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:
Abnormality of the orbital region (HP:0000315)

Parent Node:
Coloboma (HP:0000589)

..Starting node
..Ciliary body coloboma (HP:0020006)

Term ID:

20006

Name:

Ciliary body coloboma

Synonym:

Definition:

A coloboma of the ciliary body.

Comments:

Reference:

HP:0020006

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chorioretinal coloboma (HP:0000567)

Iris coloboma (HP:0000612)

Lens coloboma (HP:0100719)

Optic disc coloboma (HP:0000588)

Retinal coloboma (HP:0000480)

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:0020006	HP:0020006	Ciliary body coloboma	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0020006	HP:0020006	Ciliary body coloboma	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23

Genes (2) :BCOR NAA10

Diseases (1) :OMIM:309800

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