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Human Disease
orofaciodigital syndrome III
- Term ID
- DOID:0060373
- Synonyms
-
- Sugarman syndrome
- Definition
- An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3
- References
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- MESH:C557817
- MIM:258850
- ORDO:2752
- SNOMEDCT_US_2023_03_01:239030004
- UMLS_CUI:C0406726
- Ontology
- Human Disease ( DOID:0060373 )
- is a type of
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Genes Involved
Zebrafish Models