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Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts

MedGen UID:: 1052960
•Concept ID:: CN376593
•: Finding

Synonym:	Alpha-aminoadipic semialdehyde synthase low in fibroblasts

HPO:	HP:6000081

Definition

Activity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVReduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal tissue enzyme concentration or activity
      - Abnormal enzyme activity in cultured fibroblasts
        Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts

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