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 iris pigmentation (HP:0008034)

..Starting node
..Stellate iris (HP:0012775)

Term ID:

12775

Name:

Stellate iris

Synonym:

Definition:

A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.

Comments:

Reference:

HP:0012775

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetry of iris pigmentation (HP:0200064)

Blue irides (HP:0000635)

Brushfield spots (HP:0001088)

Iris hypopigmentation (HP:0007730)

Iris pigment dispersion (HP:0012634)

Iris transillumination defect (HP:0012805)

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:0012775	HP:0012775	Stellate iris	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0012775	HP:0012775	Stellate iris	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37

Genes (2) :PRR12 SNRPN

Diseases (2) :OMIM:619539 ORPHA:177907

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