OBO ID: DOID:0060374 |
Term Name: | orofaciodigital syndrome IV | Search Ontology: | |
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Synonyms: |
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Definition: | An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 | ||
References: |
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Ontology: | Human Disease ( DOID:0060374 ) |
OTHER orofaciodigital syndrome IV PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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TCTN3 | Orofaciodigital syndrome IV |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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