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: |
..Abnormal lower lip morphology (HP:0000178)
|
..Abnormal upper lip morphology (HP:0000177)
|
..Chapped lip (HP:0040181)
|
..Cheilitis (HP:0100825)
|
..Eclabion (HP:0012472)
|
..Fused lips (HP:0100788)
|
..Lip discoloration (HP:0025118)
|
..Lip fissure (HP:0031250)
|
..Lip freckle (HP:0010798)
|
..Lip hyperpigmentation (HP:0100816)
|
..Lip pit (HP:0100267)
|
..Lip telangiectasia (HP:0000214)
|
..Neoplasm of the lip (HP:0100604)
|
..Thick vermilion border (HP:0012471)
|
..Thin vermilion border (HP:0000233)
|
..Vascular malformation of the lip (HP:0031486)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0031244 | HP:0031244 | Swollen lip | 0 | ANGPT1 CL E G H | 284 | 484 | OMIM:619361 | ANGIOEDEMA, HEREDITARY, 5; HAE5 | | | | 5 | | | HP:0031244 | HP:0031244 | Swollen lip | 0 | HS3ST6 CL E G H | 64711 | 14178 | OMIM:619367 | ANGIOEDEMA, HEREDITARY, 8; HAE8 | | | | | | | HP:0031244 | HP:0031244 | Swollen lip | 0 | KNG1 CL E G H | 3827 | 6383 | OMIM:619363 | ANGIOEDEMA, HEREDITARY, 6; HAE6 | | | | 7 | | | HP:0031244 | HP:0031244 | Swollen lip | 0 | MYOF CL E G H | 26509 | 3656 | OMIM:619366 | ANGIOEDEMA, HEREDITARY, 7; HAE7 | | | | | | | HP:0031244 | HP:0031244 | Swollen lip | 0 | PLG CL E G H | 5340 | 9071 | OMIM:619360 | ANGIOEDEMA, HEREDITARY, 4; HAE4 | | | | 11 | | | HP:0031244 | HP:0031244 | Swollen lip | 0 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
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.
|