Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Ontology Browser
Term:
inborn carbohydrate metabolic disorder (EFO:MONDO:0019214)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +  
abdominal obesity-metabolic syndrome +  
achondrogenesis type IB 
acquired carbohydrate metabolism disease 
apolipoprotein c-III deficiency 
aromatase excess syndrome 
ASAH1-related disorders +  
atelosteogenesis type II 
autosomal dominant myoglobinuria 
autosomal dominant proximal renal tubular acidosis 
autosomal recessive proximal renal tubular acidosis 
carbohydrate transport disease +  
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 +  
hypoalphalipoproteinemia, primary, 1 
hypophosphatasia +  
hypotonia-failure to thrive-microcephaly syndrome 
inborn aminoacylase deficiency +  
inborn carbohydrate metabolic disorder +  
An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.
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 +  
intestinal disaccharide deficiency and disaccharide malabsorption +  
lysosomal storage disease +   
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 
scurvy 
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: carbohydrate metabolism disorder ;   disorder of carbohydrate transport and metabolism ;   inborn carbohydrate metabolic process disorder ;   inborn carbohydrate metabolism disorder ;   inborn error of carbohydrate metabolic process ;   inborn errors of carbohydrate metabolism ;   rare inborn error of carbohydrate metabolic process
Related Synonyms: carbohydrate metabolic disorder ;   disorder of carbohydrate metabolism
Alternate IDs: MONDO:0019214
Xrefs: DOID:2978 ;   GARD:18946 ;   ICD9:271.8 ;   MEDGEN:2825 ;   MESH:D002239 ;   MedDRA:10061023 ;   NANDO:2100164 ;   NCI:C97089 ;   ORDO:79161 ;   UMLS:C0007001
Definition Sources: MONDO:patterns/inborn_metabolic

paths to the root