Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormality of the optic nerve (HP:0000587)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Optic neuritis (HP:0100653)help
Term ID: 100653
Name: Optic neuritis
Synonym:
Definition: Inflammation of the optic nerve.
Comments:
Reference: HP:0100653
Genes and Diseases:
 
       Child Nodes:
........expandRetrobulbar optic neuritis (HP:0100654) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100653HP:0100653Optic neuritis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100653Optic neuritis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100653Optic neuritis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100653Optic neuritis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0100653HP:0100653Optic neuritis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0100653HP:0100653Optic neuritis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0100653HP:0100653Optic neuritis0IKBKG CL E G H85175961OMIM:30108152
HP:0100653HP:0100653Optic neuritis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100653HP:0100653Optic neuritis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100653Optic neuritis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100653Optic neuritis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100653Optic neuritis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100653Optic neuritis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0100653HP:0100653Optic neuritis0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndrome217
HP:0100653HP:0100653Optic neuritis0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0100653HP:0100653Optic neuritis0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0100653HP:0100653Optic neuritis0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0100653HP:0100653Optic neuritis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100653HP:0100653Optic neuritis0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0100653HP:0100653Optic neuritis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0100653HP:0100653Optic neuritis0TLR7 CL E G H5128415631OMIM:301080
HP:0100653HP:0100653Optic neuritis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100654Retrobulbar optic neuritis1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100654Retrobulbar optic neuritis1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100654Retrobulbar optic neuritis1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100654Retrobulbar optic neuritis1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0100653HP:0100654Retrobulbar optic neuritis1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0100653HP:0100654Retrobulbar optic neuritis1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0100653HP:0100654Retrobulbar optic neuritis1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100653HP:0100654Retrobulbar optic neuritis1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100654Retrobulbar optic neuritis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100654Retrobulbar optic neuritis1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100653HP:0100654Retrobulbar optic neuritis1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100653HP:0100654Retrobulbar optic neuritis1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0100653HP:0100654Retrobulbar optic neuritis1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0100653HP:0100654Retrobulbar optic neuritis1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0100653HP:0100654Retrobulbar optic neuritis1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0100653HP:0100654Retrobulbar optic neuritis1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100653HP:0100654Retrobulbar optic neuritis1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0100653HP:0100654Retrobulbar optic neuritis1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (22) :C4A CCR1 ERAP1 FAS HLA-B IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV NLRP3 NOD2 POLG PRORP STAT4 TK2 TLR4 TLR7 UBAC2

Diseases (7) :ORPHA:117 OMIM:301081 ORPHA:1451 ORPHA:90340 ORPHA:254886 OMIM:619737 OMIM:301080
 

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