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:
expanddisease by molecular activity disrupted (MONDO:0021196)
..Starting node
..expanddisease of catalytic activity ()

       Child Nodes:
........expand3-methylcrotonyl-CoA carboxylase deficiency ()
........expand46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ()
........expand5-oxoprolinase deficiency (disease) ()
........expandadenylosuccinate lyase deficiency ()
........expandAGAT deficiency ()  LSDB  L: 00444;
........expandalcohol sensitivity, acute ()  LSDB  L: 00081;
........expandalpha-mannosidosis ()
........expandalpha-N-acetylgalactosaminidase deficiency ()
........expandaromatase excess syndrome ()
........expandbiotinidase deficiency ()
........expandcarnitine acetyltransferase deficiency ()
........expandchronic diarrhea due to glucoamylase deficiency ()
........expandchronic granulomatous disease ()
........expandclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ()
........expandcongenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ()
........expandcortisone reductase deficiency ()
........expanddiarrhea-vomiting due to trehalase deficiency ()
........expanddihydropteridine reductase deficiency ()
........expanddimethylglycine dehydrogenase deficiency ()
........expanddopa-responsive dystonia due to sepiapterin reductase deficiency ()
........expandencephalopathy due to sulfite oxidase deficiency ()
........expandFabry disease ()
........expandfactor X deficiency ()
........expandfactor XIII deficiency ()
........expandGABA aminotransferase deficiency ()
........expandgamma-glutamyl transpeptidase deficiency ()
........expandGaucher disease perinatal lethal ()
........expandGaucher disease type II ()
........expandGaucher disease type III ()
........expandglucosephosphate dehydrogenase deficiency ()
........expandgluthathione peroxidase deficiency ()
........expandglycogen storage disease due to glycogen synthase deficiency ()
........expandglycogen storage disease due to lactate dehydrogenase deficiency ()
........expandglycogen storage disease due to phosphorylase kinase deficiency ()
........expandglycogen storage disease I ()
........expandGM1 gangliosidosis ()
........expandGM3 synthase deficiency ()
........expandguanidinoacetate methyltransferase deficiency ()
........expandhemophilia A ()
........expandhereditary thrombophilia due to congenital protein C deficiency ()
........expandholocarboxylase synthetase deficiency ()
........expandHurler syndrome ()
........expandinborn aminoacylase deficiency ()
........expandinborn glycerol kinase deficiency ()
........expandKrabbe disease ()
........expandlate infantile neuronal ceroid lipofuscinosis ()
........expandlong chain acyl-CoA dehydrogenase deficiency ()
........expandmedium chain acyl-CoA dehydrogenase deficiency ()  LSDB  L: 00434;
........expandmucopolysaccharidosis type 2 ()
........expandmucopolysaccharidosis type 4A ()
........expandmucopolysaccharidosis type 4B ()
........expandmucopolysaccharidosis type 6 ()
........expandmucopolysaccharidosis type 7 ()
........expandmucopolysaccharidosis type 9 ()
........expandneuropathy, hereditary sensory and autonomic, type 1A ()
........expandOgden syndrome ()
........expandphosphoribosylpyrophosphate synthetase superactivity ()
........expandpyruvate dehydrogenase deficiency ()
........expandrecessive X-linked ichthyosis ()
........expandSanfilippo syndrome type A ()
........expandsarcosinemia ()
........expandshort chain acyl-CoA dehydrogenase deficiency ()  LSDB  L: 00435;
........expandSmith-Lemli-Opitz syndrome ()
........expandTay-Sachs disease ()
........expandthiopurine S-methyltransferase deficiency ()
........expandvitamin D hydroxylation-deficient rickets, type 1B ()



 Sister Nodes: 
..expandcytokine deficiency ()
..expanddisease of catalytic activity ()
..expanddisease of receptor activity ()
..expanddisease of transporter activity ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:44976
Name:disease of catalytic activity
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:enzyme disorder; enzymopathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal