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 cornea morphology (HP:0000481)

Parent Node:
Corneal dystrophy (HP:0001131)

..Starting node
..Punctate corneal dystrophy (HP:0007809)

Term ID:

7809

Name:

Punctate corneal dystrophy

Synonym:

Definition:

Comments:

Reference:

HP:0007809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Band-shaped corneal dystrophy (HP:0007709)

Granular corneal dystrophy (HP:0007802)

Lattice corneal dystrophy (HP:0001149)

Marginal corneal dystrophy (HP:0007880)

Mosaic corneal dystrophy (HP:0007836)

obsolete Congenital corneal dystrophy (HP:0008005)

Speckled corneal dystrophy (HP:0007962)

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:0007809	HP:0007809	Punctate 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.