FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	orofaciodigital syndrome	ID (Ontology)	DOID:4501 (Human Disease)
Definition	A syndrome that is characterized by malformations of the face, oral cavity, and digits.
Also Known As	"oral-facial-digital syndrome"
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available

Spanning Tree (Parents/Children)

  disease
   |__syndrome
       |__orofaciodigital syndrome  6 rec.
           |__orofaciodigital syndrome I
           |__orofaciodigital syndrome II 1 rec.
           |__orofaciodigital syndrome III
           |__orofaciodigital syndrome IV 1 rec.
           |__orofaciodigital syndrome IX
           |__orofaciodigital syndrome V
           |__orofaciodigital syndrome VII
           |__orofaciodigital syndrome VIII
           |__orofaciodigital syndrome X
           |__orofaciodigital syndrome XI
           |__orofaciodigital syndrome XIV 1 rec.
           |__orofaciodigital syndrome XIX
           |__orofaciodigital syndrome XVI
           |__orofaciodigital syndrome XVII 1 rec.
           |__orofaciodigital syndrome XVIII 1 rec.
           |__orofaciodigital syndrome XX 1 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	syndrome
Part of
Synonyms & Secondary IDs
Synonyms
	"oral-facial-digital syndrome" EXACT
Secondary IDs

External Crossreferences & Linkouts
	ICD10CM:Q87.0 MESH:D009958 SNOMEDCT_US_2023_03_01:52868006 UMLS_CUI:C0029294