Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Hyperautofluorescent retinal lesion (HP:0025158)

..Starting node
..Hyperautofluorescent macular lesion (HP:0030631)

Term ID:

30631

Name:

Hyperautofluorescent macular lesion

Synonym:

Definition:

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

Comments:

Reference:

HP:0030631

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:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	24
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	124
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	159
HP:0030631	HP:0030631	Hyperautofluorescent macular lesion	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22

Genes (13) :ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI EFEMP1 GUCA1A GUCY2D POMGNT1 PRPH2 TLCD3B

Diseases (7) :OMIM:209900 OMIM:618144 OMIM:617406 ORPHA:75376 ORPHA:75377 OMIM:617123 OMIM:619531

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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