orofaciodigital syndrome IX

Term ID

DOID:0060382

Synonyms

• OFD9
• orofaciodigital syndrome with retinal abnormalities

Definition

An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (2)

References

• GARD:10520
• MESH:C557818
• OMIM:258865
• ORDO:141007
• SNOMEDCT_US_2023_03_01:718680001
• UMLS_CUI:C0796102

Ontology

Human Disease   ( DOID:0060382 )