loading...| Preferred Name |
Sphingolipidoses |
|
| Synonyms |
Storage Disease, Sphingolipid Sphingolipid Storage Disease |
|
| Definitions |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D013106 |
|
| altLabel |
Storage Disease, Sphingolipid Storage Diseases, Sphingolipid Sphingolipid Storage Diseases Sphingolipidosis Sphingolipid Storage Disease |
|
| AN |
general or unspecified; prefer specifics |
|
| 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 |
C0037899 |
|
| DC |
1 |
|
| definition |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
|
| DX |
19740101 |
|
| HN |
1992(1974) |
|
| 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 |
|
| Machine permutation |
1992; see SPHINGOLIPIDOSIS 1974-91 |
|
| MDA |
19990101 |
|
| MMR |
20210701 |
|
| MN |
C16.320.565.595.554.825 C18.452.132.100.435.825 C18.452.648.189.435.825 C10.228.140.163.100.435.825 C18.452.648.595.554.825 C18.452.648.398.641.803 C18.452.584.563.641.803 C16.320.565.398.641.803 C16.320.565.189.435.825 |
|
| notation |
D013106 |
|
| prefLabel |
Sphingolipidoses |
|
| TERMUI |
T370372 T038571 T038570 |
|
| TH |
NLM (2000) NLM (1992) NLM (1974) |
|
| tui |
T047 |
|
| subClassOf |