Gastrointestinal Defects And Immunodeficiency Syndrome

Preferred Label : Gastrointestinal Defects And Immunodeficiency Syndrome;

Obsolete resource : true;

NCIt synonyms : GIDID; Multiple Intestinal Atresia With Combined Immune Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.;

NCIt note : See 'Gastrointestinal Defects and Immunodeficiency Syndrome(C176792)';

Concept status : Retired_Concept;

Details

Origin ID

C176622;

UMLS CUI

C5234880;

Automatic exact mappings (from CISMeF team)
- multiple intestinal atresia [DO Concept]
Currated CISMeF NLP mapping
- Gastrointestinal defect and immunodeficiency syndrome [OMIM phenotypic series]
- Gastrointestinal defects and immunodeficiency syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gastrointestinal defects and immunodeficiency syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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