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GlyTouCan
Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
vertebral anomalies and variable endocrine and T-cell dysfunction
Summary
- Synonym
-
- heterozygotes for TBX2 variants
- Definition
- A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0070345
- Mondo Disease Ontology
- OMIM
