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

Term ID:

30620

Name:

Inner retinal layer loss on macular OCT

Synonym:

Definition:

Comments:

Reference:

HP:0030620

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal foveal morphology on macular OCT (HP:0030613)

Abnormal OCT-measured macular thickness (HP:0030606)

Hyporeflective spaces on macular OCT (HP:0030625)

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:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0030620	HP:0030620	Inner retinal layer loss on macular OCT	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200

Genes (7) :ATF6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR

Diseases (1) :ORPHA:49382

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