Meckel syndrome 2

Term ID

DOID:0070116

Synonyms

• Meckel-Gruber syndrome, type 2
• MKS2

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. https://www.ncbi.nlm.nih.gov/pubmed/20512146

References

• ICD10CM:Q61.9
• OMIM:603194

Ontology

Human Disease   ( DOID:0070116 )