Human Phenotype Ontology 
Grandparent Node:
expandAbnormal retinal morphology (HP:0000479)help
Parent Node:
expandYellow/white lesions of the retina (HP:0030506)help
..Starting node
..expandRetinal cotton wool spot (HP:0031606)help
Term ID: 31606
Name: Retinal cotton wool spot
Synonym:
Definition: Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.
Comments:
Reference: HP:0031606
Genes and Diseases:
 
       Child Nodes:
........expandMacular cotton wool spot (HP:0030497) help

 Sister Nodes: 
..expandDrusen (HP:0011510) help
..expandRetinal calcification (HP:0007862) help
..expandRetinal crystals (HP:0030507) help
..expandRetinal exudate (HP:0001147) help
..expandRetinal flecks (HP:0012045) help
..expandVitelliform-like retinal lesions (HP:0030643) help
..expandYellow/white lesions of the macula (HP:0030500) 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:0031606HP:0031606Retinal cotton wool spot0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0031606HP:0030497Macular cotton wool spot1 CL E G H


Genes (1) :TREX1

Diseases (1) :ORPHA:247691
 

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