Additional file 1: of Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Extracted phenotypical concepts per cohort. For each cohort, we list the top50 concepts ranked by Frequency and TF-IDF. The first column is the UMLS code of the phenotypical concepts, the second column is the French preferred terms, the third column is the English preferred terms, the fourth column is the frequencies score (FREQ), the fifth column is the TF-IDF score, the sixth column is the rank of the concept sorted by the frequency score, the seventh column is the rank of the concept sorted by the TF-IDF score and the eighth column is the expert evaluation (1: relevant concept, 0: none relevant concept). (XLS 93 kb

Evolution of BMD.

<p>Changes in BMD at the lumbar spine in 18 RS patients from baseline to the end of treatment (after) and up to the last post-treatment visit (follow-up). Data are not shown for two patients who had spine arthrodesis preventing DXA at the vertebrae. Note that one patient has a normal BMD at start of therapy (z-score: -0.1); she had low BMD z-scores at the femoral necks (-2). The shaded area indicates the normal range.</p

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility - Fig 4

<p><b>Changes in the biochemical markers of bone resorption over the course of treatment</b> (panel <b>A</b>: urinary calcium; panel <b>B</b>: deoxypyridinoline; panel <b>C</b>: Crosslaps).</p

Changes in BMI over the course of treatment.

<p>Changes in BMI over the course of treatment.</p

Characteristics of the 20 patients at the start of bisphosphonate therapy.

<p>Characteristics of the 20 patients at the start of bisphosphonate therapy.</p

Sites of the 37 fractures that occurred in the period preceding the bisphosphonate therapy.

<p>Sites of the 37 fractures that occurred in the period preceding the bisphosphonate therapy.</p

Fractures before, during and after bisphosphonates.

<p>Number of fractures reported by the parents/guardians or diagnosed on vertebral X-rays before bisphosphonate therapy (grey and black bars), at the end of therapy (white bar) and at follow-up (no bar).</p

Clinical and sociodemographic characteristics of children with AD related to normal and abnormal MRIs.

<p>Clinical and sociodemographic characteristics of children with AD related to normal and abnormal MRIs.</p

Dilated Virchow-Robin spaces in autism.

<p>Virchow-Robin (VR) spaces are fluid-containing dilatations of the perivascular space that surrounds penetrating arteries in the brain (white arrow). We defined abnormal VR spaces when the spaces were >3 mm using the classification system developed by Heier et al <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0004415#pone.0004415-Heier1" target="_blank">[11]</a>.</p

Results of Brain MRI abnormalities in patients with non-syndromic Autism Spectrum Disorder.

<p>Results of Brain MRI abnormalities in patients with non-syndromic Autism Spectrum Disorder.</p