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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Aortic Aneurysm, Thoracic (D017545)
Parent Node: Cysts (D003560)
..Starting node ..Cystic medial necrosis of aorta (C536230)
Child Nodes:
Sister Nodes:
..Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..Arachnoid Cysts (D016080) 6
..Bone Cysts (D001845) 11
..Branchioma (D001935)
..Breast Cyst (D047688) 1
..Bronchogenic Cyst (D001994)
..Chalazion (D017043)
..Choledochal Cyst (D015529) 2
..Colloid Cysts (D056364) 1
..Cystic medial necrosis of aorta (C536230)
..Dermoid Cyst (D003884) 5
..Ectodermal dysplasia adrenal cyst (C538015)
..Epidermal Cyst (D004814) 2
..Esophageal Cyst (D004934)
..Follicular Cyst (D005497) 2
..Ganglion Cysts (D045888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Lymphocele (D008210) 1
..Mediastinal Cyst (D008476)
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Mesenteric Cyst (D008639)
..Microphthalmia associated with colobomatous cyst (C537463)
..Mucocele (D009078)
..Ovarian Cysts (D010048) 5
..Pancreatic Cyst (D010181) 2
..Parovarian Cyst (D010310)
..Pilonidal Sinus (D010864)
..Polycystic liver disease (C536330)
..Ranula (D011900)
..Sener syndrome (C537579)
..Spermatocele (D013088)
..Synovial Cyst (D013581) 1
..Tarlov Cysts (D052958)
..Thyroglossal Cyst (D013955) 1
..Urachal Cyst (D014496) 1
..Van der Woude syndrome (C536528) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2940
Name:	Cystic medial necrosis of aorta
Definition:
Alternative IDs:
ParentIDs:	MESH:D003560\|MESH:D017545
TreeNumbers:	C04.182/C536230 \|C14.907.055.239.125/C536230 \|C14.907.109.139.125/C536230 \|C23.300.306/C536230
Synonyms:	Erdheim Cystic medial necrosis of aorta
Slim Mappings:	Cancer\|Cardiovascular disease\|Pathology (anatomical condition)
Reference:	MedGen: C536230 MeSH: C536230 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants