Disease browser and phenotype portal

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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: Malocclusion (D008310)
..Starting node ..Diastema (D003970)
Child Nodes:
........Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262)
Sister Nodes:
..Dental Occlusion, Traumatic (D003769)
..Diastema (D003970) 1
..Malocclusion and Short Stature (C565421)
..Malocclusion, Angle Class I (D008311)
..Malocclusion, Angle Class II (D008312) 1
..Malocclusion, Angle Class III (D008313)
..Open Bite (D024343)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3348
Name:	Diastema
Definition:	An abnormal opening or fissure between two adjacent teeth.
Alternative IDs:
ParentIDs:	MESH:D008310
TreeNumbers:	C07.793.494.466
Synonyms:	Diastemas
Slim Mappings:	Mouth disease
Reference:	MedGen: D003970 MeSH: D003970 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants