| General Information | |||
|---|---|---|---|
| Term | neonatal inflammatory skin and bowel disease 1 | ID (Ontology) | DOID:0061192 (Human Disease) |
| Definition | An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25. | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| 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
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease___ primary immunodeficiency disease | |__autoinflammatory disease______| neonatal inflammatory skin and bowel disease 1 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease autoinflammatory disease |
||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
| MIM:614328 | |||