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:
Yellow/white lesions of the retina (HP:0030506)

Parent Node:
Congenital stationary night blindness with abnormal fundus (HP:0030639)

Parent Node:
Retinal flecks (HP:0012045)

..Starting node
..Fundus albipunctatus (HP:0030642)

Term ID:

30642

Name:

Fundus albipunctatus

Synonym:

Definition:

Comments:

Reference:

HP:0030642

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030642	HP:0030642	Fundus albipunctatus	0	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0030642	HP:0030642	Fundus albipunctatus	0	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0030642	HP:0030642	Fundus albipunctatus	0	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0030642	HP:0030642	Fundus albipunctatus	0	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47

Genes (4) :PRPH2 RDH5 RHO RLBP1

Diseases (1) :OMIM:136880

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