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:
Drusen (HP:0011510)

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

..Starting node
..Macular drusen (HP:0030499)

Term ID:

30499

Name:

Macular drusen

Synonym:

Lipid accumulation in macula

Definition:

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.

Comments:

Reference:

HP:0030499

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular cotton wool spot (HP:0030497)

Macular crystals (HP:0030501)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030499	HP:0030499	Macular drusen	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0030499	HP:0030499	Macular drusen	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	86
HP:0030499	HP:0030499	Macular drusen	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0030499	HP:0030499	Macular drusen	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0030499	HP:0030499	Macular drusen	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	57
HP:0030499	HP:0030499	Macular drusen	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040280 - Obligate	54
HP:0030499	HP:0030499	Macular drusen	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262

Genes (7) :APOE CFH CFHR1 CFHR3 CFI EFEMP1 HMCN1

Diseases (2) :OMIM:603075 ORPHA:75376

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

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