0007856	HP:0007760	Crystalline corneal dystrophy	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0007856	HP:0007760	Crystalline corneal dystrophy	1	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder	.	69

Genes (5) :CHST6 CYP4V2 KRT12 PSMB8 UBIAD1

Diseases (6) :ORPHA:98969 OMIM:217800 ORPHA:41751 OMIM:122100 OMIM:256040 OMIM:121800

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