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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Fumarase deficiency | |
| Synonyms |
FHD |
|
| Definitions |
(FHD) - Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. |
|
| ID |
http://identifiers.org/omim/606812 |
|
| altLabel |
FHD
|
|
| definition |
(FHD) - Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.
|
|
| id |
OMIM:606812
|
|
| notation |
OMIM:606812
|
|
| prefLabel |
Fumarase deficiency
|
|
| subClassOf |
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