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 retinal morphology (HP:0000479)

Grandparent Node:
Fundus hemorrhage (HP:0031803)

Grandparent Node:
Hemorrhage of the eye (HP:0011885)

Parent Node:
Abnormal macular morphology (HP:0001103)

Parent Node:
Retinal hemorrhage (HP:0000573)

..Starting node
..Macular hemorrhage (HP:0025574)

Term ID:

25574

Name:

Macular hemorrhage

Synonym:

Macular haemorrhage

Definition:

Bleeding occurring within the macula lutea of the retina.

Comments:

Reference:

HP:0025574

Genes and Diseases:

Child Nodes:

........

Foveal hemorrhage (HP:0025581)

........

Submacular hemorrhage (HP:0025582)

Sister Nodes:

Intraretinal hemorrhage (HP:0031805)

Sub-inner limiting membrane hemorrhage (HP:0031611)

Subretinal hemorrhage (HP:0025243)

Subretinal pigment epithelium hemorrhage (HP:0025244)

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:0025574	HP:0025574	Macular hemorrhage	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional	39
HP:0025574	HP:0025574	Macular hemorrhage	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0025574	HP:0025574	Macular hemorrhage	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional
HP:0025574	HP:0025574	Macular hemorrhage	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional
HP:0025574	HP:0025574	Macular hemorrhage	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0025574	HP:0025574	Macular hemorrhage	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0025574	HP:0025574	Macular hemorrhage	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional	262
HP:0025574	HP:0025582	Submacular hemorrhage	1	CL E G H
HP:0025574	HP:0025581	Foveal hemorrhage	1	CL E G H

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.