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Metadata
ID DOID:0060961
Name orofaciodigital syndrome XVIII
Definition An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
https://pubmed.ncbi.nlm.nih.gov/27060890/
Xrefs

MIM:617927

ORDO:508501

Subsets

DO_rare_slim

Synonyms

Oral-facial-digital syndrome type 18 [EXACT]

Oral-facial-digital syndrome with short stature and brachymesophalangy [EXACT]

Orofaciodigital syndrome type 18 [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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