Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal vascular morphology (HP:0008046)help
Parent Node:
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Abnormal retinal artery morphology (HP:0000630)help
Parent Node:
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Retinal vascular tortuosity (HP:0012841)help
..Starting node
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Retinal arteriolar tortuosity (HP:0001136)help
Term ID: 1136
Name: Retinal arteriolar tortuosity
Synonym: Tortuous retinal arterioles
Definition: The presence of an increased number of twists and turns of the retinal arterioles.
Comments:
Reference: HP:0001136
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandRetinal arterial tortuosity (HP:0000631) 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:0001136HP:0001136Retinal arteriolar tortuosity0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0001136HP:0001136Retinal arteriolar tortuosity0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps.193
HP:0001136HP:0001136Retinal arteriolar tortuosity0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0001136HP:0001136Retinal arteriolar tortuosity0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of.193
HP:0001136HP:0001136Retinal arteriolar tortuosity0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001136HP:0001136Retinal arteriolar tortuosity0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001136HP:0001136Retinal arteriolar tortuosity0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001136HP:0001136Retinal arteriolar tortuosity0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional109
HP:0001136HP:0001136Retinal arteriolar tortuosity0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001136HP:0001136Retinal arteriolar tortuosity0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001136HP:0001136Retinal arteriolar tortuosity0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001136HP:0001136Retinal arteriolar tortuosity0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional125
HP:0001136HP:0001136Retinal arteriolar tortuosity0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001136HP:0001136Retinal arteriolar tortuosity0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001136HP:0001136Retinal arteriolar tortuosity0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001136HP:0001136Retinal arteriolar tortuosity0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional39
HP:0001136HP:0001136Retinal arteriolar tortuosity0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001136HP:0001136Retinal arteriolar tortuosity0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001136HP:0001136Retinal arteriolar tortuosity0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (34) :ARVCF ATP6 BAZ1B BCL7B BUD23 CLIP2 COL4A1 COMT DNAJC30 EIF4H ELN FKBP6 FZD4 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C LIMK1 LRP5 METTL27 MLXIPL NCF1 NDP RFC2 RREB1 SEC24C STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D

Diseases (8) :ORPHA:567 ORPHA:644 ORPHA:904 OMIM:611773 OMIM:175780 OMIM:180000 OMIM:194050 ORPHA:90050
 

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