Human Phenotype Ontology 
Grandparent Node:
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Abnormal conjunctiva morphology (HP:0000502)help
Grandparent Node:
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Abnormality of the vasculature of the eye (HP:0008047)help
Parent Node:
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Abnormal morphology of the conjunctival vasculature (HP:0008054)help
..Starting node
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Tortuosity of conjunctival vessels (HP:0000503)help
Term ID: 503
Name: Tortuosity of conjunctival vessels
Synonym:
Definition: The presence of an increased number of twists and turns of the conjunctival blood vessels.
Comments:
Reference: HP:0000503
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConjunctival telangiectasia (HP:0000524) help
..expandSaccular conjunctival dilatations (HP:0007721) 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:0000503HP:0000503Tortuosity of conjunctival vessels0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0000503HP:0000503Tortuosity of conjunctival vessels0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000503HP:0000503Tortuosity of conjunctival vessels0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55


Genes (3) :ANO10 FUCA1 MANBA

Diseases (3) :ORPHA:284289 OMIM:230000 OMIM:248510
 

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