Visualize Submit Comment
Metadata
ID 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

SNOMEDCT_US_2023_03_01:239030004

UMLS_CUI:C0406726

Subsets

DO_rare_slim

Synonyms

Sugarman syndrome [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Add an item to the term tracker