Temtamy Syndrome

Preferred Label : Temtamy Syndrome;

NCIt synonyms : TEMTYS;

NCIt definition : An extremely rare autosomal recessive condition caused by mutation(s) in the C12orf57 gene, encoding protein C10. It is characterized by agenesis/hypoplasia of the corpus callosum, associated with developmental delay, and variable craniofacial and skeletal abnormalities.;

Details

Origin ID

C148371;

UMLS CUI

C1857512;

Currated CISMeF NLP mapping
- Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) [SNOMED CT concept]
- Temtamy syndrome [ORDO Disease]
- Temtamy syndrome [OMIM Phenotype]
- Temtamy syndrome [MeSH concept]
- Temtamy syndrome [DO Concept]
- temtamy syndrome [MeSH Supplementary Concept]
DO Cross reference
- Temtamy syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) [SNOMED CT concept]
- Temtamy syndrome [OMIM Phenotype]
- Temtamy syndrome [MeSH concept]
- Temtamy syndrome [ORDO Disease]
- Temtamy syndrome [DO Concept]
- temtamy syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- C12orf57 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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