loading...| Preferred Name | Gangliosidoses, GM2 | |
| Synonyms |
Gangliosidoses GM2 GM2 Gangliosidosis GM2 Gangliosidoses GM2, Gangliosidoses G(M2) Gangliosidoses GM2 Gangliosidose Gangliosidosis, GM2 Gangliosidose, GM2 |
|
| Definitions |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020143 |
|
| altLabel |
Gangliosidoses GM2 GM2 Gangliosidosis GM2 Gangliosidoses GM2, Gangliosidoses G(M2) Gangliosidoses GM2 Gangliosidose Gangliosidosis, GM2 Gangliosidose, GM2 |
|
| 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 |
C0268274 |
|
| DC |
1 |
|
| definition |
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. |
|
| DX |
20000101 |
|
| FX |
D001619 |
|
| HN |
2007 (2000) |
|
| 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 |
2007; see GANGLIOSIDOSES GM2 2000-2006 |
|
| MDA |
19991108 |
|
| MMR |
20210701 |
|
| MN |
C16.320.565.595.554.825.300.300 C18.452.648.189.435.825.300.300 C16.320.565.189.435.825.300.300 C18.452.648.595.554.825.300.300 C16.320.565.398.641.803.350.300 C10.228.140.163.100.435.825.300.300 C18.452.132.100.435.825.300.300 C18.452.584.563.641.803.350.300 C18.452.648.398.641.803.350.300 |
|
| notation |
D020143 |
|
| prefLabel |
Gangliosidoses, GM2 |
|
| TERMUI |
T358040 T368291 T368285 T647014 |
|
| TH |
NLM (2000) NLM (2007) |
|
| tui |
T047 |
|
| subClassOf |