Bohring-Opitz Syndrome

Preferred Label : Bohring-Opitz Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ASXL1 gene, encoding putative polycomb group protein ASXL1. It is characterized by severe intrauterine growth retardation, profound mental retardation, craniofacial dysmorphisms, and flexion deformities of the upper limbs.;

Details

Origin ID

C131533;

UMLS CUI

C0796232;

Currated CISMeF NLP mapping
- Bohring Opitz syndrome (disorder) [SNOMED CT concept]
- Bohring syndrome [MeSH concept]
- Bohring-Opitz syndrome [ORDO Disease]
- Bohring-opitz syndrome [OMIM Phenotype]
- bohring syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bohring Opitz syndrome (disorder) [SNOMED CT concept]
- Bohring syndrome [MeSH concept]
- Bohring-Opitz syndrome [ORDO Disease]
- Bohring-opitz syndrome [OMIM Phenotype]
- bohring syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- ASXL1 Gene [NCIt concept]
related_to_genetic_biomarker
- ASXL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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