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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: Brachydactyly (D059327)
Parent Node: Retinitis Pigmentosa (D012174)
Parent Node: Tooth Diseases (D014076)
..Starting node ..Bork Stender Schmidt syndrome (C536576)
Child Nodes:
Sister Nodes:
..Bork Stender Schmidt syndrome (C536576)
..Bruxism (D002012) 2
..Dental Deposits (D003741) 3
..Dental Leakage (D003763)
..Dental Pulp Diseases (D003788) 8
..Dentin Sensitivity (D003807)
..Failure of Tooth Eruption, Primary (C565114)
..Fluorosis, Dental (D009050)
..Focal Infection, Dental (D005491)
..Hypercementosis (D006936)
..Hypoplasia of Teeth Roots (C564144)
..Malocclusion (D008310) 9
..Mouth, Edentulous (D009066) 2
..Tooth Abnormalities (D014071) 130
..Tooth Ankylosis (D020254) 1
..Tooth Demineralization (D017001) 6
..Tooth Discoloration (D014075) 1
..Tooth Eruption, Ectopic (D014079)
..Tooth Injuries (D018677) 3
..Tooth Loss (D016388)
..Tooth Resorption (D014091) 1
..Tooth Wear (D057085) 3
..Tooth, Impacted (D014095)
..Tooth, Unerupted (D014097)
..Toothache (D014098)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1382
Name:	Bork Stender Schmidt syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D012174\|MESH:D014076\|MESH:D059327
TreeNumbers:	C05.660.585.262/C536576 \|C07.793/C536576 \|C11.270.684/C536576 \|C11.768.585.658.500/C536576 \|C16.131.621.585.262/C536576 \|C16.320.290.684/C536576
Synonyms:	Bork syndrome \|Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: C536576 MeSH: C536576 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants