Meckel syndrome 5

Term ID

DOID:0070119

Synonyms

• Meckel-Gruber syndrome, type 5
• MKS5

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. https://www.ncbi.nlm.nih.gov/pubmed/17558409

References

• ICD10CM:Q61.9
• MIM:611561

Ontology

Human Disease   ( DOID:0070119 )