Preferred Name |
Aspartylglucosaminuria |
|
Synonyms |
Aspartylglucosaminidase deficiency |
|
Definitions |
A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_93 |
|
alternative_term |
Aspartylglucosaminidase deficiency |
|
definition |
A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 |
|
has_age_of_onset |
Childhood |
|
has_inheritance |
Autosomal recessive |
|
hasDbXref |
ICD-11:5C56.21 UMLS:C0268225 MedDRA:10068220 MeSH:D054880 OMIM:208400 ICD-10:E77.1 |
|
label |
Aspartylglucosaminuria |
|
notation |
ORPHA:93 |
|
part_of |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_611314 |
|
prefixIRI |
ORDO:Orphanet_93 |
|
prefLabel |
Aspartylglucosaminuria |
|
present_in |
Australia AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 Sweden AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Finland AND has_birth_prevalence_average_value : 3.35 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_611314 |
|
subClassOf |