Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100576HP:0100576Amaurosis fugax0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0100576HP:0100576Amaurosis fugax0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional3
HP:0100576HP:0100576Amaurosis fugax0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare239
HP:0100576HP:0100576Amaurosis fugax0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0100576HP:0100576Amaurosis fugax0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare449
HP:0100576HP:0100576Amaurosis fugax0CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent1
HP:0100576HP:0100576Amaurosis fugax0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional9
HP:0100576HP:0100576Amaurosis fugax0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional15
HP:0100576HP:0100576Amaurosis fugax0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0100576HP:0100576Amaurosis fugax0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0100576HP:0100576Amaurosis fugax0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0100576HP:0100576Amaurosis fugax0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040283 - Occasional4
HP:0100576HP:0100576Amaurosis fugax0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0100576HP:0100576Amaurosis fugax0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040283 - Occasional31
HP:0100576HP:0100576Amaurosis fugax0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent57
HP:0100576HP:0100576Amaurosis fugax0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0100576HP:0100576Amaurosis fugax0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional
HP:0100576HP:0100576Amaurosis fugax0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0100576HP:0100576Amaurosis fugax0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0100576HP:0100576Amaurosis fugax0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040283 - Occasional
HP:0100576HP:0100576Amaurosis fugax0MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent97
HP:0100576HP:0100576Amaurosis fugax0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0100576HP:0100576Amaurosis fugax0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0100576HP:0100576Amaurosis fugax0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0100576HP:0100576Amaurosis fugax0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0100576HP:0100576Amaurosis fugax0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0100576HP:0100576Amaurosis fugax0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0100576HP:0100576Amaurosis fugax0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare94
HP:0100576HP:0100576Amaurosis fugax0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0100576HP:0100576Amaurosis fugax0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0100576HP:0100576Amaurosis fugax0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional2
HP:0100576HP:0100576Amaurosis fugax0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040284 - Very rare1053
HP:0100576HP:0100576Amaurosis fugax0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0100576HP:0100576Amaurosis fugax0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent4
HP:0100576HP:0100576Amaurosis fugax0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent3
HP:0100576HP:0100576Amaurosis fugax0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0100576HP:0100576Amaurosis fugax0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent911
HP:0100576HP:0100576Amaurosis fugax0YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040283 - Occasional1


Genes (37) :ADA2 ADRA2B ATP1A2 BMPR1A CACNA1A CALR CNTN2 CTNND2 EPCAM FAN1 HLA-B HLA-DRB1 IL12B JAK2 KRAS MARCHF6 MLH1 MLH3 MLX MPL MSH2 MSH6 P4HA2 PIK3CA PMS1 PMS2 PRRT2 PTPN22 RPS20 SAMD12 SCN1A SEMA4A SH2B3 TET2 TGFBR2 TP53 YEATS2

Diseases (8) :ORPHA:820 ORPHA:86814 ORPHA:569 ORPHA:440437 ORPHA:3318 ORPHA:144 ORPHA:397 ORPHA:3287
 

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