orofaciodigital syndrome VIII

Term ID

DOID:0060378

Synonyms

• OFD8

Definition

An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8

References

• MESH:C557820
• OMIM:300484
• ORDO:2755
• SNOMEDCT_US_2023_03_01:722106001
• UMLS_CUI:C0796101

Ontology

Human Disease   ( DOID:0060378 )