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 posterior segment imaging (HP:0030601)

Parent Node:
Abnormal fundus autofluorescence imaging (HP:0030602)

..Starting node
..Hypoautofluorescent retinal lesion (HP:0025159)

Term ID:

25159

Name:

Hypoautofluorescent retinal lesion

Synonym:

Hypo-autofluorescent retinal lesion

Definition:

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

Comments:

Reference:

HP:0025159

Genes and Diseases:

Child Nodes:

........

Hypoautofluorescent macular lesion (HP:0030632)

Sister Nodes:

Hyperautofluorescent retinal lesion (HP:0025158)

Irregular central macular autofluorescence (HP:0030630)

Perifoveal ring of hyperautofluorescence (HP:0030629)

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:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0025159	HP:0025159	Hypoautofluorescent retinal lesion	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0025159	HP:0030632	Hypoautofluorescent macular lesion	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0025159	HP:0030632	Hypoautofluorescent macular lesion	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0025159	HP:0030632	Hypoautofluorescent macular lesion	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0025159	HP:0030632	Hypoautofluorescent macular lesion	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0025159	HP:0034272	Perifoveal hypoautofluorescence	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200

Genes (6) :CFH CFI CWC27 EFEMP1 RPGR TLCD3B

Diseases (5) :ORPHA:75376 OMIM:250410 OMIM:304020 OMIM:300029 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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