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)

Grandparent Node:
Coloboma (HP:0000589)

Parent Node:
Retinal coloboma (HP:0000480)

..Starting node
..Inferior retinal coloboma (HP:0031614)

Term ID:

31614

Name:

Inferior retinal coloboma

Synonym:

Definition:

A notch or cleft of the lower part of the retina.

Comments:

Reference:

HP:0031614

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular coloboma (HP:0001116)

obsolete Bilateral retinal coloboma (HP:0007808)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031614	HP:0031614	Inferior retinal coloboma	0	CL E G H

Genes (0) :

Diseases (0) :

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