Human Phenotype Ontology 
Grandparent Node:
expandAbnormal systemic arterial morphology (HP:0011004)help
Grandparent Node:
expandVascular tortuosity (HP:0004948)help
Parent Node:
expandArterial tortuosity (HP:0005116)help
..Starting node
..expandGeneralized arterial tortuosity (HP:0004955)help
Term ID: 4955
Name: Generalized arterial tortuosity
Synonym: Arterial tortuosity, general; Arterial tortuosity, generalised; Arterial tortuosity, generalized; Generalised arterial tortuosity; Generalised twisted arteries; Generalized twisted arteries
Definition: Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
Comments:
Reference: HP:0004955
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCarotid artery tortuosity (HP:0005302) help
..expandRetinal arterial tortuosity (HP:0000631) help
..expandTemporal artery tortuosity (HP:0030165) help
..expandTortuous cerebral arteries (HP:0004938) 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:0004955HP:0004955Generalized arterial tortuosity0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0004955HP:0004955Generalized arterial tortuosity0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0004955HP:0004955Generalized arterial tortuosity0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2.253


Genes (3) :EFEMP2 SLC2A10 TGFBR2

Diseases (3) :OMIM:614437 OMIM:208050 OMIM:610168
 

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