Search Ontology:
Human Disease
ZTTK syndrome
- Term ID
- DOID:0060953
- Synonyms
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- Zhu-Tokita-Takenouchi-Kim syndrome
- ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
- Definition
- A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/27545680/
- References
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- GARD:13489
- MIM:617140
- ORDO:500150
- UMLS_CUI:C4310696
- Ontology
- Human Disease ( DOID:0060953 )
- is a type of
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Genes Involved
Zebrafish Models
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