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Human Disease
orofaciodigital syndrome II
- Term ID
- DOID:0060959
- Synonyms
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- Mohr syndrome
- Oral-facial-digital syndrome type 2
- 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. https://pubmed.ncbi.nlm.nih.gov/27530628/
- References
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- GARD:3701
- MIM:252100
- ORDO:2751
- Ontology
- Human Disease ( DOID:0060959 )
- is a type of
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