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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Gaucher's disease type I | |
| Synonyms |
Glucocerebrosidase Deficiency Gaucher Disease, Noncerebral Juvenile Gba Deficiency Acid Beta-Glucosidase Deficiency GD I GD1 |
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| Definitions |
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110957 |
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| alternative label |
Glucocerebrosidase Deficiency Gaucher Disease, Noncerebral Juvenile Gba Deficiency Acid Beta-Glucosidase Deficiency GD I GD1
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|
| database_cross_reference |
ICD10CM:E75.2 OMIM:230800 ORDO:77259
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|
| definition |
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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| disease has basis in | ||
| has exact synonym |
Glucocerebrosidase Deficiency Gaucher Disease, Noncerebral Juvenile Gba Deficiency Acid Beta-Glucosidase Deficiency GD I GD1
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|
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0110957
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|
| in_subset | ||
| label |
Gaucher's disease type I
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|
| notation |
DOID:0110957
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|
| note |
A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
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|
| preferred label |
Gaucher's disease type I
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|
| prefLabel |
Gaucher's disease type I
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| subClassOf |
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