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 choroid morphology (HP:0000610)

Grandparent Node:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Abnormal chorioretinal morphology (HP:0000532)

..Starting node
..Chorioretinal lacunae (HP:0007858)

Term ID:

7858

Name:

Chorioretinal lacunae

Synonym:

Lacunar retinal depigmentation

Definition:

Punched out lesions in the pigmented layer of the retina.

Comments:

Reference:

HP:0007858

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of chorioretinal pigmentation (HP:0007661)

Central serous chorioretinopathy (HP:0025567)

Chorioretinal coloboma (HP:0000567)

Chorioretinal degeneration (HP:0200065)

Chorioretinal dysplasia (HP:0007731)

Chorioretinal dystrophy (HP:0001135)

Chorioretinitis (HP:0012424)

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:0007858	HP:0007858	Chorioretinal lacunae	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007858	HP:0007858	Chorioretinal lacunae	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional	46

Genes (2) :DHX16 KIF11

Diseases (2) :OMIM:618733 OMIM:152950

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