ZFIN Human Disease: vertebral anomalies and variable endocrine and T-cell dysfunction

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:	OMIM:618223
Ontology:	Human Disease ( DOID:0070345 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER vertebral anomalies and variable endocrine and T-cell dysfunction PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBX2	tbx2b tbx2a	Vertebral anomalies and variable endocrine and T-cell dysfunction	618223

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None