| Metadata | |
|---|---|
| ID | DOID:14671 |
| Name | multiple intestinal atresia |
| Definition | An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/23423984 |
| Xrefs |
MEDDRA:10028210 SNOMEDCT_US_2023_03_01:95472001 |
| Subsets |
DO_rare_slim |
| Synonyms |
familial intestinal polyatresia syndrome [EXACT] gastrointestinal defects and immunodeficiency syndrome [EXACT] GIDID [EXACT] Multiple gastrointestinal atresias [EXACT] |
| Parent Relationships |
is_a intestinal disease |