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 fundus autofluorescence imaging (HP:0030602)

Parent Node:
Hypoautofluorescent retinal lesion (HP:0025159)

..Starting node
..Hypoautofluorescent macular lesion (HP:0030632)

Term ID:

30632

Name:

Hypoautofluorescent macular lesion

Synonym:

Hypo-autofluorescent macular lesion

Definition:

Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.

Comments:

Reference:

HP:0030632

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030632	HP:0030632	Hypoautofluorescent macular lesion	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0030632	HP:0030632	Hypoautofluorescent macular lesion	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0030632	HP:0030632	Hypoautofluorescent macular lesion	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0030632	HP:0030632	Hypoautofluorescent macular lesion	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200

Genes (4) :CFH CFI EFEMP1 RPGR

Diseases (2) :ORPHA:75376 OMIM:304020

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