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 motion projection (HP:0032284)

Term ID:

32284

Name:

Ultra-low vision with retained motion projection

Synonym:

Definition:

Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).

Comments:

Reference:

HP:0032284

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:0032284	HP:0032284	Ultra-low vision with retained motion projection	0	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17	64

Genes (1) :GDF6

Diseases (1) :OMIM:615360

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