Synonyms: Bohring-Opitz syndrome, BOS, BOPS, Bohring syndrome, C-like syndrome, Oberklaid-Danks syndrome*, Opitz trigonocephaly-like syndrome
HGNC Approved Gene Symbol: ASXL1 (responsible gene for Bohring-Opitz syndrome)
Cytogenetic location: 20q11.21 (genes position on chromosome)
Genomic coordinates (GRCh38): 20:32,358,061-32,439,318 (from NCBI)
ORPHA: 97297 (The portal for rare diseases and orphan drugs)
ICD-10: Q87.8 (Diagnosis Codes – International Classification of Diseases – Medical Diagnosis Codes)
OMIM: 605039 (Online Mendelian Inheritance in Man)
UMLS: C0796232 (Unified Medical Language System)
GARD: 10140 (Genetic and Rare Diseases Information Center)
Source: https://omim.org/entry/612990 and http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=97297
* BOS is known as Oberklaid-Danks-Syndrome after F. Oberklaid and DM. Danks who discribed one of the first cases of BOS [Oberklaid & Danks 1975]. BOS is now the more commonly used term.
Bohring-Opitz Syndrome 