Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the vasculature (HP:0002597)help
Grandparent Node:
expandGeneralized abnormality of skin (HP:0011354)help
Parent Node:
expandEdema (HP:0000969)help
Parent Node:
expandVascular skin abnormality (HP:0011276)help
..Starting node
..expandAngioedema (HP:0100665)help
Term ID: 100665
Name: Angioedema
Synonym: Angioneurotic oedema; Angiooedema; Quincke edema; Quincke oedema
Definition: Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
Comments:
Reference: HP:0100665
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngiokeratoma (HP:0001014) 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:0100665HP:0100665Angioedema0ANGPT1 CL E G H284484OMIM:619361ANGIOEDEMA, HEREDITARY, 5; HAE55
HP:0100665HP:0100665Angioedema0CPN1 CL E G H13692312OMIM:212070Carboxypeptidase N deficiency.2
HP:0100665HP:0100665Angioedema0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0100665HP:0100665Angioedema0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0100665HP:0100665Angioedema0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0100665HP:0100665Angioedema0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0100665HP:0100665Angioedema0KNG1 CL E G H38276383OMIM:619363ANGIOEDEMA, HEREDITARY, 6; HAE67
HP:0100665HP:0100665Angioedema0MYOF CL E G H265093656OMIM:619366ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0100665HP:0100665Angioedema0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0100665HP:0100665Angioedema0PLG CL E G H53409071OMIM:619360ANGIOEDEMA, HEREDITARY, 4; HAE411
HP:0100665HP:0100665Angioedema0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 1.64
HP:0100665HP:0100665Angioedema0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0100665HP:0100665Angioedema0XPNPEP2 CL E G H751212823OMIM:300909Acquired angioedema.4
HP:0100665HP:0100665Angioedema0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4


Genes (13) :ANGPT1 CPN1 DNASE1L3 F12 HS3ST6 KIT KNG1 MYOF PLCG2 PLG SERPING1 SPINK5 XPNPEP2

Diseases (14) :OMIM:619361 OMIM:212070 ORPHA:36412 OMIM:610618 OMIM:619367 ORPHA:79455 OMIM:619363 OMIM:619366 OMIM:614468 OMIM:619360 OMIM:106100 OMIM:256500 OMIM:300909 ORPHA:100057
 

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