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Metadata
ID DOID:0070116
Name Meckel syndrome 2
Definition A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.
https://www.ncbi.nlm.nih.gov/pubmed/20512146
Xrefs

ICD10CM:Q61.9

OMIM:603194

Synonyms

Meckel-Gruber syndrome, type 2 [EXACT]

MKS2 [EXACT]

Parent Relationships

is_a Meckel syndrome

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