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:
Nyctalopia (HP:0000662)

..Starting node
..Adult-onset night blindness (HP:0007830)

Term ID:

7830

Name:

Adult-onset night blindness

Synonym:

Adult-onset night blindness

Definition:

Inability to see well at night or in poor light with onset in adulthood.

Comments:

Reference:

HP:0007830

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital stationary night blindness (HP:0007642)

Progressive night blindness (HP:0007675)

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:0007830	HP:0007830	Adult-onset night blindness	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.	20
HP:0007830	HP:0007830	Adult-onset night blindness	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.	159
HP:0007830	HP:0007830	Adult-onset night blindness	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.	38

Genes (3) :C1QTNF5 PRPH2 ROM1

Diseases (2) :OMIM:605670 OMIM:608133

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