Human Phenotype Ontology 
Grandparent Node:
Abnormal retinal vascular morphology (HP:0008046)help
Grandparent Node:
Telangiectasia (HP:0001009)help
Parent Node:
Abnormality morphology of the macular vasculature (HP:0030495)help
Parent Node:
Retinal telangiectasia (HP:0007763)help
..Starting node
Macular telangiectasia (HP:0030503)help
Term ID: 30503
Name: Macular telangiectasia
Synonym: Juxtafoveal telangiectasia; Parafoveal telangiectasia
Reference: HP:0030503
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:0030503HP:0030503Macular telangiectasia0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0030503HP:0030503Macular telangiectasia0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0030503HP:0030503Macular telangiectasia0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0030503HP:0030503Macular telangiectasia0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0030503HP:0030503Macular telangiectasia0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0030503HP:0030503Macular telangiectasia0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14

Genes (6) :CTNNB1 FZD4 LRP5 NDP TSPAN12 ZNF408

Diseases (1) :ORPHA:891

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