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
..Hyporeflective spaces on macular OCT (HP:0030625)

Term ID:

30625

Name:

Hyporeflective spaces on macular OCT

Synonym:

Definition:

Comments:

Reference:

HP:0030625

Genes and Diseases:

Child Nodes:

........

Intraretinal hyporeflective spaces on macular OCT (HP:0030623)

........

Subretinal hyporeflective spaces on macular OCT (HP:0030624)

Sister Nodes:

Abnormal foveal morphology on macular OCT (HP:0030613)

Abnormal OCT-measured macular thickness (HP:0030606)

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	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:0030625	HP:0030625	Hyporeflective spaces on macular OCT	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0030625	HP:0030625	Hyporeflective spaces on macular OCT	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95
HP:0030625	HP:0030623	Intraretinal hyporeflective spaces on macular OCT	1	CL E G H
HP:0030625	HP:0030624	Subretinal hyporeflective spaces on macular OCT	1	CL E G H

Genes (2) :SELENOI TIMP3

Diseases (2) :ORPHA:506353 ORPHA:59181

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