Human Phenotype Ontology 
Grandparent Node:
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Vascular skin abnormality (HP:0011276)help
Parent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Telangiectasia (HP:0001009)help
..Starting node
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Nail bed telangiectasia (HP:0001232)help
Term ID: 1232
Name: Nail bed telangiectasia
Synonym: Nail bed telangiectases
Definition: Telangiectases in the area of the nails.
Comments:
Reference: HP:0001232
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiffuse telangiectasia (HP:0007489) help
..expandMucosal telangiectasiae (HP:0100579) help
..expandRetinal telangiectasia (HP:0007763) 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:0001232HP:0001232Nail bed telangiectasia0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1655175601284
HP:0001232HP:0001232Nail bed telangiectasia0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1590175601284
HP:0001232HP:0001232Nail bed telangiectasia0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM110243349131195
HP:0001232HP:0001232Nail bed telangiectasia0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM18923349131195
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :ACVRL1 ENG

Diseases (2) :600376 187300
 

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