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Metadata
ID DOID:0070115
Name Meckel syndrome 1
Definition A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
https://www.ncbi.nlm.nih.gov/pubmed/16415886
Xrefs

ICD10CM:Q61.9

MIM:249000

Synonyms

Meckel-Gruber syndrome, type 1 [EXACT]

MKS1 [EXACT]

Parent Relationships

is_a Meckel syndrome

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