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

..Starting node
..Macular dots (HP:0032028)

Term ID:

32028

Name:

Macular dots

Synonym:

Definition:

Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.

Comments:

Reference:

HP:0032028

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032028	HP:0032028	Macular dots	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	87

Genes (1) :ALDH3A2

Diseases (1) :OMIM:270200

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