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 on macular OCT (HP:0030612)

Parent Node:
Abnormal foveal morphology on macular OCT (HP:0030613)

..Starting node
..Abnormal OCT-measured foveal thickness (HP:0030617)

Term ID:

30617

Name:

Abnormal OCT-measured foveal thickness

Synonym:

Definition:

Comments:

Reference:

HP:0030617

Genes and Diseases:

Child Nodes:

........

Increased OCT-measured foveal thickness (HP:0030618)

........

Reduced OCT-measured foveal thickness (HP:0030619)

Sister Nodes:

Abnormal foveal pit on macular OCT (HP:0030622)

Foveal hyporeflective spaces on macular OCT (HP:0030627)

Foveal inner retinal layer loss on macular OCT (HP:0030621)

Foveal photoreceptor layer loss on macular OCT (HP:0030614)

Foveal photoreceptor outer segment loss on macular OCT (HP:0030615)

Foveal retinal pigment epithelial loss on macular OCT (HP:0030616)

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:0030617	HP:0030617	Abnormal OCT-measured foveal thickness	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030617	HP:0030617	Abnormal OCT-measured foveal thickness	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030617	HP:0030619	Reduced OCT-measured foveal thickness	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030617	HP:0030618	Increased OCT-measured foveal thickness	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent	47

Genes (2) :CLEC3B RLBP1

Diseases (2) :OMIM:619977 ORPHA:85128

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