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multiple intestinal atresia
Summary
- Synonym
-
- GIDID
- Multiple gastrointestinal atresias
- familial intestinal polyatresia syndrome
- gastrointestinal defects and immunodeficiency syndrome
- 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.
- Super Class
- autosomal recessive disease intestinal disease
External Links
- Disease Ontology
- DOID:14671
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000778 | Hypoplasia of the thymus |
| HP:0002721 | Immunodeficiency |
| HP:0001539 | Omphalocele |
| HP:0003765 | Psoriasiform dermatitis |
| HP:0002223 | Absent eyebrow |
| HP:0005224 | Rectal abscess |
| HP:0001629 | Ventricular septal defect |
| HP:0002960 | Autoimmunity |
| HP:0001072 | Thickened skin |
| HP:0002566 | Intestinal malrotation |
