Search Ontology:
Human Disease
neonatal nephrocutaneous inflammatory syndrome
- Term ID
- DOID:0061191
- 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. https://pubmed.ncbi.nlm.nih.gov/36017778/
- References
- Ontology
- Human Disease ( DOID:0061191 )
Other Pages
Genes Involved
Zebrafish Models