Human Phenotype Ontology 
Grandparent Node:
expandAbnormal vascular morphology (HP:0025015)help
Parent Node:
expandAbnormal systemic arterial morphology (HP:0011004)help
..Starting node
..expandArterial dissection (HP:0005294)help
Term ID: 5294
Name: Arterial dissection
Synonym:
Definition: A separation (dissection) of the layers of an artery.
Comments:
Reference: HP:0005294
Genes and Diseases:
 
       Child Nodes:
........expandExtracranial internal carotid artery dissection (HP:0004945) help

 Sister Nodes: 
..expandAbnormal aortic morphology (HP:0001679) help
..expandAbnormal carotid artery morphology (HP:0005344) help
..expandAbnormal celiac artery morphology (HP:0012326) help
..expandAbnormal cerebral artery morphology (HP:0009145) help
..expandAbnormal coronary artery morphology (HP:0006704) help
..expandAbnormal facial artery morphology (HP:3000024) help
..expandAbnormal greater palatine artery morphology (HP:3000049) help
..expandAbnormal lacrimal artery morphology (HP:3000065) help
..expandAbnormal lingual artery morphology (HP:3000074) help
..expandAbnormal radial artery morphology (HP:0031640) help
..expandAbnormal renal artery morphology (HP:0008776) help
..expandAbnormal retinal artery morphology (HP:0000630) help
..expandAbnormal subclavian artery morphology (HP:0031251) help
..expandAbnormal vertebral artery morphology (HP:0030321) help
..expandArterial calcification (HP:0003207) help
..expandArterial fibromuscular dysplasia (HP:0005313) help
..expandArterial intimal fibrosis (HP:0011353) help
..expandArterial stenosis (HP:0100545) help
..expandArterial tortuosity (HP:0005116) help
..expandArteriosclerosis (HP:0002634) help
..expandArteritis (HP:0012089) help
..expandCystic medial necrosis (HP:0012180) help
..expandDilatation of an abdominal artery (HP:0002636) 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:0005294HP:0005294Arterial dissection0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0005294HP:0005294Arterial dissection0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0005294HP:0005294Arterial dissection0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0005294HP:0005294Arterial dissection0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0005294HP:0005294Arterial dissection0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent
HP:0005294HP:0005294Arterial dissection0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0005294HP:0005294Arterial dissection0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0005294HP:0005294Arterial dissection0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent239
HP:0005294HP:0005294Arterial dissection0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent253
HP:0005294HP:0004945Extracranial internal carotid artery dissection1 CL E G H


Genes (9) :COL1A1 COL3A1 COL5A1 COL5A2 IPO8 PLOD1 SMAD3 TGFBR1 TGFBR2

Diseases (5) :ORPHA:287 ORPHA:286 ORPHA:60030 ORPHA:1900 ORPHA:284984
 

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