developmental defect during embryogenesis
MONDO:0019755Mondo
Findings
No curated finding names developmental defect during embryogenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease that has its basis in the disruption of embryonic morphogenesis.
Definition from the Mondo Disease Ontology (MONDO:0019755), read 2026-09-29. CC BY 4.0.
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.
- NMNAT2HGNC:16789
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (52)
- abdominal wall malformation
- angioosteohypertrophic syndrome
- ankyloblepharon filiforme-imperforate anus syndrome
- anotia
- Becker nevus syndrome
- blindness - scoliosis - arachnodactyly syndrome
- bone fragility with contractures, arterial rupture, and deafness
- central nervous system malformation
- cleft palate
- congenital anomaly of kidney and urinary tract
- congenital limb malformation
- conjoined twins
- cutis laxa
- cutis laxa - Marfanoid syndrome
- cysts and fistulae of the face and oral cavity
- Desbuquois dysplasia
- developmental anomaly of metabolic origin
- diaphragmatic malformation
- disorder of sexual differentiation
- Ehlers-Danlos syndrome
Other names
5 names
Resolves to: developmental defect during embryogenesis
- Also called
- congenital malformation syndromedisorder of embryonic morphogenesisembryonic morphogenesis diseasemalformation syndromerare developmental defect during embryogenesis