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Experimental Factor Ontology
| Preferred Name | Niemann-Pick disease type A | |
| Synonyms |
sphingomyelinase deficiency Niemann-Pick disease, Intermediate, protracted neurovisceral Niemann-PICK disease, type A sphingomyelin lipidosis |
|
| Definitions |
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009756 |
|
| database_cross_reference |
DOID:0070111 MESH:D052536 MEDGEN:78650 Orphanet:77292 NANDO:2201206 icd11.foundation:530611243 NANDO:1200061 NCIT:C126561 SCTID:52165006 UMLS:C0268242 OMIM:257200 GARD:7206
|
|
| definition |
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
|
|
| exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/530611243 http://purl.obolibrary.org/obo/NCIT_C126561 http://www.orpha.net/ORDO/Orphanet_77292 http://linkedlifedata.com/resource/umls/id/C0268242 http://identifiers.org/snomedct/52165006 http://identifiers.org/medgen/78650 |
|
| has_related_synonym |
sphingomyelinase deficiency Niemann-Pick disease, Intermediate, protracted neurovisceral Niemann-PICK disease, type A sphingomyelin lipidosis
|
|
| IAO_0000233 | ||
| id |
MONDO:0009756
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Niemann-Pick disease type A
|
|
| notation |
MONDO:0009756
|
|
| preferred label |
Niemann-Pick disease type A
|
|
| prefLabel |
Niemann-Pick disease type A
|
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 |
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