Human Phenotype Ontology 
Grandparent Node:
expand
Vascular skin abnormality (HP:0011276)help
Parent Node:
expand
Abnormal retinal vascular morphology (HP:0008046)help
Parent Node:
expand
Telangiectasia (HP:0001009)help
..Starting node
..expand
Retinal telangiectasia (HP:0007763)help
Term ID: 7763
Name: Retinal telangiectasia
Synonym:
Definition: Dilatation of small blood vessels of the retina.
Comments:
Reference: HP:0007763
Genes and Diseases:
 
       Child Nodes:
........expandMacular telangiectasia (HP:0030503) help

 Sister Nodes: 
..expandDiffuse telangiectasia (HP:0007489) help
..expandMucosal telangiectasiae (HP:0100579) help
..expandNail bed telangiectasia (HP:0001232) help
..expandTelangiectasia macularis eruptiva perstans (HP:0007583) help
..expandTelangiectasia of the skin (HP:0100585) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007763HP:0007763Retinal telangiectasia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0007763HP:0007763Retinal telangiectasia0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0007763HP:0007763Retinal telangiectasia0MT-ATP6 CL E G H4508104ORPHA17414516060
HP:0007763HP:0007763Retinal telangiectasia0MT-CO1 CL E G H4512104ORPHA17419516030
HP:0007763HP:0007763Retinal telangiectasia0MT-CO3 CL E G H4514104ORPHA17422516050
HP:0007763HP:0007763Retinal telangiectasia0MT-CYB CL E G H4519104ORPHA17427516020
HP:0007763HP:0007763Retinal telangiectasia0MT-ND1 CL E G H4535104ORPHA17455516000
HP:0007763HP:0007763Retinal telangiectasia0MT-ND2 CL E G H4536104ORPHA17456516001
HP:0007763HP:0007763Retinal telangiectasia0MT-ND4 CL E G H4538104ORPHA17459516003
HP:0007763HP:0007763Retinal telangiectasia0MT-ND4L CL E G H4539104ORPHA17460516004
HP:0007763HP:0007763Retinal telangiectasia0MT-ND5 CL E G H4540104ORPHA17461516005
HP:0007763HP:0007763Retinal telangiectasia0MT-ND6 CL E G H4541104ORPHA17462516006
HP:0007763HP:0007763Retinal telangiectasia0NDUFS2 CL E G H4720104ORPHA11787708602985
HP:0007763HP:0007763Retinal telangiectasia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM113826200613128
HP:0007763HP:0030503Macular telangiectasia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0007763HP:0030503Macular telangiectasia1FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0007763HP:0030503Macular telangiectasia1MT-ATP6 CL E G H4508104ORPHA17414516060
HP:0007763HP:0030503Macular telangiectasia1MT-CO1 CL E G H4512104ORPHA17419516030
HP:0007763HP:0030503Macular telangiectasia1MT-CO3 CL E G H4514104ORPHA17422516050
HP:0007763HP:0030503Macular telangiectasia1MT-CYB CL E G H4519104ORPHA17427516020
HP:0007763HP:0030503Macular telangiectasia1MT-ND1 CL E G H4535104ORPHA17455516000
HP:0007763HP:0030503Macular telangiectasia1MT-ND2 CL E G H4536104ORPHA17456516001
HP:0007763HP:0030503Macular telangiectasia1MT-ND4 CL E G H4538104ORPHA17459516003
HP:0007763HP:0030503Macular telangiectasia1MT-ND4L CL E G H4539104ORPHA17460516004
HP:0007763HP:0030503Macular telangiectasia1MT-ND5 CL E G H4540104ORPHA17461516005
HP:0007763HP:0030503Macular telangiectasia1MT-ND6 CL E G H4541104ORPHA17462516006
HP:0007763HP:0030503Macular telangiectasia1NDUFS2 CL E G H4720104ORPHA11787708602985
HP:0007763HP:0030503Macular telangiectasia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM113826200613128
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007763HP:0007763Retinal telangiectasia0ACVRL1 CL E G H94774ORPHA0818175601284
HP:0007763HP:0007763Retinal telangiectasia0ENG CL E G H2022774ORPHA012403349131195
HP:0007763HP:0007763Retinal telangiectasia0GDF2 CL E G H2658774ORPHA02924217605120
HP:0007763HP:0007763Retinal telangiectasia0SMAD4 CL E G H4089774ORPHA017396770600993
HP:0007763HP:0030503Macular telangiectasia1ACVRL1 CL E G H94774ORPHA0818175601284
HP:0007763HP:0030503Macular telangiectasia1ENG CL E G H2022774ORPHA012403349131195
HP:0007763HP:0030503Macular telangiectasia1GDF2 CL E G H2658774ORPHA02924217605120
HP:0007763HP:0030503Macular telangiectasia1SMAD4 CL E G H4089774ORPHA017396770600993


Genes (28) :ACVRL1 ATP6 COX1 COX3 CTC1 CYTB ENG FRG1 GDF2 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 SMAD4 STN1

Diseases (5) :774 104 612199 158900 617341
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.