Gaucher's disease type I
(Q32145230)
Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22
Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22
Language:
Current Data About
Gaucher's disease type I
| (P31) |
(Q112193867)
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| (P279) |
(Q861645)
(Q200779)
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| (P2293) |
(Q14878770)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0110957
http://identifiers.org/doid/DOID:0110957
http://www.orpha.net/ORDO/Orphanet_77259 |
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| (P5008) |
(Q4099686)
|
other details
| aliases |
Acid Beta-Glucosidase Deficiency Gba Deficiency Gaucher Disease, Noncerebral Juvenile GD I Glucocerebrosidase Deficiency |
| description | Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22 |
External Links
| (P492) |
230800
|
| (P699) |
DOID:0110957
|
| (P1550) |
77259
|
| (P2892) |
C1961835
|
| (P4229) |
E75.2
|
| (P4317) |
2441
|
| (P5270) |
MONDO_0009265
|
| (P11430) |
DI-01647
|