Human Phenotype Ontology 
Grandparent Node:
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Vascular skin abnormality (HP:0011276)help
Parent Node:
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Abnormal retinal vascular morphology (HP:0008046)help
Parent Node:
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Telangiectasia (HP:0001009)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007763HP:0007763Retinal telangiectasia0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0007763HP:0007763Retinal telangiectasia0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0007763HP:0007763Retinal telangiectasia0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0007763HP:0007763Retinal telangiectasia0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0007763HP:0007763Retinal telangiectasia0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0007763HP:0007763Retinal telangiectasia0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0007763HP:0007763Retinal telangiectasia0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0007763HP:0007763Retinal telangiectasia0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0007763HP:0007763Retinal telangiectasia0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0007763HP:0007763Retinal telangiectasia0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0007763HP:0007763Retinal telangiectasia0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0007763HP:0007763Retinal telangiectasia0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0007763HP:0007763Retinal telangiectasia0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040282 - Frequent1
HP:0007763HP:0007763Retinal telangiectasia0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0007763HP:0007763Retinal telangiectasia0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0007763HP:0007763Retinal telangiectasia0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0007763HP:0007763Retinal telangiectasia0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0007763HP:0030503Macular telangiectasia1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0007763HP:0030503Macular telangiectasia1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0007763HP:0030503Macular telangiectasia1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0007763HP:0030503Macular telangiectasia1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0007763HP:0030503Macular telangiectasia1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0007763HP:0030503Macular telangiectasia1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14


Genes (26) :ACVRL1 ATP6 COX1 COX3 CTC1 CTNNB1 CYTB DNAJC30 ENG FRG1 FZD4 GDF2 LRP5 ND1 ND2 ND4 ND4L ND5 ND6 NDP NDUFS2 PCNA SMAD4 STN1 TSPAN12 ZNF408

Diseases (8) :ORPHA:774 ORPHA:104 OMIM:612199 ORPHA:891 OMIM:619382 OMIM:158900 ORPHA:438134 OMIM:617341
 

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