Hyperthreoninemia
Symptom Information:
Symptom ID: | HPO:0003354 | ||||
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 carboxylic acid metabolism(HPO:0004354) Abnormality of amino acid metabolism(HPO:0004337) Abnormality of aspartate family amino acid metabolism(HPO:0010899) Abnormality of threonine metabolism(HPO:0010900) Hyperthreoninemia(HPO:0003354) Abnormality of serum amino acid levels(HPO:0003112) Hyperthreoninemia(HPO:0003354) MedDRA: |
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Database Frequency: | 3 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
Leber congenital amaurosis 1 | (OMIM:204000) |
Neonatal intrahepatic cholestasis due to citrin deficiency | (Orphanet:247598) |
THREONINEMIA | (OMIM:273770) |