loading...| Preferred Name |
alpha-Mannosidosis |
|
| Synonyms |
alpha-D-Mannosidase Deficiency, Lysosomal |
|
| Definitions |
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D008363 |
|
| altLabel |
alpha-D-Mannosidase Deficiency, Lysosomal Mannosidosis, alpha B, Lysosomal Mannosidosis, alpha B Lysosomal Lysosomal alpha-D-Mannosidase Deficiency Lysosomal Alpha B Mannosidosis Alpha-Mannosidase B Deficiency Alpha-D-Mannosidosis alpha Mannosidase Deficiency Lysosomal alpha-D-Mannosidase Deficiencies Alpha-Mannosidosis, Type I Deficiencies, alpha-Mannosidase alpha-Mannosidoses Deficiency, alpha-Mannosidase Deficiency, Lysosomal alpha-D-Mannosidase Deficiencies, Lysosomal alpha-D-Mannosidase Lysosomal alpha D Mannosidase Deficiency alpha-Mannosidase Deficiencies alpha Mannosidase B Deficiency alpha-Mannosidase Deficiency alpha Mannosidosis alpha-D-Mannosidase Deficiencies, Lysosomal |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0024748 |
|
| DC |
1 |
|
| definition |
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
|
| DX |
19850101 |
|
| FX |
D043323 |
|
| HN |
2004(1985) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2004; see MANNOSIDOSIS 1984-2003 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C536585 |
|
| MDA |
19840529 |
|
| MMR |
20130708 |
|
| MN |
C18.452.648.595.577.500 C18.452.648.202.607.500 C16.320.565.202.607.500 C16.320.565.595.577.500 |
|
| notation |
D008363 |
|
| prefLabel |
alpha-Mannosidosis |
|
| TERMUI |
T840865 T534621 T751402 T840864 T534637 T811735 T751403 T534705 T811736 T751318 |
|
| TH |
OMIM (2013) NLM (2004) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |