Term Name: | neonatal nephrocutaneous inflammatory syndrome |
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Synonyms: | neonatal inflammatory skin and bowel disease 2 |
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. |
Ontology: | Human Disease [DOID:0061191] ( DOID:0061191 ) |