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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Niemann-Pick disease type C1 | |
| Synonyms |
NPC1 |
|
| Definitions |
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0070113 |
|
| alternative label |
NPC1
|
|
| database_cross_reference |
OMIM:257220 ICD10CM:E75.2 GARD:7207
|
|
| definition |
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
|
|
| disease has basis in | ||
| has exact synonym |
NPC1
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0070113
|
|
| in_subset | ||
| label |
Niemann-Pick disease type C1
|
|
| notation |
DOID:0070113
|
|
| note |
A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
|
|
| preferred label |
Niemann-Pick disease type C1
|
|
| prefLabel |
Niemann-Pick disease type C1
|
|
| subClassOf |
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