Nicolaides-baraitser syndrome

Preferred Label : Nicolaides-baraitser syndrome;

Symbol : NCBRS;

CISMeF acronym : NBS; NCBRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NBS; Sparse hair-impaired intellectual development syndrome;

Description : Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene (SMARCA2, 600014.0001);

Prefixed ID : #601358;

Détails

Origin ID

601358;

UMLS CUI

C1303073;

Automatic exact mappings (from CISMeF team)
- Microcephaly, normal intelligence and immunodeficiency (disorder) [SNOMED CT concept]
- NBL1 wt Allele [NCIt concept]
- NBN wt Allele [NCIt concept]
- NeuroBlate System [NCIt concept]
- Nijmegen breakage syndrome [DO Concept]
- SMARCA2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Nicolaides Baraitser syndrome [Disease (Nov.)]
- Nicolaides Baraitser syndrome [MeSH concept]
- Nicolaides-Baraitser syndrome [ORDO Disease]
- Nicolaides-Baraitser syndrome (disorder) [SNOMED CT concept]
- nicolaides baraitser syndrome [MeSH Supplementary Concept]
False automatic mappings
- Nibrin [NCIt concept]
- Nijmegen breakage syndrome [ORDO Disease]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2 [OMIM gene]
HPO term(s)
- Absent eyebrow [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad philtrum [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Eczema [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Narrow nasal bridge [HPO term]
- Narrow palpebral fissure [HPO term]
- Poor speech [HPO term]
- Prominent interphalangeal joints [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Sparse scalp hair [HPO term]
- Thick lower lip vermilion [HPO term]
- Triangular face [HPO term]
- Unilateral narrow palpebral fissure [HPO term]
- Wide mouth [HPO term]
- Wide nasal base [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Nicolaides-Baraitser syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nicolaides Baraitser syndrome [MeSH concept]
- Nicolaides Baraitser syndrome [Disease (Nov.)]
- Nicolaides-Baraitser syndrome [ORDO Disease]
- Nicolaides-Baraitser syndrome (disorder) [SNOMED CT concept]
- nicolaides baraitser syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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