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:
Abnormality of vision (HP:0000504)

Parent Node:
Visual impairment (HP:0000505)

..Starting node
..Moderately reduced visual acuity (HP:0030515)

Term ID:

30515

Name:

Moderately reduced visual acuity

Synonym:

Moderate reduction in visual acuity; Moderate vision loss; Moderate visual impairment; Moderate visual loss

Definition:

Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).

Comments:

Reference:

HP:0030515

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blindness (HP:0000618)

Cerebral visual impairment (HP:0100704)

obsolete Congenital visual impairment (HP:0007758)

Severely reduced visual acuity (HP:0001141)

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:0030515	HP:0030515	Moderately reduced visual acuity	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	94
HP:0030515	HP:0030515	Moderately reduced visual acuity	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.	4
HP:0030515	HP:0030515	Moderately reduced visual acuity	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0030515	HP:0030515	Moderately reduced visual acuity	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare	125
HP:0030515	HP:0030515	Moderately reduced visual acuity	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	214
HP:0030515	HP:0030515	Moderately reduced visual acuity	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3

Genes (6) :DNM1L IMPG1 IMPG2 LRP5 OPA1 RAC1

Diseases (5) :ORPHA:98673 OMIM:616151 OMIM:616152 ORPHA:2788 ORPHA:500159

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

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