orofaciodigital syndrome X

Summary

orofaciodigital syndrome X (MONDO:0008137) is a disease. A subtype of orofaciodigital syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	orofaciodigital syndrome X
Mondo ID	MONDO:0008137
MeSH	C563491
OMIM	165590
Orphanet	2756
DOID	DOID:0060380
SNOMED CT	722075004
UMLS	C1833796
MedGen	322280
GARD	0004061
Is cancer (heuristic)	no

Also known as: Figuera syndrome · OFD syndrome 10 · OFD10 · oral facial digital syndrome 10 · oral facial digital syndrome type 10 · oral-facial-digital syndrome 10 · oral-facial-digital syndrome type 10 · orofaciodigital syndrome 10 · orofaciodigital syndrome type 10 · orofaciodigital syndrome type Figuera · orofaciodigital syndrome type X · orofaciodigital syndrome with fibular aplasia · orofaciodigital syndrome X

Disease family

This is a subtype of orofaciodigital syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › orofaciodigital syndrome › orofaciodigital syndrome X

Related subtypes (18): orofaciodigital syndrome V, orofaciodigital syndrome type II, orofaciodigital syndrome III, orofaciodigital syndrome IV, orofaciodigital syndrome IX, orofaciodigital syndrome type 6, orofaciodigital syndrome VIII, orofaciodigital syndrome VII, orofaciodigital syndrome XI, orofaciodigital syndrome type 14, orofaciodigital syndrome XV, orofaciodigital syndrome type 12, orofaciodigital syndrome 16, orofaciodigital syndrome 17, orofaciodigital syndrome 18, orofaciodigital syndrome 19, orofaciodigital syndrome 20, orofaciodigital syndrome 21

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.