Meckel syndrome 3

Term ID

DOID:0070117

Synonyms

• Meckel-Gruber syndrome, type 3
• MKS3

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/16415887

References

• ICD10CM:Q61.9
• MIM:607361

Ontology

Human Disease   ( DOID:0070117 )