Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Arthropathy, Neurogenic (D001177)
Parent Node: Intellectual Disability (D008607)
Parent Node: Uveitis (D014605)
..Starting node ..Ansell Bywaters Elderking syndrome (C537773)
Child Nodes:
Sister Nodes:
..Ansell Bywaters Elderking syndrome (C537773)
..Panuveitis (D015864) 13
..Synovitis granulomatous with uveitis and cranial neuropathies (C538157)
..Tubulointerstitial nephritis and uveitis (C536922)
..Uveitis, Intermediate (D015867) 2
..Uveitis, Suppurative (D015829) 1
..Uveomeningoencephalitic Syndrome (D014607)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	742
Name:	Ansell Bywaters Elderking syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001177\|MESH:D008607\|MESH:D014605
TreeNumbers:	C05.550.186/C537773 \|C10.597.606.643/C537773 \|C11.941.879/C537773 \|C23.888.592.604.646/C537773 \|F03.550.600/C537773
Synonyms:
Slim Mappings:	Eye disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537773 MeSH: C537773 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants