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 chorioretinal morphology (HP:0000532)

Parent Node:
Abnormality of chorioretinal pigmentation (HP:0007661)

..Starting node
..Chorioretinal hyperpigmentation (HP:0040031)

Term ID:

40031

Name:

Chorioretinal hyperpigmentation

Synonym:

Definition:

Comments:

Reference:

HP:0040031

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chorioretinal hypopigmentation (HP:0040030)

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:0040031	HP:0040031	Chorioretinal hyperpigmentation	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0040031	HP:0040031	Chorioretinal hyperpigmentation	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent	94

Genes (2) :MICOS13 OAT

Diseases (2) :OMIM:618329 ORPHA:414

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