FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term craniofacial-deafness-hand syndrome ID (Ontology) DOID:0111336 (Human Disease)
Definition A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1.
Also Known As "CDHS" ; "Sommer-Young-Wee-Frye syndrome"
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 Genes
 craniofacial-deafness-hand syndrome       5
 for disease ribbon | craniofacial-deafness-hand syndrome       5
 model of | craniofacial-deafness-hand syndrome       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                craniofacial-deafness-hand syndrome  5 rec.
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Is a autosomal dominant disease
syndrome
Part of
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Synonyms
  • "CDHS" EXACT OMO:0003012
    "Sommer-Young-Wee-Frye syndrome" EXACT
Secondary IDs
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GARD:1571
MESH:C536453
MIM:122880
ORDO:1529
SNOMEDCT_US_2023_03_01:702362004
UMLS_CUI:C1852510