Elevated intracellular cystine
Symptom Information:
Symptom ID: | HPO:0003358 | ||
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 sulfur amino acid metabolism(HPO:0004339) Abnormality of cysteine metabolism(HPO:0010918) Elevated intracellular cystine(HPO:0003358) MedDRA: |
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Database Frequency: | 4 / 7739 | ||
Resource: |
All diseases associated with this symptom:
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE | (OMIM:219900) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Cystinosis | (Orphanet:213) |
Cystinosis, adult nonnephropathic | (OMIM:219750) |