Terminology Service for NFDI4Health
Niemann-Pick Diseases
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http://purl.bioontology.org/ontology/MESH/D009542
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.
Term info
Label
Niemann-Pick Diseases
Synonyms
- Morbus Niemann-Pick (DE)
- Niemann Pick Disease
- Niemann Pick Diseases
- Niemann-Pick Disease
- Niemann-Pick-Krankheit (DE)
- Niemann-Pick-Krankheiten (DE)
AN
note specific types 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
DC
1
DX
20000101
FX
D013108, D012618
HN
2000(1966)
MDA
19990101
MMR
20130708
MN
C15.604.250.410.625, C18.452.648.398.641.803.730, C18.452.584.687.803.730, C18.452.648.189.435.825.700, C18.452.132.100.435.825.700, C10.228.140.163.100.435.825.700, C16.320.565.189.435.825.700, C16.320.565.398.641.803.730, C16.320.565.595.554.825.700, C18.452.648.595.554.825.700
PM
2000; see NIEMANN-PICK DISEASE 1966-1999
QB
http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503
RO
http://purl.bioontology.org/ontology/MESH/D012618, http://purl.bioontology.org/ontology/MESH/D013108
SIB
http://purl.bioontology.org/ontology/MESH/D000795, http://purl.bioontology.org/ontology/MESH/D014972, http://purl.bioontology.org/ontology/MESH/D051359, http://purl.bioontology.org/ontology/MESH/D055577, http://purl.bioontology.org/ontology/MESH/D012618, http://purl.bioontology.org/ontology/MESH/D015618, http://purl.bioontology.org/ontology/MESH/D005776, http://purl.bioontology.org/ontology/MESH/D031249, http://purl.bioontology.org/ontology/MESH/D007965, http://purl.bioontology.org/ontology/MESH/D052516, http://purl.bioontology.org/ontology/MESH/D005733
TERMUI
T365793, T028436
TH
GHR (2014), ORD (2010), NLM (2000), NLM (1966)
cui
C0028064
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C567267, http://purl.bioontology.org/ontology/MESH/C564366, http://purl.bioontology.org/ontology/MESH/C567268
tui
T047