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Human Disease
Meckel syndrome 7
- Term ID
- DOID:0070121
- Synonyms
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- 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
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- MESH:C537756
- MIM:267010
- ORDO:3032
- SNOMEDCT_US_2023_03_01:773737004
- UMLS_CUI:C2673885
- Ontology
- Human Disease ( DOID:0070121 )
- is a type of
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Genes Involved
Zebrafish Models