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Cell Culture Ontology
| Preferred Name | Niemann-Pick disease | |
| Synonyms |
type A Niemann-Pick disease Sphingomyelinase Deficiency Disease NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK sphingomyelin/cholesterol lipidosis lipoid histiocytosis (classical phosphatide) sphingomyelinase deficiency disease SPHINGOMYELIN LIPIDOSIS lipoid histiocytosis Niemann-Pick disease, subacute juvenile form NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM Niemann-Pick disease sphingomyelin lipidosis Niemann-Pick disease with cholesterol esterification block |
|
| Definitions |
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001380 |
|
| database_cross_reference |
MESH:D009542 MEDGEN:10348 MeSH:D052536 icd11.foundation:398872780 NANDO:2200561 MONDO:0001982 SCTID:58459009 ICD10:E75.24 NCIt:C61269 Wikipedia:Niemann–Pick_disease NCIT:C61269 UMLS:C0028064 MedDRA:10029403 DOID:14504 GARD:13334
|
|
| definition |
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
|
|
| has_exact_synonym |
Sphingomyelinase Deficiency Disease NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK sphingomyelin/cholesterol lipidosis lipoid histiocytosis (classical phosphatide) sphingomyelinase deficiency disease SPHINGOMYELIN LIPIDOSIS lipoid histiocytosis Niemann-Pick disease, subacute juvenile form NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM Niemann-Pick disease sphingomyelin lipidosis Niemann-Pick disease with cholesterol esterification block
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|
| has_narrow_synonym |
type A Niemann-Pick disease
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|
| id |
EFO:1001380
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
Niemann-Pick disease
|
|
| notation |
EFO:1001380
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|
| preferred label |
Niemann-Pick disease
|
|
| prefLabel |
Niemann-Pick disease
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|
| skos_exactMatch |
http://identifiers.org/snomedct/58459009 http://identifiers.org/medgen/10348 http://purl.obolibrary.org/obo/DOID_14504 http://linkedlifedata.com/resource/umls/id/C0028064 http://purl.obolibrary.org/obo/NCIT_C61269 http://identifiers.org/mesh/D009542 http://purl.obolibrary.org/obo/EFO_1001380 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/398872780 |
|
| term editor |
Sirarat Sarntivijai
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015531 |
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