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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: Arthritis (D001168)
Parent Node: Deafness (D003638)
Parent Node: Polychondritis, Relapsing (D011081)
..Starting node ..Meyenburg-Altherr-Uehlinger syndrome (C537574)
Child Nodes:
Sister Nodes:
..Meyenburg-Altherr-Uehlinger syndrome (C537574)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7162
Name:	Meyenburg-Altherr-Uehlinger syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001168\|MESH:D003638\|MESH:D011081
TreeNumbers:	C05.182.531/C537574 \|C05.550.114/C537574 \|C09.218.458.341.186/C537574 \|C10.597.751.418.341.186/C537574 \|C17.300.182.531/C537574 \|C23.888.592.763.393.341.186/C537574
Synonyms:	Ashkenazi syndrome \|Atrophic polychondritis, cartilagenous arthritic deafness syndrome \|Jaksch' syndrome \|Jaksch Wartenhorst's syndrome \|Von Jaksch Wartenhorst's syndrome
Slim Mappings:	Connective tissue disease\|Ear-nose-throat disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537574 MeSH: C537574 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants