FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term orofaciodigital syndrome II ID (Ontology) DOID:0060959 (Human Disease)
Definition An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33.
Also Known As "Mohr syndrome" ; "Oral-facial-digital syndrome type 2"
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 Genes
 orofaciodigital syndrome II       1
 for disease ribbon | orofaciodigital syndrome II       1
 model of | orofaciodigital syndrome II       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome II  1 rec.
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Is a autosomal recessive disease
orofaciodigital syndrome
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Synonyms
  • "Mohr syndrome" EXACT
    "Oral-facial-digital syndrome type 2" EXACT
Secondary IDs
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GARD:3701
MIM:252100
ORDO:2751