loading...| Preferred Name |
Aspartylglucosaminuria |
| ID |
http://www.orpha.net/ORDO/Orphanet_93 |
| alternative_term |
Aspartylglucosaminidase deficiency |
| definition |
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). |
| 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 |
MeSH:D054880 ICD-11:5C56.21 OMIM:208400 MeSH:C538402 UMLS:C0268225 ICD-10:E77.1 MedDRA:10068220 |
| label |
Aspartylglucosaminuria |
| notation |
ORPHA:93 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_225681 http://www.orpha.net/ORDO/Orphanet_68385 |
| prefixIRI |
ORDO:Orphanet_93 |
| prefLabel |
Aspartylglucosaminuria |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 3.35 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_225681 http://www.orpha.net/ORDO/Orphanet_68385 |
| subClassOf |