Human Phenotype Ontology 
Grandparent Node:
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Telangiectasia (HP:0001009)help
Parent Node:
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Abnormal morphology of the conjunctival vasculature (HP:0008054)help
Parent Node:
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Mucosal telangiectasiae (HP:0100579)help
..Starting node
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Conjunctival telangiectasia (HP:0000524)help
Term ID: 524
Name: Conjunctival telangiectasia
Synonym: Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival
Definition: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Comments:
Reference: HP:0000524
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGastrointestinal telangiectasia (HP:0002604) help
..expandNasal mucosa telangiectasia (HP:0000434) help
..expandOral cavity telangiectasia (HP:0000228) 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:0000524HP:0000524Conjunctival telangiectasia0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0000524HP:0000524Conjunctival telangiectasia0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0000524HP:0000524Conjunctival telangiectasia0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000524HP:0000524Conjunctival telangiectasia0CTSA CL E G H54769251OMIM:256540Galactosialidosis.51
HP:0000524HP:0000524Conjunctival telangiectasia0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0000524HP:0000524Conjunctival telangiectasia0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0000524HP:0000524Conjunctival telangiectasia0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0000524HP:0000524Conjunctival telangiectasia0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0000524HP:0000524Conjunctival telangiectasia0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0000524HP:0000524Conjunctival telangiectasia0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0000524HP:0000524Conjunctival telangiectasia0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0000524HP:0000524Conjunctival telangiectasia0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0000524HP:0000524Conjunctival telangiectasia0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0000524HP:0000524Conjunctival telangiectasia0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000524HP:0000524Conjunctival telangiectasia0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0000524HP:0000524Conjunctival telangiectasia0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000524HP:0000524Conjunctival telangiectasia0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0000524HP:0000524Conjunctival telangiectasia0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0000524HP:0000524Conjunctival telangiectasia0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0000524HP:0000524Conjunctival telangiectasia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1HP:0040283 - Occasional162
HP:0000524HP:0000524Conjunctival telangiectasia0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0000524HP:0000524Conjunctival telangiectasia0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0000524HP:0000524Conjunctival telangiectasia0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86


Genes (21) :ACVRL1 ATM CTSA DDB2 ENG ERCC2 ERCC3 ERCC4 ERCC5 GDF2 GLA GNAQ LIG1 MASP1 PCNA PEX6 RNF168 SETX SMAD4 XPA XPC

Diseases (14) :ORPHA:774 OMIM:600376 OMIM:208900 OMIM:256540 ORPHA:910 OMIM:187300 ORPHA:324 ORPHA:3205 OMIM:619774 OMIM:257920 OMIM:615919 ORPHA:95433 ORPHA:420741 OMIM:606002
 

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