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:
Abnormality of the optic nerve (HP:0000587)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Optic neuritis (HP:0100653)

..Starting node
..Retrobulbar optic neuritis (HP:0100654)

Term ID:

100654

Name:

Retrobulbar optic neuritis

Synonym:

Retrobulbar neuritis

Definition:

Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.

Comments:

Reference:

HP:0100654

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0100654	HP:0100654	Retrobulbar optic neuritis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional	217
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0100654	HP:0100654	Retrobulbar optic neuritis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional

Genes (18) :C4A CCR1 ERAP1 FAS HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV NLRP3 NOD2 PRORP STAT4 TLR4 UBAC2

Diseases (4) :ORPHA:117 ORPHA:1451 ORPHA:90340 OMIM:619737

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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