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Metadata
ID DOID:0060380
Name orofaciodigital syndrome X
Definition An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
https://omim.org/entry/165590
Xrefs

ICD10CM:Q87.0

MESH:C563491

OMIM:165590

ORDO:2756

Subsets

DO_rare_slim

Synonyms

OFD10 [EXACT]

orofaciodigital syndrome with fibular aplasia [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal dominant disease

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