Term Name: multiple intestinal atresia
Synonyms: familial intestinal polyatresia syndrome, gastrointestinal defects and immunodeficiency syndrome, GIDID, Multiple gastrointestinal atresias
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.
Ontology: Human Disease [DOID:14671]   ( DOID:14671 )

Relationships
is a type of: autosomal recessive disease intestinal disease