Baller-gerold syndrome

Preferred Label : Baller-gerold syndrome;

Symbol : BGS;

CISMeF acronym : BGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis with radial defects; Craniosynostosis-radial aplasia syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA helicase, RecQ-like, type 4 gene (RECQL4, 603780.0012);

Prefixed ID : #218600;

Détails

Origin ID

218600;

UMLS CUI

C0265308;

Automatic exact mappings (from CISMeF team)
- Bag Dosing Unit [NCIt concept]
- Baller-Gerold syndrome [ICD-11 More detail]
- Baller-Gerold syndrome [MedDRA Preferred Term]
- sentinel lymph node biopsy [MeSH Descriptor]
Currated CISMeF NLP mapping
- Baller-Gerold syndrome [DO Concept]
- Baller-Gerold syndrome [ORDO Disease]
- Baller-Gerold syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis radial aplasia syndrome [MeSH concept]
- baller-gerold syndrome [SNOMED Notion]
- craniosynostosis radial aplasia syndrome [MeSH Supplementary Concept]
DO Cross reference
- Baller-Gerold syndrome [DO Concept]
False automatic mappings
- Bangladesh [NCIt concept]
- Bulgaria [NCIt concept]
Genes related to phenotype
- Recq protein-like 4 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Absent radius [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anomalous splenoportal venous system [HPO term]
- Anteriorly placed anus [HPO term]
- Aphalangy of the hands [HPO term]
- Aplasia of metacarpal bones [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicoronal synostosis [HPO term]
- Bifid uvula [HPO term]
- Brachyturricephaly [HPO term]
- Carpal bone aplasia [HPO term]
- Carpal synostosis [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flat forehead [HPO term]
- High palate [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intellectual disability [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Limited elbow movement [HPO term]
- Limited knee movement [HPO term]
- Limited shoulder movement [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Micrognathia [HPO term]
- Midface capillary hemangioma [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Optic atrophy [HPO term]
- Patellar hypoplasia [HPO term]
- Perineal fistula [HPO term]
- Polymicrogyria [HPO term]
- Prominent nasal bridge [HPO term]
- Rectovaginal fistula [HPO term]
- Rib fusion [HPO term]
- Sagittal craniosynostosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Ulnar bowing [HPO term]
- Underdeveloped nasal alae [HPO term]
- absent carpals, metacarpals, and phalanges [HPO term]
- absent or hypoplastic radii [HPO term]
ORDO concept(s)
- Baller-Gerold syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baller-Gerold syndrome [ORDO Disease]
- Baller-Gerold syndrome [DO Concept]
- Baller-Gerold syndrome [MedDRA Preferred Term]
- Baller-Gerold syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis radial aplasia syndrome [MeSH concept]
- baller-gerold syndrome [SNOMED Notion]
- craniosynostosis radial aplasia syndrome [MeSH Supplementary Concept]

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