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: Abnormalities, Multiple (D000015)
Parent Node: Genu Valgum (D056304)
..Starting node ..Stoelinga de Koomen Davis syndrome (C537496)
Child Nodes:
Sister Nodes:
..Genu valgum, st Helena familial (C537685)
..Stoelinga de Koomen Davis syndrome (C537496)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10676
Name:	Stoelinga de Koomen Davis syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D056304
TreeNumbers:	C05.116.482/C537496 \|C16.131.077/C537496
Synonyms:	Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects \|Non erupted teeth with maxillary hypoplasia and genu valgum
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C537496 MeSH: C537496 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants