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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | GM1 gangliosidosis | |
| Synonyms |
Landing disease GLB1 deficiency Beta-galactosidase-1 deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_643 |
|
| ageOfDeath |
Any age
|
|
| ageOfOnset |
Childhood
|
|
| altLabel |
Landing disease GLB1 deficiency Beta-galactosidase-1 deficiency
|
|
| id_Medline | ||
| id_MeSH |
D016537
|
|
| id_MIM |
230500 230600 230650
|
|
| id_OMS |
E75.1
|
|
| id_Orpha |
354
|
|
| id_SNOMEDCT |
238025006 32917001
|
|
| id_UMLS |
C0085131
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_643
|
|
| prefLabel |
GM1 gangliosidosis
|
|
| prevalence |
Unknown
|
|
| subClassOf |
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