Temple-baraitser syndrome

Preferred Label : Temple-baraitser syndrome;

Symbol : TMBTS;

CISMeF acronym : TMBTS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, severe, and absent nails of hallux and pollex;

Description : Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, subfamily H, member 1 gene (KCNH1, 603305.0001);

Prefixed ID : #611816;

Details

Origin ID

611816;

UMLS CUI

C2678486;

Currated CISMeF NLP mapping
- Temple Baraitser syndrome (disorder) [SNOMED CT concept]
- Temple-Baraitser syndrome [ORDO Disease]
- Temple-Baraitser syndrome [MeSH concept]
- Temple-Baraitser syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, subfamily h, member 1 [OMIM gene]
HPO term(s)
- Absent nail of hallux [HPO term]
- Adducted thumb [HPO term]
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Flat forehead [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic thumbnail [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Long philtrum [HPO term]
- Myopathic facies [HPO term]
- Pseudoepiphysis of the thumb [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Thick nasal alae [HPO term]
- Thick vermilion border [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Temple-Baraitser syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Temple Baraitser syndrome (disorder) [SNOMED CT concept]
- Temple-Baraitser syndrome [MeSH Supplementary Concept]
- Temple-Baraitser syndrome [MeSH concept]
- Temple-Baraitser syndrome [ORDO Disease]

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