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Metadata
DOID DOID:0060373
Name orofaciodigital syndrome III
Definition An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance.
https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3
Xrefs

MESH:C557817

OMIM:258850

ORDO:2752

UMLS_CUI:C0406726

Subsets

DO_rare_slim

Synonyms

Sugarman syndrome [EXACT]

Relationships

is_a orofaciodigital syndrome

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