OBO ID: DOID:14671
Term Name: multiple intestinal atresia Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/23423984
References:
Ontology: Human Disease   ( DOID:14671 )
Relationships
is a type of:
OTHER multiple intestinal atresia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTC7A Gastrointestinal defects and immunodeficiency syndrome 243150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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