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 macular morphology (HP:0001103)

Parent Node:
Abnormality morphology of the macular vasculature (HP:0030495)

..Starting node
..Macular microaneurysm/hemorrhage (HP:0030494)

Term ID:

30494

Name:

Macular microaneurysm/hemorrhage

Synonym:

Definition:

Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).

Comments:

Reference:

HP:0030494

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular exudate (HP:0030496)

Macular telangiectasia (HP:0030503)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030494	HP:0030494	Macular microaneurysm/hemorrhage	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.