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 morphology (HP:0001098)

Parent Node:
Abnormality of the optic nerve (HP:0000587)

..Starting node
..Leber optic atrophy (HP:0001112)

Term ID:

1112

Name:

Leber optic atrophy

Synonym:

Leber optic atrophy features; Leber optic degeneration

Definition:

Degeneration of retinal ganglion cells and their axons.

Comments:

Reference:

HP:0001112

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal optic disc morphology (HP:0012795)

Abnormality of optic chiasm morphology (HP:0025163)

Aplasia/Hypoplasia of the optic nerve (HP:0008058)

Marcus Gunn pupil (HP:0200057)

Morning glory anomaly (HP:0025514)

Optic disc coloboma (HP:0000588)

Optic nerve arteriovenous malformation (HP:0031256)

Optic nerve compression (HP:0007807)

Optic nerve dysplasia (HP:0001093)

Optic nerve misrouting (HP:0025551)

Optic neuritis (HP:0100653)

Optic neuropathy (HP:0001138)

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:0001112	HP:0001112	Leber optic atrophy	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0001112	HP:0001112	Leber optic atrophy	0	PRICKLE3 CL E G H	4007	6645	OMIM:308905	Leber optic atrophy, susceptibility to	.	1

Genes (10) :ATP6 COX3 CYTB ND1 ND2 ND4 ND4L ND5 ND6 PRICKLE3

Diseases (2) :OMIM:535000 OMIM:308905

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