FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neonatal nephrocutaneous inflammatory syndrome ID (Ontology) DOID:0061191 (Human Disease)
Definition An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.
Also Known As "neonatal inflammatory skin and bowel disease 2"
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 Genes
 neonatal nephrocutaneous inflammatory syndrome       1
 for disease ribbon | neonatal nephrocutaneous inflammatory syndrome       1
 model of | neonatal nephrocutaneous inflammatory syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__autoinflammatory disease______|
                                  neonatal nephrocutaneous inflammatory syndrome  1 rec.
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Is a autosomal recessive disease
autoinflammatory disease
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Synonyms
  • "neonatal inflammatory skin and bowel disease 2" EXACT
Secondary IDs
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MIM:616069