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:
Abnormal retinal morphology (HP:0000479)

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

..Starting node
..Retinal flecks (HP:0012045)

Term ID:

12045

Name:

Retinal flecks

Synonym:

Definition:

Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.

Comments:

Reference:

HP:0012045

Genes and Diseases:

Child Nodes:

........

Fundus albipunctatus (HP:0030642)

Sister Nodes:

Drusen (HP:0011510)

Retinal calcification (HP:0007862)

Retinal cotton wool spot (HP:0031606)

Retinal crystals (HP:0030507)

Retinal exudate (HP:0001147)

Vitelliform-like retinal lesions (HP:0030643)

Yellow/white lesions of the macula (HP:0030500)

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:0012045	HP:0012045	Retinal flecks	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0012045	HP:0012045	Retinal flecks	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0012045	HP:0012045	Retinal flecks	0	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.	110
HP:0012045	HP:0012045	Retinal flecks	0	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0012045	HP:0012045	Retinal flecks	0	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0012045	HP:0012045	Retinal flecks	0	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0012045	HP:0012045	Retinal flecks	0	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47
HP:0012045	HP:0012045	Retinal flecks	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0012045	HP:0030642	Fundus albipunctatus	1	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.	159
HP:0012045	HP:0030642	Fundus albipunctatus	1	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.	32
HP:0012045	HP:0030642	Fundus albipunctatus	1	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.	107
HP:0012045	HP:0030642	Fundus albipunctatus	1	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.	47

Genes (7) :BEST1 PROM1 PRPH2 RDH5 RHO RLBP1 ZFYVE26

Diseases (5) :OMIM:611809 OMIM:613194 OMIM:603786 OMIM:136880 ORPHA:100996

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