Hyperphenylalaninemia
Symptom Information:
Symptom ID: | HPO:0004923 | ||
Synonyms: |
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Quality: | |||
Cross references: |
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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 aromatic amino acid family metabolism(HPO:0004338) Abnormality of phenylalanine metabolism(HPO:0010893) Hyperphenylalaninemia(HPO:0004923) MedDRA: |
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Database Frequency: | 7 / 7739 | ||
Resource: |
All diseases associated with this symptom:
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
Dehydratase deficiency | (Orphanet:1578) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
GTP cyclohydrolase I deficiency | (Orphanet:2102) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Neonatal intrahepatic cholestasis due to citrin deficiency | (Orphanet:247598) |
Phenylketonuria | (Orphanet:716) |