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:
Macular atrophy (HP:0007401)

Grandparent Node:
Scarring (HP:0100699)

Parent Node:
Macular scar (HP:0200056)

..Starting node
..Disciform macular scar (HP:0025094)

Term ID:

25094

Name:

Disciform macular scar

Synonym:

Definition:

A subretinal scar with a disc-like shape in the region of the macula.

Comments:

Reference:

HP:0025094

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025094	HP:0025094	Disciform macular scar	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.