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Metadata
ID DOID:0051070
PURL http://purl.obolibrary.org/obo/DOID_0051070 Copy
Name Meier-Gorlin syndrome 10
Definition A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22.
https://pubmed.ncbi.nlm.nih.gov/31784481/
Xrefs

MIM:621528

Parent Relationships

is_a Meier-Gorlin syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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