Meckel syndrome 7

Summary
Synonym
  • MKS7
  • Meckel-Gruber syndrome, type 7
Definition
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1.
Super Class
Meckel syndrome
Disease Ontology
DOID:0070121
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27031 NPHP3 nephrocystin 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024