syndromtology.ttl # Syndrome Ontology, created by Sunshine Weiss 2011 @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#>. # This turtle file contains the definitions for the Syndrome Ontology @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#>. # Contains rdf and rdfs prefixes. @prefix syi: <http://sunshine.com/dysmorph/>. # Prefix for instances in the syndrome ontology @prefix syo: <http://sunshine.com/ns#>. # Prefix for the syndrome ontology syo:thing rdf:type rdfs:Class. # defines thing as a Class syo:feature rdfs:subClassOf syo:thing. # defines a patient's feature, eg syndactyly, hypotonia or anemia, as a thing syo:syndrome rdfs:subClassOf syo:thing. # defines syndrome, a medical syndrome or malformation such as Down Syndrome, as a thing syo:medicalCategory rdfs:subClassOf syo:thing. # defines medicalCategory as an anatomic or physiologic category, eg limb, as a thing syo:featureOf rdf:type rdf:property; # a feature, such as a physical finding or lab value is associated with a syndrome rdfs:domain syo:feature; # future versions of this ontology may include sensitivity and specificity data rdfs:range syo:syndrome. syo:name rdf:type rdf:property; # things have string literal names so they are easier to read rdfs:domain syo:thing; rdfs:range rdf:literal. syo:nickName rdf:type rdf:property; # things have nickNames which serve as aliases, including alternate eponyms rdfs:domain syo:thing; rdfs:range rdf:literal. syo:description rdf:type rdf:property; # eventually, things will have descriptions rdfs:domain syo:thing; rdfs:range rdf:literal. syo:inCategory rdf:type rdf:property; # categories can have subcategories, and each feature belongs to at least one category. rdfs:domain syo:thing; rdfs:range syo:medicalCategory. syo:HeadAndNeck rdf:type syo:medicalCategory. # Categories from OMIM are semantically related. syo:Head rdf:type syo:medicalCategory; syo:inCategory syo:HeadAndNeck. syo:Skull rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Cranium rdf:type syo:medicalCategory; syo:inCategory syo:Skull. syo:Brain rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Ears rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Eyes rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Facies rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Nose rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Mouth rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Teeth rdf:type syo:medicalCategory; syo:inCategory syo:Mouth. syo:Tongue rdf:type syo:medicalCategory; syo:inCategory syo:Mouth. syo:Thymus rdf:type syo:medicalCategory. syo:Mandible rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Scalp rdf:type syo:medicalCategory; syo:inCategory syo:Head. syo:Neck rdf:type syo:medicalCategory; syo:inCategory syo:HeadAndNeck. syo:Voice rdf:type syo:medicalCategory. syo:Neurologic rdf:type syo:medicalCategory. syo:Hair rdf:type syo:medicalCategory. syo:Nails rdf:type syo:medicalCategory. syo:Skin rdf:type syo:medicalCategory. syo:Cardiovascular rdf:type syo:medicalCategory. syo:Vascular rdf:type syo:medicalCategory; syo:inCategory syo:Cardiovascular. syo:Cardiac rdf:type syo:medicalCategory; syo:inCategory syo:Cardiovascular; syo:inCategory syo:Chest. syo:Chest rdf:type syo:medicalCategory. syo:Lung rdf:type syo:medicalCategory; syo:inCategory syo:Chest. syo:Respiratory rdf:type syo:medicalCategory; syo:inCategory syo:Chest. syo:Abdomen rdf:type syo:medicalCategory. syo:Liver rdf:type syo:medicalCategory; syo:inCategory syo:Abdomen. syo:Pancreas rdf:type syo:medicalCategory; syo:inCategory syo:Abdomen. syo:Gastrointestinal rdf:type syo:medicalCategory. syo:Spleen rdf:type syo:medicalCategory; syo:inCategory syo:Abdomen. syo:Genitourinary rdf:type syo:medicalCategory. syo:Renal rdf:type syo:medicalCategory; syo:inCategory syo:Genitourinary. syo:Skeletal rdf:type syo:medicalCategory. syo:Spine rdf:type syo:medicalCategory; syo:inCategory syo:Skeletal. syo:Joints rdf:type syo:medicalCategory; syo:inCategory syo:Skeletal. syo:Limb rdf:type syo:medicalCategory; syo:inCategory syo:Skeletal. syo:Muscle rdf:type syo:medicalCategory; syo:inCategory syo:Limb. syo:Endocrine rdf:type syo:medicalCategory. syo:Growth rdf:type syo:medicalCategory. syo:Hematologic rdf:type syo:medicalCategory. syo:Oncology rdf:type syo:medicalCategory. syo:Immunologic rdf:type syo:medicalCategory. syo:Lymphatics rdf:type syo:medicalCategory. syo:Metabolic rdf:type syo:medicalCategory. syo:Study rdf:type syo:medicalCategory. syo:Inheritance rdf:type syo:medicalCategory. syo:Gene rdf:type syo:medicalCategory; syo:inCategory syo:Inheritance; syo:inCategory syo:Study. syo:Lab rdf:type syo:medicalCategory; syo:inCategory syo:Study. syo:Radiology rdf:type syo:medicalCategory; syo:inCategory syo:Study. syo:History rdf:type syo:medicalCategory. syo:PregnancyHistory rdf:type syo:medicalCategory; syo:inCategory syo:History. syo:PrenatalExposures rdf:type syo:medicalCategory; syo:inCategory syo:PrenatalHistory. |