orofaciodigital syndrome III

Term ID

DOID:0060373

Synonyms

• Sugarman syndrome

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

References

• MESH:C557817
• OMIM:258850
• ORDO:2752
• SNOMEDCT_US_2023_03_01:239030004
• UMLS_CUI:C0406726

Ontology

Human Disease   ( DOID:0060373 )