Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
expand
Abnormal lip morphology (HP:0000159)help
..Starting node
..expand
Swollen lip (HP:0031244)help
Term ID: 31244
Name: Swollen lip
Synonym: Edematous lip; Swelling of the lip
Definition: Enlargement of the lip typically due to fluid buildup or inflammation.
Comments:
Reference: HP:0031244
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lower lip morphology (HP:0000178) help
..expandAbnormal upper lip morphology (HP:0000177) help
..expandChapped lip (HP:0040181) help
..expandCheilitis (HP:0100825) help
..expandEclabion (HP:0012472) help
..expandFused lips (HP:0100788) help
..expandLip discoloration (HP:0025118) help
..expandLip fissure (HP:0031250) help
..expandLip freckle (HP:0010798) help
..expandLip hyperpigmentation (HP:0100816) help
..expandLip pit (HP:0100267) help
..expandLip telangiectasia (HP:0000214) help
..expandNeoplasm of the lip (HP:0100604) help
..expandThick vermilion border (HP:0012471) help
..expandThin vermilion border (HP:0000233) help
..expandVascular malformation of the lip (HP:0031486) 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:0031244HP:0031244Swollen lip0ANGPT1 CL E G H284484OMIM:619361ANGIOEDEMA, HEREDITARY, 5; HAE55
HP:0031244HP:0031244Swollen lip0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0031244HP:0031244Swollen lip0KNG1 CL E G H38276383OMIM:619363ANGIOEDEMA, HEREDITARY, 6; HAE67
HP:0031244HP:0031244Swollen lip0MYOF CL E G H265093656OMIM:619366ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0031244HP:0031244Swollen lip0PLG CL E G H53409071OMIM:619360ANGIOEDEMA, HEREDITARY, 4; HAE411
HP:0031244HP:0031244Swollen lip0XPNPEP2 CL E G H751212823ORPHA:100057Renin-angiotensin-aldosterone system-blocker-induced angioedema4


Genes (6) :ANGPT1 HS3ST6 KNG1 MYOF PLG XPNPEP2

Diseases (6) :OMIM:619361 OMIM:619367 OMIM:619363 OMIM:619366 OMIM:619360 ORPHA:100057
 

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