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Ontology Browser

Term:
aspartylglucosaminuria (DOID:0050461)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
genetic disease +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
beta-mannosidosis  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
cystinosis +   
Danon disease  
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
galactosialidosis  
Genetic Skin Diseases +   
Glutamyl Ribose-5-Phosphate Storage Disease 
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
lipid storage disease +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
Marfan syndrome +   
monogenic disease +   
mucopolysaccharidosis +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
pycnodysostosis  
Sacral Agenesis with Vertebral Anomalies  
Schindler Disease, Type I  
Vacuolar Myopathy  
yellow nail syndrome +  

Synonyms
Exact Synonyms: AGA deficiencies ;   AGA deficiency ;   AGU ;   aspartylglucosamidase (AGA) deficiency ;   aspartylglucosamidase deficiencies ;   aspartylglucosamidase deficiency ;   aspartylglucosaminidase deficiency ;   aspartylglucosaminuria, Finnish type ;   aspartylglucosaminurias ;   aspartylglycosaminuria ;   aspartylglycosaminuria, Finnish type ;   aspartylglycosaminurias ;   glycoasparaginase ;   glycoasparaginases ;   glycosylasparaginase deficiency
Primary IDs: MESH:D054880
Alternate IDs: MESH:C538402 ;   OMIM:208400
Xrefs: GARD:5854 ;   NCI:C61273
Definition Sources: https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria "DO"

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