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 optical coherence tomography (HP:0030603)

Parent Node:
Abnormal retinal morphology on macular OCT (HP:0030612)

..Starting node
..Abnormal OCT-measured macular thickness (HP:0030606)

Term ID:

30606

Name:

Abnormal OCT-measured macular thickness

Synonym:

Definition:

Comments:

Reference:

HP:0030606

Genes and Diseases:

Child Nodes:

........

Reduced OCT-measured macular thickness (HP:0030607)

........

Increased OCT-measured macular thickness (HP:0030608)

Sister Nodes:

Abnormal foveal morphology on macular OCT (HP:0030613)

Hyporeflective spaces on macular OCT (HP:0030625)

Inner retinal layer loss on macular OCT (HP:0030620)

Photoreceptor layer loss on macular OCT (HP:0030609)

Photoreceptor outer segment loss on macular OCT (HP:0030610)

Retinal pigment epithelial loss on macular OCT (HP:0030611)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030606	HP:0030606	Abnormal OCT-measured macular thickness	0	CL E G H
HP:0030606	HP:0030608	Increased OCT-measured macular thickness	1	CL E G H
HP:0030606	HP:0030607	Reduced OCT-measured macular thickness	1	CL E G H

Genes (0) :

Diseases (0) :

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