Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the vasculature (HP:0002597)help
Grandparent Node:
expandGeneralized abnormality of skin (HP:0011354)help
Parent Node:
expandVascular skin abnormality (HP:0011276)help
..Starting node
..expandAngiokeratoma (HP:0001014)help
Term ID: 1014
Name: Angiokeratoma
Synonym: Angiokeratomas
Definition: Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
Comments:
Reference: HP:0001014
Genes and Diseases:
 
       Child Nodes:
........expandAngiokeratoma corporis diffusum (HP:0001071) help

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCutis marmorata (HP:0000965) help
..expandErythema (HP:0010783) help
..expandNon-pruritic urticaria (HP:0011137) help
..expandProminent superficial blood vessels (HP:0007394) help
..expandSubcutaneous hemorrhage (HP:0001933) help
..expandTelangiectasia (HP:0001009) help
..expandUrticaria (HP:0001025) help
..expandVasculitis in the skin (HP:0200029) 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:0001014HP:0001014Angiokeratoma0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0001014HP:0001014Angiokeratoma0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0001014HP:0001014Angiokeratoma0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0001014HP:0001014Angiokeratoma0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0001014HP:0001014Angiokeratoma0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0001014HP:0001014Angiokeratoma0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL.55
HP:0001014HP:0001014Angiokeratoma0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0001014HP:0001014Angiokeratoma0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0001014HP:0034410Angiokeratoma circumscriptum naeviforme1 CL E G H
HP:0001014HP:0034409Fordyce angiokeratoma1 CL E G H
HP:0001014HP:0034408Solitary angiokeratoma1 CL E G H
HP:0001014HP:0034411Angiokeratoma of Mibelli1 CL E G H
HP:0001014HP:0001071Angiokeratoma corporis diffusum1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0001014HP:0001071Angiokeratoma corporis diffusum1GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0001014HP:0001071Angiokeratoma corporis diffusum1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0001014HP:0001071Angiokeratoma corporis diffusum1NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0001014HP:0001071Angiokeratoma corporis diffusum1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47


Genes (6) :AGA FUCA1 GLA GLB1 MANBA NAGA

Diseases (8) :OMIM:208400 OMIM:230000 ORPHA:324 OMIM:301500 OMIM:230500 OMIM:248510 ORPHA:79280 OMIM:609242
 

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