Syndrome Ontology Relationship File

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.