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:
Generalized opacification of the cornea (HP:0011494)

..Starting node
..Nodular corneal dystrophy (HP:0007827)

Term ID:

7827

Name:

Nodular corneal dystrophy

Synonym:

Definition:

Comments:

Reference:

HP:0007827

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:0007827	HP:0007827	Nodular corneal dystrophy	0	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy	.	58

Genes (1) :TGFBI

Diseases (1) :OMIM:121900

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