MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandinborn carbohydrate metabolic disorder (MONDO:0019214)
Parent Node:
expandlysosomal storage disease (MONDO:0002561)
Parent Node:
expandrare disease with glaucoma as a major feature (MONDO:0020222)
..Starting node
..expandmucopolysaccharidosis ()

       Child Nodes:
........expandmucopolysaccharidoses, unclassified types ()
........expandmucopolysaccharidosis type 1 ()
........expandmucopolysaccharidosis type 3 ()
........expandmucopolysaccharidosis type 4 ()
........expandmucopolysaccharidosis type 6 ()
........expandmucopolysaccharidosis type 7 ()
........expandmucopolysaccharidosis type 9 ()
........expandmucopolysaccharidosis with skin involvement ()
........expandmucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ()



 Sister Nodes: 
..expandAlagille syndrome ()
..expandaniridia-cerebellar ataxia-intellectual disability syndrome ()
..expandAxenfeld-Rieger syndrome ()
..expandchromosome 6pter-p24 deletion syndrome ()
..expandclassic homocystinuria ()
..expanddyssegmental dysplasia-glaucoma syndrome ()
..expandglaucoma-sleep apnea syndrome ()
..expandisolated Pierre-Robin syndrome ()
..expandLowry-MacLean syndrome ()
..expandMarshall syndrome ()
..expandMeckel syndrome ()
..expandmegalocornea-intellectual disability syndrome ()
..expandMelnick-Needles syndrome ()
..expandmicrophthalmia with linear skin defects syndrome ()
..expandmucopolysaccharidosis ()
..expandoculocerebrorenal syndrome ()
..expandoculofaciocardiodental syndrome ()
..expandPeters plus syndrome ()
..expandphakomatosis pigmentovascularis ()
..expandRubinstein-Taybi syndrome ()
..expandSHORT syndrome ()
..expandStickler syndrome ()
..expandSturge-Weber syndrome ()
..expandvon Hippel-Lindau disease ()
..expandWAGR syndrome ()
..expandWeill-Marchesani syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19249
Name:mucopolysaccharidosis
Definition:A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:MPS; mucopolysaccharidoses; mucopolysaccharidosis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal