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Metadata
ID DOID:0070121
Name Meckel syndrome 7
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
Xrefs

MESH:C537756

OMIM:267010

ORDO:3032

SNOMEDCT_US_2023_03_01:773737004

UMLS_CUI:C2673885

Subsets

DO_rare_slim

Synonyms

Meckel-Gruber syndrome, type 7 [EXACT]

MKS7 [EXACT]

Parent Relationships

is_a Meckel syndrome

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