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 of macular pigmentation (HP:0008002)

..Starting node
..Beaten bronze macular sheen (HP:0025147)

Term ID:

25147

Name:

Beaten bronze macular sheen

Synonym:

Beaten metal macular appearance; Beaten-bronze macular appearance; Beaten-bronze macular sheen

Definition:

A shiny appearance of the macula, which is often called a beaten bronze appearance.

Comments:

Reference:

HP:0025147

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of foveal pigmentation (HP:0030493)

Bull's eye maculopathy (HP:0011504)

Granular macular appearance (HP:0007793)

Macular hyperpigmentation (HP:0011509)

Macular hypopigmentation (HP:0007988)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025147	HP:0025147	Beaten bronze macular sheen	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16

Genes (1) :CFAP418

Diseases (1) :OMIM:614500

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