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:
Abnormality of connective tissue (HP:0003549)

Parent Node:
Macular atrophy (HP:0007401)

Parent Node:
Scarring (HP:0100699)

..Starting node
..Macular scar (HP:0200056)

Term ID:

200056

Name:

Macular scar

Synonym:

Macular scarring

Definition:

Scar tissue in the macula.

Comments:

Reference:

HP:0200056

Genes and Diseases:

Child Nodes:

........

Disciform macular scar (HP:0025094)

Sister Nodes:

Atypical scarring of skin (HP:0000987)

Chorioretinal scar (HP:0007777)

Corneal scarring (HP:0000559)

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:0200056	HP:0200056	Macular scar	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0200056	HP:0200056	Macular scar	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0200056	HP:0200056	Macular scar	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0200056	HP:0200056	Macular scar	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0200056	HP:0200056	Macular scar	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional	44
HP:0200056	HP:0025094	Disciform macular scar	1	CL E G H

Genes (5) :CFI HLA-A NMNAT1 SH3BP2 TNFRSF11B

Diseases (5) :OMIM:615439 ORPHA:179 OMIM:608553 OMIM:118400 OMIM:239000

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