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Ontology Browser
Term:
developmental anomaly of metabolic origin (EFO:MONDO:0015327)
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
abdominal wall malformation +  
acquired metabolic disease +   
ALG13-CDG 
amino acid metabolism disease +   
amino-acid transport disorder 
angioosteohypertrophic syndrome 
ankyloblepharon filiforme-imperforate anus syndrome 
anotia 
Autism spectrum disorder-epilepsy-arthrogryposis syndrome 
Autosomal dominant primary hypomagnesemia with hypocalciuria 
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 
Becker nevus syndrome +  
bilirubin metabolism disease +   
blindness - scoliosis - arachnodactyly syndrome 
bone fragility with contractures, arterial rupture, and deafness 
carbohydrate metabolism disease +   
central nervous system malformation +  
chondrocalcinosis +  
CHST3-related skeletal dysplasia 
Chédiak-Higashi syndrome 
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 
cleft palate +  
congenital anomaly of kidney and urinary tract +  
Congenital atransferrinemia 
Congenital dyserythropoietic anemia type II 
congenital limb malformation +   
Congenital muscular dystrophy, Fukuyama type 
cutis laxa +  
cutis laxa - Marfanoid syndrome 
cysts and fistulae of the face and oral cavity +  
Desbuquois dysplasia +  
developmental anomaly of metabolic origin +  
developmental defect of the eye +   
diabetic nephropathy +   
diabetic retinopathy +   
digestive tract malformation +  
disorder of acid-base balance +   
Disorder of amino acid and other organic acid metabolism +  
Disorder of biogenic amine metabolism and transport +  
Disorder of carbohydrate metabolism +  
Disorder of energy metabolism +  
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +  
disorder of glycosylation +  
Disorder of lipid metabolism +   
disorder of organic acid metabolism +  
Disorder of porphyrin and haem metabolism +  
Disorder of purine or pyrimidine metabolism +   
disorder of sexual differentiation +  
Disorder of vitamin and non-protein cofactor absorption and transport  +  
Distal myopathy, Nonaka type 
dopa-responsive dystonia +  
DPM1-CDG 
Ehlers-Danlos syndrome +  
Ehlers-Danlos syndrome, progeroid type 
facial cleft +  
focal dermal hypoplasia 
FTH1-related iron overload 
glucose metabolism disease +   
glutaric aciduria +  
gout +   
hemihyperplasia-multiple lipomatosis syndrome 
hemochromatosis 
hepatic methionine adenosyltransferase deficiency 
hereditary hemorrhagic telangiectasia +  
hereditary neurocutaneous angioma 
hydrops fetalis +  
hyperamylasemia 
hyperlipidemia +   
hyperlipoproteinemia +   
hyperprolactinemia +  
Hypertriglyceridemia +   
hypoalphalipoproteinemia +  
inborn errors of metabolism +   
infectious embryofetopathy +  
joint laxity, short stature, and myopia 
lactic acidosis +  
Larsen syndrome 
Legius syndrome 
lethal Larsen-like syndrome 
linear nevus sebaceous syndrome 
lipodystrophy +  
Lysosomal disease +  
macroglossia +  
Maffucci syndrome 
marfanoid habitus-inguinal hernia-advanced bone age syndrome 
metabolic syndrome  
metabolic toxicity 
methylmalonic aciduria (cobalamin deficiency) cblA type 
microtia 
mineral metabolism disease +   
multiple congenital anomalies/dysmorphic syndrome +   
muscular dystrophy, congenital, with cataracts and intellectual disability 
neurofibromatosis type 1 +  
neurofibromatosis-Noonan syndrome +  
nevoid basal cell carcinoma syndrome 
nutritional disorder +   
Other metabolic disease +  
Papillon-Lefèvre syndrome 
Peroxisomal beta-oxidation disorder +  
peroxisome biogenesis disorder, complementation group 7 
Peroxisome biogenesis disorder-Zellweger syndrome spectrum +  
phakomatosis pigmentokeratotica 
phakomatosis pigmentovascularis +  
porphyrin metabolism disease +  
Primary hypomagnesemia with secondary hypocalcemia 
progeroid syndrome +  
proteostasis deficiencies +   
pseudodiastrophic dysplasia 
PTEN hamartoma tumor syndrome +  
purine metabolism disease +  
pyrimidine metabolism disease +  
Rare hereditary hemochromatosis 
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 
Refsum disease 
schwannomatosis +  
steroid dehydrogenase deficiency-dental anomalies syndrome 
steroid metabolism disease +  
toxic or drug-related embryofetopathy +  
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +  
Tumor Lysis Syndrome 
urogenital tract malformation +   
x-linked warfarin sensitivity 
xanthinuria +  
xanthoma 
 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 
 creatine transporter deficiency 
 cutis laxa, autosomal dominant 3 
 Ehlers-Danlos syndrome, musculocontractural type 
 Ehlers-Danlos syndrome, spondylodysplastic type +  
 encephalopathy due to sulfite oxidase deficiency +  
 Fabry disease 
 Fanconi anemia +  
 glycosylphosphatidylinositol biosynthesis defect 15 
 hyperphosphatasia-intellectual disability syndrome 
 hypophosphatasia +  
 inborn mitochondrial metabolism disorder +  
 Larsen-like syndrome, B3GAT3 type 
 mandibuloacral dysplasia +  
 MGAT2-congenital disorder of glycosylation 
 mucolipidosis +  
 mucopolysaccharidosis +  
 mucopolysaccharidosis-plus syndrome 
 mucosulfatidosis 
 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 
 pseudohypoparathyroidism +  
 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:0015327
Xrefs: GARD:19900 ;   MEDGEN:1826093 ;   ORDO:139009 ;   UMLS:C5680623

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