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Medical Subject Headings
| Preferred Name | Niemann-Pick Diseases | |
| Synonyms |
ASM-Deficient Niemann-Pick Diseases Deficiencies, Acid Sphingomyelinase Diseases, ASM-Deficient Niemann-Pick Niemann-Pick Diseases, ASM-Deficient Niemann-Pick Disease Niemann-Pick Disease, ASM-Deficient ASM Deficiencies ASM Deficient Niemann Pick Disease Disease, ASM-Deficient Niemann-Pick Acid Sphingomyelinase-deficient Niemann-Pick Disease Acid Sphingomyelinase deficient Niemann Pick Disease Niemann Pick Diseases Acid Sphingomyelinase Deficiency Deficiency, Acid Sphingomyelinase Deficiencies, ASM Niemann Pick Disease Sphingomyelinase Deficiency, Acid Sphingomyelinase Deficiencies, Acid Deficiency, ASM ASM Deficiency ASM-Deficient Niemann-Pick Disease |
|
| Definitions |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009542 |
|
| altLabel |
ASM-Deficient Niemann-Pick Diseases Deficiencies, Acid Sphingomyelinase Diseases, ASM-Deficient Niemann-Pick Niemann-Pick Diseases, ASM-Deficient Niemann-Pick Disease Niemann-Pick Disease, ASM-Deficient ASM Deficiencies ASM Deficient Niemann Pick Disease Disease, ASM-Deficient Niemann-Pick Acid Sphingomyelinase-deficient Niemann-Pick Disease Acid Sphingomyelinase deficient Niemann Pick Disease Niemann Pick Diseases Acid Sphingomyelinase Deficiency Deficiency, Acid Sphingomyelinase Deficiencies, ASM Niemann Pick Disease Sphingomyelinase Deficiency, Acid Sphingomyelinase Deficiencies, Acid Deficiency, ASM ASM Deficiency ASM-Deficient Niemann-Pick Disease
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|
| AN |
note specific types are available
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|
| 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 |
C0028064 C5243927 C5828533
|
|
| DC |
1
|
|
| definition |
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
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|
| DX |
20000101
|
|
| FX |
D013108 D012618
|
|
| HN |
2000(1966)
|
|
| 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 |
2000; see NIEMANN-PICK DISEASE 1966-1999
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|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564366 |
|
| MDA |
19990101
|
|
| MMR |
20230531
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|
| MN |
C18.452.648.595.554.825.700 C16.320.565.398.641.803.730 C18.452.648.398.641.803.730 C15.604.250.410.625 C10.228.140.163.100.435.825.700 C16.320.565.189.435.825.700 C16.320.565.595.554.825.700 C18.452.648.189.435.825.700 C18.452.132.100.435.825.700 C18.452.584.563.641.803.730
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|
| notation |
D009542
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|
| prefLabel |
Niemann-Pick Diseases
|
|
| TERMUI |
T365793 T001134177 T028436 T001124736 T001124738 T001124733
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|
| TH |
NLM (2000) NLM (1966) NLM (2024) GHR (2014) ORD (2010)
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|
| tui |
T047
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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