Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

Preferred Label : Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome;

NCIt synonyms : HADDTS;

NCIt definition : An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.;

NCI Metathesaurus CUI : CL925280;

Details

Origin ID

C192635;

UMLS CUI

C4693578;

Currated CISMeF NLP mapping
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CTBP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients