loading...| Preferred Name |
Alpha-mannosidosis |
|
| Synonyms |
Lysosomal alpha-D-mannosidase deficiency |
|
| Definitions |
An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_61 |
|
| alternative_term |
Lysosomal alpha-D-mannosidase deficiency |
|
| definition |
An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
MedDRA:10083855 ICD-11:5C56.21 MeSH:D008363 UMLS:C0024748 ICD-10:E77.1 OMIM:248500 |
|
| label |
Alpha-mannosidosis |
|
| notation |
ORPHA:61 |
|
| 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_61 |
|
| prefLabel |
Alpha-mannosidosis |
|
| present_in |
Sweden AND has_birth_prevalence_average_value : 0.07 AND has_birth_prevalence_range : <1 / 1 000 000 Czech Republic AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.1 AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_birth_prevalence_average_value : 0.09 AND has_birth_prevalence_range : <1 / 1 000 000 Norway AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79215 http://www.orpha.net/ORDO/Orphanet_93448 http://www.orpha.net/ORDO/Orphanet_611314 |
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| subClassOf |