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

..Starting node
..Ultra-low vision (HP:0032123)

Term ID:

32123

Name:

Ultra-low vision

Synonym:

Definition:

Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).

Comments:

Reference:

HP:0032123

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032123	HP:0032123	Ultra-low vision	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	4
HP:0032123	HP:0032123	Ultra-low vision	0	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17	64
HP:0032123	HP:0032123	Ultra-low vision	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	2
HP:0032123	HP:0032123	Ultra-low vision	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	15
HP:0032123	HP:0032285	Ultra-low vision with retained light projection	1	CL E G H
HP:0032123	HP:0032287	Ultra-low vision with no light perception	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	4
HP:0032123	HP:0032284	Ultra-low vision with retained motion projection	1	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17	64
HP:0032123	HP:0032286	Ultra-low vision with retained light perception	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	2
HP:0032123	HP:0032286	Ultra-low vision with retained light perception	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	15

Genes (4) :ATOH7 GDF6 HMX1 NMNAT1

Diseases (4) :OMIM:221900 OMIM:615360 OMIM:612109 OMIM:608553

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