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:
expandbone disease (MONDO:0005381)
Parent Node:
expandlysosomal storage disease (MONDO:0002561)
..Starting node
..expandlysosomal storage disease with skeletal involvement ()

       Child Nodes:
........expandalpha-mannosidosis ()
........expandaspartylglucosaminuria ()
........expandbeta-mannosidosis ()
........expandfree sialic acid storage disease, infantile form ()
........expandfucosidosis ()
........expandgalactosialidosis ()
........expandGM1 gangliosidosis ()
........expandmucolipidosis type II ()
........expandmucolipidosis type III ()
........expandmucopolysaccharidosis type 1 ()
........expandmucopolysaccharidosis type 2 ()
........expandmucopolysaccharidosis type 3 ()
........expandmucopolysaccharidosis type 4 ()
........expandmucopolysaccharidosis type 6 ()
........expandmucopolysaccharidosis type 7 ()
........expandmucopolysaccharidosis type 9 ()
........expandmucosulfatidosis ()
........expandsialidosis type 2 ()



 Sister Nodes: 
..expanddisorder of sialic acid metabolism ()
..expandglycoprotein storage disease ()
..expandglycoproteinosis ()
..expandhereditary spastic paraplegia 48 ()
..expandinborn disorder of lysosomal amino acid transport ()
..expandlysosomal acid phosphatase deficiency ()
..expandlysosomal disease with epilepsy ()
..expandlysosomal disease with hypertrophic cardiomyopathy ()
..expandlysosomal disease with restrictive cardiomyopathy ()
..expandlysosomal glycogen storage disease ()
..expandlysosomal lipid storage disorder ()
..expandlysosomal storage disease with skeletal involvement ()
..expandmucopolysaccharidosis ()
..expandpycnodysostosis ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19706
Name:lysosomal storage disease with skeletal involvement
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:dysostosis multiplex
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal