Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0010959 | Congenital pulmonary airway malformation |
| HP:0100651 | Type I diabetes mellitus |
| HP:0008404 | Nail dystrophy |
| HP:0012115 | Hepatitis |
| HP:0008070 | Sparse hair |
| HP:0100592 | Peritoneal abscess |
| HP:0010766 | Ectopic calcification |
| HP:0100889 | Abnormal ductus choledochus morphology |
| HP:0011100 | Intestinal atresia |
