Skip to main content

Table 7 Examples of extracted EI compared with Orphanet data

From: Precision information extraction for rare disease epidemiology at scale

Diseases

EI labels

BioBERT EI extractor

Orphanet epidemiologic data

Rett syndrome (GARD:0005696), a neurodevelopmental disorder that is characterized by developmental delay and regression, abnormal respiration, absent speech, and inconsolable screaming, crying, panic-like attacks, and gnashing of teeth [84]

Key Phrase from Abstract

“Five patients with definite RS were identified in a population of 203,801 children (98,932 girls) 0–18 years of age yielding a prevalence rate of RS of 1 in 40,760 in North Dakota children.” [85]

LOC

North Dakota

United States

EPI

Prevalence rate(s)

Prevalence at birth

STAT

1 in 40,760, which can be normalized to 2.45 per 100,000

1–9/100,000

Eosinophilic esophagitis (GARD:0009142), characterized by nausea, vomiting, and pain from inflammation in the esophagus caused by eosinophil invasion [86]

Key Phrase from Abstract

“…series of EE have also been reported in Japan. … The prevalence of EE was calculated to be 17.1/100,000.” [87]

LOC

Japan

Japan

EPI

Prevalence

Point prevalence

STAT

17.1/100,000

17.1 per 100,000

Smith-Magenis syndrome (GARD:0008197), is “associated with psychomotor delay, a particular behavioural pattern and congenital anomalies.”[88]

Key Phrase from Abstract

“Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000)” [88]

LOC

Worldwide

Worldwide

EPI

Prevalence

Point prevalence

STAT

1 in 25 000, which is normalized to 4 per 100,000

4 per 100,000

Fibrodysplasia ossificans progressiva (GARD:0006445), an autosomal dominant disorder characterized by a single mutation that leads to the painful ossification of skeletal muscle, tendons, and ligaments after trauma [89]

Key Phrase from Abstract

“Previous studies found that the FOP prevalence was about one in every two million lives. The aim of this study is to estimate the FOP prevalence in France”

“89 FOP patients were identified, which results in a prevalence of 1.36 per million inhabitants (CI95% = [1.10; 1.68]).”[90]

LOC

France

France

EPI

Prevalence

Point prevalence

STAT

1.36 per million inhabitants, which can be normalized to 0.136 per 100,000, and about one in every two million lives

0.136 per 100,000

Granulomatosis with polyangiitis (GARD:0007880), also called Wegener granulomatosis, is an autoimmune disease characterized by sinus and joint pain, respiratory infections, and skin lesions caused by inflammation of blood vessels [91]

Key Phrase from Abstract

“annual incidence/ million population increased from 5.2 (95% confidence interval [95% CI] 2.7–9.0) during 1984–1988 to 12.0 (95% CI 8.0–17.3) during 1994–1998. The point prevalence/million increased from 30.4 (95% CI 16.6–51.0) to 95.1 (95% CI 69.1–129.0).”[92]

LOC

Northern Norway

Norway

EPI

Incidence, incidence rate, annual incidence, prevalence, prevalence rates, point prevalence

Point prevalence

STAT

Million population, million, 30. 4, to 95. 1

9.51 per 100,000