Abnormality of amino acid metabolism
Symptom Information:
Symptom ID: | HPO:0004337 | |||||||||||||||||||||||
Synonyms: |
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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) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Metabolic and nutritional disorders congenital(MedDRA:10027424) Abnormality of amino acid metabolism(HPO:0004337) Metabolism and nutrition disorders(MedDRA:10027433) Protein and amino acid metabolism disorders NEC(MedDRA:10037008) Amino acid metabolism disorders NEC(MedDRA:10036999) Abnormality of amino acid metabolism(HPO:0004337) Investigations(MedDRA:10022891) Protein and chemistry analyses NEC(MedDRA:10037000) Protein analyses NEC(MedDRA:10036998) Abnormality of amino acid metabolism(HPO:0004337) |
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Database Frequency: | 45 / 7739 | |||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
2p21 microdeletion syndrome | (Orphanet:163693) |
3-hydroxyisobutyric aciduria | (Orphanet:939) |
Alkaptonuria | (Orphanet:56) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Camptodactyly - taurinuria | (Orphanet:1325) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Carnosinemia | (Orphanet:1361) |
Classical phenylketonuria | (Orphanet:79254) |
Cystinosis | (Orphanet:213) |
Cystinuria | (Orphanet:214) |
Deafness - onychodystrophy | (Orphanet:3231) |
Encephalopathy due to sulfite oxidase deficiency | (Orphanet:833) |
GRACILE syndrome | (Orphanet:53693) |
Galactose epimerase deficiency | (Orphanet:79238) |
Hartnup syndrome | (Orphanet:2116) |
Hereditary orotic aciduria | (Orphanet:30) |
Histidinuria - renal tubular defect | (Orphanet:2158) |
Hydrocephalus - blue sclerae - nephropathy | (Orphanet:2186) |
Hyperprolinemia type 1 | (Orphanet:419) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Ichthyosis - intellectual deficit - dwarfism - renal impairment | (Orphanet:2278) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Isovaleric acidemia | (Orphanet:33) |
Maple syrup urine disease | (Orphanet:511) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Myalgia-eosinophilia syndrome associated with tryptophan | (Orphanet:2582) |
Neonatal intrahepatic cholestasis due to citrin deficiency | (Orphanet:247598) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Netherton syndrome | (Orphanet:634) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Peeling skin syndrome | (Orphanet:817) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Phenylketonuria | (Orphanet:716) |
Propionic acidemia | (Orphanet:35) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Seizures - intellectual deficit due to hydroxylysinuria | (Orphanet:79156) |
Sialidosis type 1 | (Orphanet:812) |
Stimmler syndrome | (Orphanet:3199) |
Tyrosinemia type 1 | (Orphanet:882) |
Tyrosinemia type 2 | (Orphanet:28378) |
Xeroderma pigmentosum | (Orphanet:910) |