Decreased pyruvate carboxylase activity
Symptom Information:
Symptom ID: | HPO:0003209 | ||
Synonyms: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of Krebs cycle metabolism(HPO:0000816) Decreased pyruvate carboxylase activity(HPO:0003209) MedDRA: |
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Database Frequency: | 5 / 7739 | ||
Resource: |
All diseases associated with this symptom:
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED | (OMIM:302900) |
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA | (OMIM:229310) |
Friedreich ataxia 1 | (OMIM:229300) |
Friedreich ataxia 2 | (OMIM:601992) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |