MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Gingival Hypertrophy (D005886)
..Starting node ..Oculodental syndrome Rutherfurd syndrome (C537732)
Child Nodes:
Sister Nodes:
..Oculodental syndrome Rutherfurd syndrome (C537732)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	9044
Name:	Oculodental syndrome Rutherfurd syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003317\|MESH:D005886
TreeNumbers:	C07.465.714.258.428.260/C537732 \|C11.204.236/C537732 \|C11.270.162/C537732 \|C16.320.290.162/C537732
Synonyms:	Corneal dystrophy with gum hypertrophy \|Gingival hypertrophy corneal dystrophy \|Gingival Hypertrophy With Corneal Dystrophy \|Rutherfurd syndrome
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Mouth disease
Reference:	MedGen: C537732 MeSH: C537732 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal