Temtamy syndrome

Preferred Label : Temtamy syndrome;

Symbol : TEMTYS;

CISMeF acronym : TEMTYS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;

Description : Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 12 open reading frame 57 gene (C12ORF57, 615140.0001);

Prefixed ID : #218340;

Details

Origin ID

218340;

UMLS CUI

C1857512;

Currated CISMeF NLP mapping
- Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) [SNOMED CT concept]
- Temtamy Syndrome [NCIt concept]
- Temtamy syndrome [DO Concept]
- Temtamy syndrome [MeSH concept]
- Temtamy syndrome [ORDO Disease]
- temtamy syndrome [MeSH Supplementary Concept]
DO Cross reference
- Temtamy syndrome [DO Concept]
Genes related to phenotype
- Chromosome 12 open reading frame 57 [OMIM gene]
HPO term(s)
- 'key-hole' iris, retina, choroid coloboma [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aortic aneurysm [HPO term]
- Aortic regurgitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Chorioretinal coloboma [HPO term]
- Convex nasal ridge [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Ectopia lentis [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hip dislocation [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Iris coloboma [HPO term]
- Lens dislocation [HPO term]
- Lens luxation [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Lop ear [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Pes planus [HPO term]
- Poorly formed pinnae [HPO term]
- Seizure [HPO term]
- Short 2nd toe [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Temtamy syndrome [ORDO Disease]
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 [NCIt concept]
- Temtamy syndrome [ORDO Disease]
- Temtamy syndrome [MeSH concept]
- Temtamy syndrome [DO Concept]
- temtamy syndrome [MeSH Supplementary Concept]

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