Ontological phenotype standards for neurogenetics

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1333-1339

  Köhler, Sebastian ^a   Doelken, Sandra C ^a   Rath, Ana ^b   Aymé, Ségolène ^b   Robinson, Peter N ^a,c  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b INSERM   (France)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Data integration; Neurogenetics; Ontology; Orphan diseases; Phenotype

Indexed keywords

ARTICLE; AUTOMATION; CLUSTER ANALYSIS; DISEASE CLASSIFICATION; GENETIC DISORDER; HUMAN; HUMAN PHENOTYPE ONTOLOGY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; SEMANTICS;

CLUSTER ANALYSIS; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFORMATION STORAGE AND RETRIEVAL; NERVOUS SYSTEM DISEASES; PHENOTYPE; REFERENCE STANDARDS; SOFTWARE;

EID: 84865196713     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22112     Document Type: Article

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