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OBO ID: DOID:0070345
Term Name: vertebral anomalies and variable endocrine and T-cell dysfunction Search Ontology:
Synonyms:
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/29726930
References:
Ontology: Human Disease   (DOID:0070345)
OTHER vertebral anomalies and variable endocrine and T-cell dysfunction PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction 618223
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None