Search Ontology:
Human Disease
Saethre-Chotzen syndrome
- Term ID
- DOID:14768
- Synonyms
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- acrocephalosyndactyly type III
- Definition
- An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (5)
- References
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- GARD:7598
- MESH:D000168
- MIM:101400
- MIM:180750
- NCI:C75034
- ORDO:794
- SNOMEDCT_US_2023_03_01:390726000
- UMLS_CUI:C0175699
- Ontology
- Human Disease ( DOID:14768 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models