loading...| Preferred Name |
Gaucher disease |
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| Synonyms |
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| Definitions |
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance. |
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| ID |
http://purl.bioontology.org/ontology/LNC/LA14039-4 |
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| Answer to |
http://purl.bioontology.org/ontology/LNC/57719-7 http://purl.bioontology.org/ontology/LNC/62302-5 |
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| cui |
C0017205 |
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| definition |
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance. |
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| notation |
LA14039-4 |
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| prefLabel |
Gaucher disease |
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| tui |
T047 |