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 optic disc morphology (HP:0012795)

Parent Node:
Optic disc pallor (HP:0000543)

..Starting node
..Temporal optic disc pallor (HP:0012511)

Term ID:

12511

Name:

Temporal optic disc pallor

Synonym:

Definition:

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.

Comments:

Reference:

HP:0012511

Genes and Diseases:

Child Nodes:

........

Optic nerve gray crescent (HP:0500086)

Sister Nodes:

Diffuse optic disc pallor (HP:0012512)

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:0012511	HP:0012511	Temporal optic disc pallor	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	101
HP:0012511	HP:0012511	Temporal optic disc pallor	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	94
HP:0012511	HP:0012511	Temporal optic disc pallor	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	54
HP:0012511	HP:0012511	Temporal optic disc pallor	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent	4
HP:0012511	HP:0012511	Temporal optic disc pallor	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	47
HP:0012511	HP:0012511	Temporal optic disc pallor	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional	214
HP:0012511	HP:0012511	Temporal optic disc pallor	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent	214
HP:0012511	HP:0500086	Optic nerve gray crescent	1	CL E G H

Genes (6) :CYP1B1 DNM1L EFEMP1 MAG MYOC OPA1

Diseases (4) :ORPHA:98977 ORPHA:98673 ORPHA:459056 ORPHA:1215

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