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)

Grandparent Node:
Yellow/white lesions of the retina (HP:0030506)

Parent Node:
Yellow/white lesions of the macula (HP:0030500)

..Starting node
..Macular crystals (HP:0030501)

Term ID:

30501

Name:

Macular crystals

Synonym:

Definition:

Crystalline deposits in the macula.

Comments:

Reference:

HP:0030501

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular cotton wool spot (HP:0030497)

Macular drusen (HP:0030499)

Macular flecks (HP:0011507)

Placoid macular lesion (HP:0025110)

Small yellow foveal lesion with surrounding gray zone (HP:0031420)

Vitelliform-like macular lesions (HP:0007677)

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:0030501	HP:0030501	Macular crystals	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.