Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/243150
http://purl.bioontology.org/ontology/OMIM/243150
|
|---|---|
| Preferred Name | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1 |
| Synonyms |
MULTIPLE INTESTINAL ATRESIA AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
FAMILIAL INTESTINAL POLYATRESIA SYNDROME
MINAT
FIPA
INTESTINAL ATRESIA, MULTIPLE
GIDID1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MULTIPLE INTESTINAL ATRESIA AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
FAMILIAL INTESTINAL POLYATRESIA SYNDROME
MINAT
FIPA
INTESTINAL ATRESIA, MULTIPLE
GIDID1
See more
See less
|
|---|---|
| prefLabel | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1
|
| Gene Symbol |
KIAA1140
TTC7
GIDID
TTC7A
MINAT
|
| Scope Statement | Fatal in first few months of life in most cases [MISCELLANEOUS]
Caused by mutation in the tetratricopeptide repeat domain-containing protein-7A gene (TTC7A, 609332.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 2p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 243150
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0220744
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |