Preferred Name |
Fumarase deficiency |
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Synonyms |
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Definitions |
(FHD): Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. |
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ID |
http://purl.obolibrary.org/obo/OMIM_606812 |
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definition |
(FHD): Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. |
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has_obo_namespace |
cell_cycle_ontology |
|
id |
OMIM:606812 |
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label |
Fumarase deficiency |
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notation |
OMIM:606812 |
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prefLabel |
Fumarase deficiency |
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treeView | ||
subClassOf |
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