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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: Abnormalities, Multiple (D000015)
Parent Node: Anus, Imperforate (D001006)
Parent Node: Contracture (D003286)
Parent Node: Goldenhar Syndrome (D006053)
..Starting node ..Axial mesodermal dysplasia spectrum (C537790)
Child Nodes:
Sister Nodes:
..Axial mesodermal dysplasia spectrum (C537790)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1111
Name:	Axial mesodermal dysplasia spectrum
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D001006\|MESH:D003286\|MESH:D006053
TreeNumbers:	C05.116.099.370.231.576.410/C537790 \|C05.550.323/C537790 \|C05.651.197/C537790 \|C05.660.207.231.576.410/C537790 \|C06.198.050/C537790 \|C16.131.077/C537790 \|C16.131.314.094/C537790 \|C16.131.621.207.231.576.410/C537790
Synonyms:	Russell Weaver Bull syndrome
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Musculoskeletal disease
Reference:	MedGen: C537790 MeSH: C537790 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants