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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
abdominal obesity-metabolic syndrome +   
achondrogenesis type IB 
apolipoprotein c-III deficiency 
aromatase excess syndrome 
ASAH1-related disorders +  
atelosteogenesis type II 
autosomal dominant dopa-responsive dystonia +  
autosomal dominant myoglobinuria 
autosomal dominant proximal renal tubular acidosis 
autosomal recessive proximal renal tubular acidosis 
chondrocalcinosis 2 
chondrodysplasia with joint dislocations, gPAPP type 
congenital disorder of deglycosylation +  
congenital disorder of glycosylation +  
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 
diastrophic dysplasia 
disorder of lysosomal-related organelles +  
disorder of metabolite absorption and transport +   
disorder of peptide and amine metabolism +  
DNA repair deficiency +  
Ehlers-Danlos syndrome, spondylodysplastic type +  
familial hypocalciuric hypercalcemia +  
familial hypoparathyroidism +  
familial intrahepatic cholestasis +  
ferro-cerebro-cutaneous syndrome 
fish eye disease 
gluthathione peroxidase deficiency 
glycoprotein metabolism disease +  
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hereditary amyloidosis +   
hereditary lipodystrophy +  
hereditary recurrent myoglobinuria +  
hypercalcemia, infantile +  
hypermanganesemia with dystonia +  
hypertriglyceridemia 2 
hypoalphalipoproteinemia, primary, 1 
hypophosphatasia +  
hypotonia-failure to thrive-microcephaly syndrome 
inborn aminoacylase deficiency +  
inborn carbohydrate metabolic disorder +   
inborn disorder of amino acid and other organic acid metabolism +  
inborn disorder of amino acid metabolism +   
inborn disorder of biogenic amine metabolism and transport +  
inborn disorder of energy metabolism +  
inborn disorder of porphyrin metabolism +  
inborn disorder of purine or pyrimidine metabolism +  
inborn glycerol kinase deficiency +  
inborn metal metabolism disorder +   
inherited lipid metabolism disorder +   
inherited thyroid metabolism disease +  
lysosomal storage disease +   
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
monogenic diabetes +  
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +  
multiple epiphyseal dysplasia type 4 
NAD(P)HX dehydratase deficiency 
neurodegeneration with brain iron accumulation +  
normophosphatemic familial tumoral calcinosis 
peroxisomal disease +  
plasma protein metabolism disease +   
polysyndactyly 4 +  
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 
spondyloepimetaphyseal dysplasia, PAPSS2 type 
spondyloepiphyseal dysplasia with congenital joint dislocations 
sulfation-related bone disorder 
sulfide quinone oxidoreductase deficiency 
synucleinopathy +   
thiopurine metabolic disease +  
tumoral calcinosis, hyperphosphatemic, familial, 2 
tumoral calcinosis, hyperphosphatemic, familial, 3 
uridine-cytidineuria 
vitamin metabolic disorder +  
Waldenstrom macroglobulinemia  

Synonyms
Exact Synonyms: DOID:3211 ;   NCIT:C61250 ;   Orphanet:68366 ;   disorder of lysosomal enzyme ;   disorder of lysosomal enzymes ;   http://identifiers.org/medgen/43098 ;   http://identifiers.org/mesh/D016464 ;   http://identifiers.org/snomedct/23585005 ;   http://identifiers.org/snomedct/28821000119102 ;   http://linkedlifedata.com/resource/umls/id/C0085078
Related Synonyms: phospholipidosis
Alternate IDs: MONDO:0002561
Xrefs: DOID:3211 ;   GARD:18884 ;   MEDGEN:43098 ;   MESH:D016464 ;   NANDO:1200055 ;   NANDO:2100165 ;   NCI:C61250 ;   ORDO:68366 ;   SCTID:23585005 ;   SCTID:28821000119102
External Ontologys: disease_has_basis_in_dysfunction_of EFO:GO:0005764
Definition Sources: PMID:21723623

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