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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Gaucher disease perinatal lethal | |
| Synonyms |
GDPL |
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| Definitions |
(GDPL) - Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. |
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| ID |
http://identifiers.org/omim/608013 |
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| altLabel |
GDPL
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| definition |
(GDPL) - Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
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| id |
OMIM:608013
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| notation |
OMIM:608013
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| prefLabel |
Gaucher disease perinatal lethal
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| subClassOf |
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