gastrointestinal defect and immunodeficiency syndrome
MONDO:0030831Mondo
Findings
No curated finding names gastrointestinal defect and immunodeficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hereditary disease characterized by intestinal obstruction and profound combined immune deficiency.
Definition from the Mondo Disease Ontology (MONDO:0030831), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ectopic calcificationHPOHP:0010766
- Very frequent (80% to 99% of cases)
- Gastrointestinal atresiaHPOHP:0002589
- Very frequent (80% to 99% of cases)
- Intestinal atresiaHPOHP:0011100
- Very frequent (80% to 99% of cases)
- Severe combined immunodeficiencyHPOHP:0004430
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Absent eyebrowHPOHP:0002223
- Frequent (30% to 79% of cases)
- Bloody diarrheaHPOHP:0025085
- Frequent (30% to 79% of cases)
- ImmunodeficiencyHPOHP:0002721
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Jejunoileal ulcerationHPOHP:0005229
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Sparse hairHPOHP:0008070
- Frequent (30% to 79% of cases)
Show the remaining 18
- Abnormal ductus choledochus morphologyHPOHP:0100889
- Occasional (5% to 29% of cases)
- Alopecia of scalpHPOHP:0002293
- Occasional (5% to 29% of cases)
- Hypoplasia of the thymusHPOHP:0000778
- Occasional (5% to 29% of cases)
- Intestinal malrotationHPOHP:0002566
- Occasional (5% to 29% of cases)
- Peritoneal abscessHPOHP:0100592
- Occasional (5% to 29% of cases)
- Rectal abscessHPOHP:0005224
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: gastrointestinal defect and immunodeficiency syndrome
- Also called
- hereditary multiple intestinal atresia