Hyperglutaminemia
Symptom Information:
Symptom ID: | HPO:0003217 | ||||
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 glutamine family amino acid metabolism(HPO:0010902) Abnormality of glutamine metabolism(HPO:0010903) Hyperglutaminemia(HPO:0003217) Abnormality of serum amino acid levels(HPO:0003112) Hyperglutaminemia(HPO:0003217) MedDRA: |
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Database Frequency: | 9 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
ASPARAGINE SYNTHETASE | (OMIM:108370) |
Argininosuccinic aciduria | (Orphanet:23) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Citrullinemia type I | (Orphanet:247525) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | (Orphanet:401948) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |