multiple intestinal atresia

Summary

DOID:14671 - multiple intestinal atresia

Disease Ontology 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.

Synonyms: Multiple gastrointestinal atresias (disorder), MEDDRA:10028210, familial intestinal polyatresia syndrome, GIDID, Multiple gastrointestinal atresias, gastrointestinal defects and immunodeficiency syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ttc7a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009465 - multiple intestinal atresia

MONDO:0009465 - multiple intestinal atresia

MIM:

MIM:243150 - GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1; GIDID1

MIM:243150 - GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1; GIDID1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), intestinal disease (is_a)