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| Term | carboxypeptidase N deficiency | ID (Ontology) | DOID:0111583 (Human Disease) |
| Definition | A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. | ||
| Also Known As | "anaphylotoxin inactivator deficiency" ; "deficiency of carboxypeptidase B" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease________ inherited metabolic disorder | |__plasma protein metabolism disease__| carboxypeptidase N deficiency 1 rec. |
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| Is a |
autosomal recessive disease plasma protein metabolism disease |
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External Crossreferences & Linkouts
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MESH:C562876 MIM:212070 NCI:C132196 SNOMEDCT_US_2023_03_01:234627009 UMLS_CUI:C0398782 |
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