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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: Eye Diseases, Hereditary (D015785)
Parent Node: Graves Disease (D006111)
..Starting node ..Graves Ophthalmopathy (D049970)
Child Nodes:
Sister Nodes:
..GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300351)
..Graves Ophthalmopathy (D049970)
..THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4812
Name:	Graves Ophthalmopathy
Definition:	An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy.
Alternative IDs:
ParentIDs:	MESH:D006111\|MESH:D015785
TreeNumbers:	C11.270.842 \|C11.675.349.500.500 \|C19.874.283.605.500 \|C19.874.397.370.500 \|C20.111.555.500
Synonyms:	Congestive Ophthalmopathies \|Congestive Ophthalmopathy \|Dysthyroid Ophthalmopathies \|Dysthyroid Ophthalmopathy \|Edematous Ophthalmopathies \|Edematous Ophthalmopathy \|Infiltrative Ophthalmopathies \|Infiltrative Ophthalmopathy \|Myopathic Ophthalmopathies \|Myopathic
Slim Mappings:	Endocrine system disease\|Eye disease\|Immune system disease
Reference:	MedGen: D049970 MeSH: D049970 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants