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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
AICA-ribosiduria 
ALDH18A1-related de Barsy syndrome 
arthrogryposis-renal dysfunction-cholestasis syndrome 
autism spectrum disorder - epilepsy - arthrogryposis syndrome 
autosomal recessive cutis laxa type 2 +  
B4GALT1-congenital disorder of glycosylation 
CADDS 
CHIME syndrome 
classic homocystinuria 
Cockayne syndrome +  
COG1-congenital disorder of glycosylation 
COG7-congenital disorder of glycosylation 
congenital disorder of deglycosylation 1 
creatine transporter deficiency 
cutis laxa, autosomal dominant 3 
disorder of carbohydrate transmembrane transport and absorption +  
disorder of fructose metabolism +  
disorder of galactose and fructose metabolism +  
disorder of galactose metabolism +  
disorder of gluconeogenesis +  
disorder of glycogen metabolism +  
disorder of glycolysis +  
disorders of pentose/polyol metabolism +  
Ehlers-Danlos syndrome, musculocontractural type 
Ehlers-Danlos syndrome, spondylodysplastic type +  
encephalopathy due to sulfite oxidase deficiency +  
Fabry disease 
Fanconi anemia +  
glucosephosphate dehydrogenase deficiency 
glycosylphosphatidylinositol biosynthesis defect 15 
hyperinsulinemic hypoglycemia +  
hyperphosphatasia-intellectual disability syndrome 
hypophosphatasia +  
inborn mitochondrial metabolism disorder +  
lactose intolerance +  
Larsen-like syndrome, B3GAT3 type 
mandibuloacral dysplasia +  
MGAT2-congenital disorder of glycosylation 
mucolipidosis +  
mucopolysaccharidosis +  
mucopolysaccharidosis-plus syndrome 
mucosulfatidosis 
multiple carboxylase deficiency +  
multiple congenital anomalies-hypotonia-seizures syndrome 1 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
Neu-Laxova syndrome +  
Nijmegen breakage syndrome 
Nijmegen breakage syndrome-like disorder 
occipital horn syndrome 
oligosaccharidosis +  
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
Peters plus syndrome 
pontocerebellar hypoplasia type 1 
primary hyperoxaluria +  
pseudohypoparathyroidism +  
pyruvate dehydrogenase deficiency +  
RFT1-congenital disorder of glycosylation 
SHORT syndrome 
SLC35A2-congenital disorder of glycosylation 
SLC39A8-CDG 
SSR4-congenital disorder of glycosylation 
sterol biosynthesis disorder +  
temtamy preaxial brachydactyly syndrome 
transketolase deficiency 
Wiedemann-Rautenstrauch syndrome 
XYLT1-congenital disorder of glycosylation 
Zellweger spectrum disorders +  

Synonyms
Alternate IDs: MONDO:0019251
Xrefs: GARD:18977 ;   MEDGEN:1787409 ;   ORDO:79215 ;   UMLS:C5547641 ;   icd11.foundation:1805681916

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