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Cell Culture Ontology
| Preferred Name | Niemann-Pick disease type B | |
| Synonyms |
Niemann-Pick disease, type F Niemann Pick disease type B Niemann-Pick disease, type E Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression Niemann-PICK disease, type B type B Niemann-Pick disease |
|
| Definitions |
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011871 |
|
| database_cross_reference |
icd11.foundation:327269975 Orphanet:77293 SCTID:39390005 NCIT:C126866 OMIM:607616 NANDO:2201207 NANDO:1200062 DOID:0070112 ICD10CM:E75.241 UMLS:C0268243 MEDGEN:78651 MESH:D052537 GARD:10729
|
|
| definition |
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
|
|
| has_exact_synonym |
type B Niemann-Pick disease
|
|
| has_related_synonym |
Niemann-Pick disease, type F Niemann Pick disease type B Niemann-Pick disease, type E Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression Niemann-PICK disease, type B
|
|
| IAO_0000233 | ||
| id |
MONDO:0011871
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Niemann-Pick disease type B
|
|
| notation |
MONDO:0011871
|
|
| preferred label |
Niemann-Pick disease type B
|
|
| prefLabel |
Niemann-Pick disease type B
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_77293 http://purl.obolibrary.org/obo/NCIT_C126866 http://linkedlifedata.com/resource/umls/id/C0268243 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/327269975 http://identifiers.org/snomedct/39390005 http://purl.bioontology.org/ontology/ICD10CM/E75.241 http://identifiers.org/medgen/78651 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100464 http://purl.obolibrary.org/obo/MONDO_0017014 |
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