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 retinal morphology (HP:0000479)

Parent Node:
Abnormal foveal morphology (HP:0000493)

Parent Node:
Retinoschisis (HP:0030502)

..Starting node
..Foveoschisis (HP:0012152)

Term ID:

12152

Name:

Foveoschisis

Synonym:

Retinoschisis involving the fovea

Definition:

Splitting of the retinal layers in the macula.

Comments:

Reference:

HP:0012152

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:0012152	HP:0012152	Foveoschisis	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0012152	HP:0012152	Foveoschisis	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94

Genes (2) :MFRP OAT

Diseases (2) :OMIM:611040 OMIM:258870

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