loading...| Preferred Name |
Alpha-Mannosidosis |
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| Synonyms |
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| Definitions |
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036687 |
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| Database_Cross_Reference |
MTH:NOCODE NCI:C84548 SNOMEDCT_US:65524005 CHV:0000007733 OMIM:248500 SNMI:D6-72400 SNOMEDCT_US:124466001 NDFRT:N0000001940 DO:DOID:3413 RCD:C31y3 OMIM:609458 MSH:D008363 |
|
| Definition |
A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. |
|
| label |
Alpha-Mannosidosis |
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| MCID |
MC00007900 |
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| PMOID |
PMO:00036687 |
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| prefixIRI |
pmo:PMO_00036687 |
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| prefLabel |
Alpha-Mannosidosis |
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| Synonym |
alpha-Mannosidase deficiency Deficiencies, alpha-Mannosidase alpha-mannosidosis Alpha-Mannosidosis, Type I alpha-Mannosidosis alpha-Mannosidoses alpha Mannosidase B Deficiency Lysosomal alpha-D-Mannosidase Deficiency Lysosomal Alpha B Mannosidosis Deficiency, alpha-Mannosidase Alpha-mannosidase deficiency alpha-mannosidase deficiency Deficiency, Lysosomal alpha-D-Mannosidase alpha-Mannosidase Deficiencies Deficiencies, Lysosomal alpha-D-Mannosidase alpha-Mannosidosis [Disease/Finding] Lysosomal alpha-D-Mannosidase Deficiencies MANSA alpha mannosidosis Deficiency of alpha-mannosidase (disorder) LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY Lysosomal alpha D Mannosidase Deficiency alpha-D-Mannosidase Deficiencies, Lysosomal deficiency of alpha-mannosidase Alpha-D-mannosidosis alpha-Mannosidase Deficiency Deficiency of alpha-mannosidase alpha-D-Mannosidase Deficiency, Lysosomal Mannosidosis, alpha B Lysosomal Alpha-Mannosidase B Deficiency alpha Mannosidosis MANNOSIDOSIS, ALPHA B, LYSOSOMAL ALPHA-MANNOSIDASE B DEFICIENCY mannosidosis Mannosidosis, alpha B, Lysosomal ALPHA-MANNOSIDOSIS alpha Mannosidase Deficiency Alpha-D-Mannosidosis |
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| Tree Number |
T9.11.1.12.3.6.1 T9.11.1.12.15.7.1 T9.8.4.14.15.7.1 T9.8.4.14.3.6.1 |
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| subClassOf |