AI	Artificial intelligence
ALS	Amyotrophic lateral sclerosis
API	Application programming interface
CDG	Congenital disorders of glycosylation
CDWs	Clinical data warehouses
CFML	Characteristic feature mining algorithm
CNVs	Copy number variants
COG	Conserved oligomeric Golgi
CSAX	characterizing systematic anomalies in expression data
CTs	Clinical trials
CVID	Common variable immunodeficiency
DABLC	Dic-Att-BiLSTM-CRF
DeepPVP	Deep phenomeNET variant predictor
(D)DSS	(Diagnosis) decision support systems
eDIVA	Exome disease variant analysis
HER	Electronic health records
GA	Golgi apparatus
GPP	Glycosylation prediction program
HANRD	Heterogeneous association network for rare diseases
HHT	Hereditary hemorrhagic telangiectasia
IBM	Inclusion body myositis
IR	Infrared
isGPT	identification of sub-Golgi protein types
LSDs	Lysossomal storage diseases
ML	Machine learning
MPS II	Mucopolysaccharidosis type II
NER	Named entities recognition
NGS	Next generation sequencing
NLP	Natural language processing
NN	Neural network
PCA	Principal component analysis
PH	Pulmonary hypertension
QMR	Quick Medical Reference
RDAD	Rare disease auxiliary diagnosis system
RDs	Rare diseases
R&D	Research and development
RF	Random forest
SilVA	Silent variant analyzer
SLE	Stroke-like episodes
SNPs	Single nucleotide polymorphisms
SNVs	Single nucleotide variants
SS	Synovial sarcoma
SVM	Support vector machine
URSAHD	Unveiling RNA sample annotation for human diseases
VarCoPP	Variant combinations pathogenicity predictor
VEST	Variant effect scoring tool
WES	Whole-exome sequencing
WGS	Whole genome sequencing