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Repository for lectin-assisted multimodality data
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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9ULT0 | Tetratricopeptide repeat protein 7A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003270 | Abdominal distention |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0010959 | Congenital pulmonary airway malformation |
| HP:0001511 | Intrauterine growth retardation |
| HP:0005229 | Jejunoileal ulceration |
| HP:0100651 | Type I diabetes mellitus |
| HP:0002589 | Gastrointestinal atresia |
| HP:0000872 | Hashimoto thyroiditis |
| HP:0002722 | Recurrent abscess formation |
| HP:0008404 | Nail dystrophy |
