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 with retained light perception (HP:0032286)

Term ID:

32286

Name:

Ultra-low vision with retained light perception

Synonym:

Definition:

Ultra-low vision but with retained ability to perceive the difference between light and dark.

Comments:

Reference:

HP:0032286

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:0032286	HP:0032286	Ultra-low vision with retained light perception	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	2
HP:0032286	HP:0032286	Ultra-low vision with retained light perception	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	15

Genes (2) :HMX1 NMNAT1

Diseases (2) :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.