Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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Amaurosis fugax (HP:0100576)help
Term ID: 100576
Name: Amaurosis fugax
Synonym:
Definition: A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
Comments:
Reference: HP:0100576
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandMetamorphopsia (HP:0012508) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100576HP:0100576Amaurosis fugax0ADA2 CL E G H51816820ORPHA1553091839607575
HP:0100576HP:0100576Amaurosis fugax0CALR CL E G H8113318ORPHA15391455109091
HP:0100576HP:0100576Amaurosis fugax0JAK2 CL E G H37173318ORPHA1262616192147796
HP:0100576HP:0100576Amaurosis fugax0MPL CL E G H43523318ORPHA1573087217159530
HP:0100576HP:0100576Amaurosis fugax0NOTCH3 CL E G H4854136ORPHA13798367883600276
HP:0100576HP:0100576Amaurosis fugax0SH2B3 CL E G H100193318ORPHA1164329605605093
HP:0100576HP:0100576Amaurosis fugax0TET2 CL E G H547903318ORPHA1127625941612839
HP:0100576HP:0100576Amaurosis fugax0TP53 CL E G H71573318ORPHA1541226811998191170
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100576HP:0100576Amaurosis fugax0ADRA2B CL E G H15186814ORPHA0774282104260
HP:0100576HP:0100576Amaurosis fugax0CNTN2 CL E G H690086814ORPHA062922172190197
HP:0100576HP:0100576Amaurosis fugax0CTNND2 CL E G H150186814ORPHA0372552516604275
HP:0100576HP:0100576Amaurosis fugax0EPCAM CL E G H4072144ORPHA08135611529185535
HP:0100576HP:0100576Amaurosis fugax0FAN1 CL E G H22909144ORPHA02134529170613534
HP:0100576HP:0100576Amaurosis fugax0HLA-B CL E G H31063287ORPHA053174932142830
HP:0100576HP:0100576Amaurosis fugax0IL12B CL E G H35933287ORPHA0191345970161561
HP:0100576HP:0100576Amaurosis fugax0KRAS CL E G H3845144ORPHA0453296407190070
HP:0100576HP:0100576Amaurosis fugax0MLH1 CL E G H4292144ORPHA0120335217127120436
HP:0100576HP:0100576Amaurosis fugax0MLH3 CL E G H27030144ORPHA0326337128604395
HP:0100576HP:0100576Amaurosis fugax0MLX CL E G H69453287ORPHA012011645602976
HP:0100576HP:0100576Amaurosis fugax0MSH2 CL E G H4436144ORPHA0126445857325609309
HP:0100576HP:0100576Amaurosis fugax0MSH6 CL E G H2956144ORPHA060256747329600678
HP:0100576HP:0100576Amaurosis fugax0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0100576HP:0100576Amaurosis fugax0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0100576HP:0100576Amaurosis fugax0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0100576HP:0100576Amaurosis fugax0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0100576HP:0100576Amaurosis fugax0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0100576HP:0100576Amaurosis fugax0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0100576HP:0100576Amaurosis fugax0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0100576HP:0100576Amaurosis fugax0MT-TF CL E G H4558550ORPHA07481590070
HP:0100576HP:0100576Amaurosis fugax0MT-TH CL E G H4564550ORPHA07487590040
HP:0100576HP:0100576Amaurosis fugax0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0100576HP:0100576Amaurosis fugax0MT-TQ CL E G H4572550ORPHA07495590030
HP:0100576HP:0100576Amaurosis fugax0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0100576HP:0100576Amaurosis fugax0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0100576HP:0100576Amaurosis fugax0MT-TW CL E G H4578550ORPHA07501590095
HP:0100576HP:0100576Amaurosis fugax0PIK3CA CL E G H5290144ORPHA0575318975171834
HP:0100576HP:0100576Amaurosis fugax0PMS1 CL E G H5378144ORPHA036859121600258
HP:0100576HP:0100576Amaurosis fugax0PMS2 CL E G H5395144ORPHA036331309122600259
HP:0100576HP:0100576Amaurosis fugax0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0100576HP:0100576Amaurosis fugax0SAMD12 CL E G H40147486814ORPHA015031750618073
HP:0100576HP:0100576Amaurosis fugax0TGFBR2 CL E G H7048144ORPHA014867211773190182


Genes (41) :ADA2 ADRA2B CALR CNTN2 COX1 COX2 COX3 CTNND2 EPCAM FAN1 HLA-B IL12B JAK2 KRAS MLH1 MLH3 MLX MPL MSH2 MSH6 ND1 ND4 ND5 ND6 NOTCH3 PIK3CA PMS1 PMS2 PTPN22 SAMD12 SH2B3 TET2 TGFBR2 TP53 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW

Diseases (8) :820 86814 3318 550 144 3287 136 397
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.