Katrin Knoflach

TL;DR: Recent major extensions of the Human Phenotype Ontology for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas are presented and new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease are presented.

TL;DR: In this article, the authors report three individuals with de-novo STAT3 GOF alleles and early-onset, severe interstitial lung disease manifesting during the first 3 years of life.

TL;DR: A register-based cohort study as discussed by the authors reviewed patients with ABCA3 lung disease who survived beyond the age of 1 year and 36/44 (82%) were still alive without transplantation.

TL;DR: This is the first comprehensive study analysing the characteristics and impact on the clinical course of AEs in chILD, finding that AEs have a significant and deleterious effect on theclinical course and health-related quality of life in children's interstitial lung disease.

TL;DR: In this paper , the authors describe characteristics and diagnostic measures in children with ILD (children's interstitial lung disease, chILD) and DAH to improve the diagnostic approach by increasing clinician's awareness of diagnostic shortcomings.