Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal artery morphology (HP:0000630)help
Grandparent Node:
expandArterial tortuosity (HP:0005116)help
Grandparent Node:
expandRetinal vascular tortuosity (HP:0012841)help
Parent Node:
expandRetinal arterial tortuosity (HP:0000631)help
..Starting node
..expandCentral retinal vessel vascular tortuosity (HP:0007768)help
Term ID: 7768
Name: Central retinal vessel vascular tortuosity
Synonym: Tortuosity of main retinal vessels
Definition: The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).
Comments:
Reference: HP:0007768
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0007768HP:0007768Central retinal vessel vascular tortuosity0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent


Genes (12) :ATP6 COX3 CYTB DNAJC30 ND1 ND2 ND4 ND4L ND5 ND6 NEK1 SELENOI

Diseases (4) :OMIM:535000 OMIM:619382 ORPHA:2751 ORPHA:506353
 

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