Communities
- Amino acid metabolism disorders
- --- Multiple glycan binding disorder
- --- Disorder of amino acid absorption and transport
- --- Disorder of asparagine metabolism
- --- Disorder of beta and omega amino acid metabolism
- --- Disorder of branched-chain amino acid metabolism
- --- Disorder of glutamine metabolism
- --- Disorder of histidine metabolism
- --- Disorder of lysine and hydroxylysine metabolism
- --- Disorder of melanin metabolism
- --- Disorder of methionine cycle and sulfur amino acid metabolism
- --- Disorder of ornithine or proline metabolism
- --- Disorder of peptide metabolism
- --- Disorder of phenylalanine or tyrosine metabolism
- --- Disorder of serine or glycine metabolism
- --- Disorder of the gamma-glutamyl cycle
- --- Disorder of tryptophan metabolism
- --- Disorder of urea cycle metabolism and ammonia detoxification
- --- Organic aciduria
- --- Severe primary trimethylaminuria
- Urea cycle metabolism disorders
- carbohydrate metabolism disorders
- --- Disorder of carbohydrate absorption and transport
- --- Disorder of fructose metabolism
- --- Disorder of galactose metabolism
- --- Disorder of glycerol metabolism
- --- Disorder of glycolysis
- --- Disorder of glyoxylate metabolism
- --- Disorders of pentose/polyol metabolism
- --- Gluconeogenesis disorder
- --- Glycogen storage disease
- Congenital disorder of glycosylation
- --- Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- --- Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- --- Disorder of multiple glycosylation
- --- Disorder of protein N-glycosylation
- --- Disorder of protein O-glycosylation
- --- Disorder of multiple glycosylation
- Disorder of biogenic amine metabolism and transport
- --- Disorder of gamma-aminobutyric acid metabolism
- --- Disorder of neurotransmitter metabolism and transport
- --- Disorder of pyridoxine metabolism
- --- Metabolic disease involving other neurotransmitter deficiency
- Disorder of energy metabolism
- --- Creatine deficiency syndrome
- --- Disorder of fatty acid oxidation and ketone body metabolism
- --- Mitochondrial disease
- --- Pyruvate metabolism disorder
- --- Tricarboxylic acid cycle disorder
- Disorder of lipid metabolism
- --- Disorder of lipid absorption and transport
- --- Disorder of phospholipids, sphingolipids, and fatty acids biosynthesis
- --- Sterol metabolism disorder
- Disorder of lysosomal-related organelles
- --- Chediak-Higashi syndrome
- --- Haim-Munk syndrome
- --- Hermansky-Pudlak syndrome
- --- Papillon-Lefèvre syndrome
- --- RBSNProgr essive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
- Disorder of metabolite absorption and transport
- --- Disorder of mineral absorption and transport
- --- Disorder of vitamin and non-protein cofactor absorption and transport
- Disorder of porphyrin and heme metabolism
- --- Disorder of bilirubin metabolism and excretion
- --- Heme oxygenase-1 deficiency
- --- Porphyria
- --- X-linked sideroblastic anemia
- Disorder of purine or pyrimidine metabolism
- --- Disorder of purine metabolism
- --- Disorder of pyrimidine metabolism
- Lysosomal disease
- --- Autosomal recessive spastic paraplegia type 48
- --- Disorder of lysosomal amino acid transport
- --- Disorder of sialic acid metabolism
- --- Glycoproteinosis
- --- Lysosomal acid phosphatase deficiency
- --- Lysosomal glycogen storage disease
- --- Mucopolysaccharidosis
- --- Neuronal ceroid lipofuscinosis
- --- Pycnodysostosis
- --- Sphingolipidosis
- Other metabolic disease
- --- Alacrimia-choreoathetosis-liver dysfunction syndrome
- --- Alpha-1-antitrypsin deficiency
- --- Autosomal dominant myoglobinuria
- --- Brachytelephalangic chondrodysplasia punctata
- --- Congenital isolated hyperinsulinism
- --- Genetic recurrent myoglobinuria
- --- Hemolytic anemia due to diphosphoglycerate mutase deficiency
- --- Hypotonia-failure to thrive-microcephaly syndrome
- --- NAD(P)HX dehydratase deficiency
- --- NAD(P)HX epimerase deficiency
- Peroxisomal disease
- --- PEX10 Autosomal recessive ataxia due to PEX10 deficiency
- --- PEX16 Autosomal recessive ataxia due to PEX16 deficiency
- --- PEX2 Autosomal recessive ataxia due to PEX2 deficiency
- --- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- --- CADDS (CADDS syndrome)
- --- Disorder of peroxisomal alpha-, beta- and omega-oxidation
- --- Disorder of plasmalogens biosynthesis
- --- Peroxisome biogenesis disorder
- Birt-Hogg-Dubé syndrome
- Carpenter syndrome
- Complex lethal osteochondrodysplasia
- Greig cephalopolysyndactyly syndrome
- Greig cephalopolysyndactyly-contiguous gene syndrome
- Hydrolethalus
- NEK9 NEK9-related lethal skeletal dysplasia
- Oculoskeletodental syndrome
- Oral-facial-digital syndrome with short stature and brachymesophalangy
- Renal ciliopathy
- Retinal ciliopathy
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Angelman syndrome
- Beckwith-Wiedemann syndrome
- Kagami-Ogata syndrome
- MAGEL2-related Prader-Willi-like syndrome
- Prader-Willi syndrome
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pseudopseudohypoparathyroidism
- Silver-Russell syndrome
- Temple syndrome
- Transient neonatal diabetes mellitus
