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Metadata
DOID DOID:0060378
Name orofaciodigital syndrome VIII
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
Xrefs

MESH:C557820

OMIM:300484

ORDO:2755

UMLS_CUI:C0796101

Subsets

DO_rare_slim

Synonyms

Edwards syndrome [EXACT]

OFD8 [EXACT]

Relationships

is_a orofaciodigital syndrome

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