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Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 1 - 9
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 389 - 399
Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases,... 
case report | differential diagnosis | PubCaseFinder | rare disease | disease-phenotype association | Human Phenotype Ontology | EXOME | ONTOLOGY | DISCOVERY | GENETICS & HEREDITY | Rare diseases | Case studies | Usage | Genetic aspects | Diagnosis | Genetic screening
Journal Article
BIOINFORMATICS, ISSN 1367-4803, 06/2019, Volume 35, Issue 12, pp. 2133 - 2140
Motivation Ontologies are widely used in biology for data annotation, integration and analysis. In addition to formally structured axioms, ontologies contain... 
GENE | DATABASE | OWL | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | KNOWLEDGE | MOUSE | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | DISEASE ONTOLOGY | HUMAN PHENOTYPE ONTOLOGY | SEMANTIC SIMILARITY | TOOL
Journal Article
medizinische genetik, ISSN 0936-5931, 6/2010, Volume 22, Issue 2, pp. 221 - 228
Die präzise Beschreibung phänotypischer Auffälligkeiten ist für die klinische Diagnostik und für unser wissenschaftliches Verständnis von Erkrankungen von... 
Human Genetics | Pediatrics | Biomedicine | Obstetrics/Perinatology | Human Phenotype Ontology (HPO) | Biomedical ontology | Differential diagnosis | Differenzialdiagnostik | Phenomizer | Biomedizinische Ontologien | Reproductive Medicine | Human Phenotype Ontology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Journal Article
INTERNATIONAL JOURNAL OF DATA MINING AND BIOINFORMATICS, ISSN 1748-5673, 2017, Volume 17, Issue 2, pp. 173 - 188
It is critical yet remains to be challenging to make precise disease diagnosis from complex clinical features and highly heterogeneous genetic background.... 
causative gene prediction | MATHEMATICAL & COMPUTATIONAL BIOLOGY | noise reduction | semantic similarity | UNIFICATION | WEB TOOL | disease prediction | GENE ONTOLOGY | human phenotpe ontology | phenotype similarity | DIAGNOSTICS | HUMAN PHENOTYPE ONTOLOGY
Journal Article
Journal Article
by Pinto, Dalila and Delaby, Elsa and Merico, Daniele and Barbosa, Mafalda and Merikangas, Alison and Klei, Lambertus and Thiruvahindrapuram, Bhooma and Xu, Xiao and Ziman, Robert and Wang, Zhuozhi and Vorstman, Jacob A.S and Thompson, Ann and Regan, Regina and Pilorge, Marion and Pellecchia, Giovanna and Pagnamenta, Alistair T and Oliveira, Guiomar and Oliveira, Bárbara and Marshall, Christian R and Magalhaes, Tiago R and Lowe, Jennifer K and Howe, Jennifer L and Griswold, Anthony J and Gilbert, John and Duketis, Eftichia and Dombroski, Beth A and De Jonge, Maretha V and Cuccaro, Michael and Crawford, Emily L and Correia, Catarina T and Conroy, Judith and Conceição, Inês C and Chiocchetti, Andreas G and Casey, Graham and Casey, Jillian P and Cai, Guiqing and Cabrol, Christelle and Bolshakova, Nadia and Bacchelli, Elena and Anney, Richard and Gallinger, Steven and Cotterchio, Michelle and Zwaigenbaum, Lonnie and Wittemeyer, Kerstin and Wing, Kirsty and Wallace, Simon and van Engeland, Herman and Tryfon, Ana and Thomson, Susanne and Soorya, Latha and Rogé, Bernadette and Roberts, Wendy and Poustka, Fritz and Mouga, Susana and Minshew, Nancy and McInnes, L. Alison and McGrew, Susan G and Lord, Catherine and Leboyer, Marion and Le Couteur, Ann S and Kolevzon, Alexander and Jiménez González, Patricia and Jacob, Suma and Holt, Richard and Guter, Stephen and Green, Jonathan and Green, Andrew and Gillberg, Christopher and Fernandez, Bridget A and Duque, Frederico and Delorme, Richard and Dawson, Geraldine and Chaste, Pauline and Café, Cátia and Brennan, Sean and Bourgeron, Thomas and Bolton, Patrick F and Bölte, Sven and Bernier, Raphael and Baird, Gillian and Bailey, Anthony J and Anagnostou, Evdokia and Almeida, Joana and Wijsman, Ellen M and Vieland, Veronica J and Vicente, Astrid M and Schellenberg, Gerard D and Pericak-Vance, Margaret and Paterson, Andrew D and Parr, Jeremy R and Nurnberger, John I and Monaco, Anthony P and Maestrini, Elena and Klauck, Sabine M and Hakonarson, Hakon and Haines, Jonathan L and Geschwind, Daniel H and Freitag, Christine M and Folstein, Susan E and Ennis, Sean and ... and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Journal Article