loading...| Preferred Name |
Gangliosidoses |
|
| Synonyms |
Ganglioside Storage Disease Gangliosidosis |
|
| Definitions |
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005733 |
|
| altLabel |
Ganglioside Storage Disease Ganglioside Storage Disorder Storage Disorders, Ganglioside Storage Diseases, Ganglioside Ganglioside Storage Diseases Storage Disease, Ganglioside Storage Disorder, Ganglioside Ganglioside Storage Disorders Gangliosidosis |
|
| AN |
coordinate IM with specific ganglioside (IM) but GANGLIOSIDOSIS, GM1 and GANGLIOSIDOSES, GM2 are available |
|
| 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 |
C0017083 |
|
| DC |
1 |
|
| definition |
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. |
|
| DX |
19760101 |
|
| FX |
D009081 |
|
| HN |
1992(1976) |
|
| 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 |
http://purl.bioontology.org/ontology/MESH/D006596 |
|
| Machine permutation |
1992; see GANGLIOSIDOSIS 1976-91 |
|
| MDA |
19750723 |
|
| MMR |
20210701 |
|
| MN |
C16.320.565.189.435.825.300 C18.452.648.595.554.825.300 C18.452.584.563.641.803.350 C18.452.132.100.435.825.300 C16.320.565.595.554.825.300 C18.452.648.398.641.803.350 C18.452.648.189.435.825.300 C16.320.565.398.641.803.350 C10.228.140.163.100.435.825.300 |
|
| notation |
D005733 |
|
| prefLabel |
Gangliosidoses |
|
| TERMUI |
T017315 T017314 T368284 T368283 |
|
| TH |
NLM (2000) NLM (1976) NLM (1992) |
|
| tui |
T047 |
|
| subClassOf |