Clark-baraitser syndrome

Preferred Label : Clark-baraitser syndrome;

Symbol : CLABARS;

CISMeF acronym : MRD49; CLABARS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD49; Mental retardation, autosomal dominant 49; Baraitser syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 12 gene (TRIP12, 604506.0001);

Prefixed ID : #617752;

Details

Origin ID

617752;

UMLS CUI

C2931130;

Automatic exact mappings (from CISMeF team)
- Progeroid short stature with pigmented nevi (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Clark-Baraitser syndrome [DO Concept]
- Clark-Baraitser syndrome [MeSH concept]
- Clark-Baraitser syndrome [MeSH Supplementary Concept]
- Clark-Baraitser syndrome [ORDO Disease]
DO Cross reference
- Clark-Baraitser syndrome [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor interactor 12 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Narrow palpebral fissure [HPO term]
- Obesity [HPO term]
- Sandal gap [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Clark-Baraitser syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Clark-Baraitser syndrome [MeSH concept]
- Clark-Baraitser syndrome [MeSH Supplementary Concept]

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