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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| 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 |
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