RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 TTC7A on chromosome 2p21. (DO)
Synonyms:
exact_synonym:
FIPA; GIDID; MEDDRA:10028210; MINAT; familial intestinal polyatresia syndrome; gastrointestinal defects and immunodeficiency syndrome; multiple gastrointestinal atresias; multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency
ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY ClinVar Annotator: match by term: Multiple gastrointestinal atresias
ClinVar Annotator: match by OMIM:243150 ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY ClinVar Annotator: match by term: Multiple gastrointestinal atresias