diaphragmatic hernia 3
Findings
No curated finding names diaphragmatic hernia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012431), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Juvenile onset · Second trimester onset
HPO, annotations 2026-09-02
Features
22 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.
- Abnormal pulmonary fissure architectureHPOHP:0032992
- 1 of 1 reported patient
- Aplasia of the left hemidiaphragmHPOHP:0009112
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- Intestinal malrotationHPOHP:0002566
Show the remaining 10
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent singultusHPOHP:0100247
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZFPM2HGNC:16700
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: diaphragmatic hernia 3
- Also called
- congenital diaphragmatic hernia caused by mutation in ZFPM2diaphragmatic hernia type 3ZFPM2 congenital diaphragmatic hernia