Search Ontology:
Human Disease
Temtamy syndrome
- Term ID
- DOID:0111621
- Synonyms
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- craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
- craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
- dysmorphism, corpus callosum agenesis and colobomas
- Temtamy-Shalash syndrome
- Definition
- A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/23453666
- References
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- GARD:5688
- MESH:C536959
- MIM:218340
- NCI:C148371
- ORDO:1777
- SNOMEDCT_US_2023_03_01:719947004
- UMLS_CUI:C1857512
- Ontology
- Human Disease ( DOID:0111621 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models