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 iris morphology (HP:0000525)

Parent Node:
Abnormal pupil morphology (HP:0000615)

..Starting node
..Polycoria (HP:0011500)

Term ID:

11500

Name:

Polycoria

Synonym:

Multiple pupils

Definition:

Multiple pupils.

Comments:

Reference:

HP:0011500

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pupil shape (HP:0025309)

Anisocoria (HP:0009916)

Ectopia pupillae (HP:0009918)

Leukocoria (HP:0000555)

Microcoria (HP:0025492)

Persistent pupillary membrane (HP:0009917)

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:0011500	HP:0011500	Polycoria	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare	193
HP:0011500	HP:0011500	Polycoria	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51

Genes (2) :COL4A1 PITX2

Diseases (2) :OMIM:175780 OMIM:180500

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