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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: Mucopolysaccharidoses (D009083)
..Starting node ..Mucopolysaccharidosis Type VIII (C563094)
Child Nodes:
Sister Nodes:
..Hyaluronidase Deficiency (C563209)
..Mucopolysaccharidoses, Unclassified Types (C562442)
..Mucopolysaccharidosis I (D008059)
..Mucopolysaccharidosis II (D016532)
..Mucopolysaccharidosis III (D009084)
..Mucopolysaccharidosis IV (D009085) 1
..Mucopolysaccharidosis Type VIII (C563094)
..Mucopolysaccharidosis VI (D009087)
..Mucopolysaccharidosis VII (D016538)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7435
Name:	Mucopolysaccharidosis Type VIII
Definition:
Alternative IDs:
ParentIDs:	MESH:D009083
TreeNumbers:	C16.320.565.202.715/C563094 \|C16.320.565.595.600/C563094 \|C17.300.550.575/C563094 \|C18.452.648.202.715/C563094 \|C18.452.648.595.600/C563094
Synonyms:	Diferrante Syndrome \|Glucosamine-6-Sulfate Sulfatase Deficiency \|MPS VIII
Slim Mappings:	Connective tissue disease\|Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: C563094 MeSH: C563094 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants