Disease browser and phenotype portal

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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 Diseases (D001018)
Parent Node: Vasculitis (D014657)
..Starting node ..Aortitis (D001025)
Child Nodes:
Sister Nodes:
..Aortitis (D001025)
..Arteritis (D001167) 7
..Behcet Syndrome (D001528)
..Cogan Syndrome (D055952) 2
..Malignant Atrophic Papulosis (D054853)
..Mucocutaneous Lymph Node Syndrome (D009080) 1
..Phlebitis (D010689) 3
..Purpura, Schoenlein-Henoch (D011695) 1
..Retinal Vasculitis (D031300) 1
..Shwartzman Phenomenon (D012790)
..Systemic Vasculitis (D056647) 9
..Thromboangiitis Obliterans (D013919)
..Vasculitis, Central Nervous System (D020293) 7
..Vasculitis, Leukocytoclastic, Cutaneous (D018366) 1
..Vasculitis, Lymphocytic, Cutaneous Small Vessel (C565222)
..Vasculitis, Lymphocytic, Nodular (C566008)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	802
Name:	Aortitis
Definition:	Inflammation of the wall of the AORTA.
Alternative IDs:
ParentIDs:	MESH:D001018\|MESH:D014657
TreeNumbers:	C14.907.109.320 \|C14.907.940.080
Synonyms:	Aortitides
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D001025 MeSH: D001025 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants