Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Ectopic calcification (HP:0010766)

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

..Starting node
..Retinal calcification (HP:0007862)

Term ID:

7862

Name:

Retinal calcification

Synonym:

Definition:

Deposition of calcium salts in the retina.

Comments:

Reference:

HP:0007862

Genes and Diseases:

Child Nodes:

Sister Nodes:

Drusen (HP:0011510)

Retinal cotton wool spot (HP:0031606)

Retinal crystals (HP:0030507)

Retinal exudate (HP:0001147)

Retinal flecks (HP:0012045)

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:0007862	HP:0007862	Retinal calcification	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0007862	HP:0007862	Retinal calcification	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0007862	HP:0007862	Retinal calcification	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365

Genes (2) :FAM111A RB1

Diseases (3) :ORPHA:93325 OMIM:127000 OMIM:180200

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