Term Name: neonatal nephrocutaneous inflammatory syndrome
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 )

Relationships
is a type of: autoinflammatory disease autosomal recessive disease