Meckel syndrome 7

Term ID

DOID:0070121

Synonyms

• Meckel-Gruber syndrome, type 7
• MKS7

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/18371931

References

• MESH:C537756
• OMIM:267010
• ORDO:3032
• SNOMEDCT_US_2023_03_01:773737004
• UMLS_CUI:C2673885

Ontology

Human Disease   ( DOID:0070121 )