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:
Punctate opacification of the cornea (HP:0007856)

..Starting node
..Crystalline corneal dystrophy (HP:0007760)

Term ID:

7760

Name:

Crystalline corneal dystrophy

Synonym:

Definition:

Comments:

Reference:

HP:0007760

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007760	HP:0007760	Crystalline corneal dystrophy	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0007760	HP:0007760	Crystalline corneal dystrophy	0	UBIAD1 CL E G H	29914	30791	OMIM:121800	Corneal dystrophy, crystalline, of schnyder	.	69

Genes (2) :CYP4V2 UBIAD1

Diseases (2) :ORPHA:41751 OMIM:121800

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