{"id":"http://purl.bioontology.org/ontology/MESH/D015785","synonym":["Hereditary Eye Disease","Eye Disease, Hereditary","Hereditary Eye Diseases"],"notation":"D015785","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0015398"],"prefLabel":"Eye Diseases, Hereditary","definition":["Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D005128","http://purl.bioontology.org/ontology/MESH/D030342"],"parents":[{"id":"http://purl.bioontology.org/ontology/MESH/D005128","synonym":["Eye Disorders","Eye Disorder","Eye Disease"],"notation":"D005128","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0015397"],"prefLabel":"Eye Diseases","definition":["Diseases affecting the eye."],"subClassOf":["http://www.w3.org/2002/07/owl#Thing"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D005128","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD005128","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}},{"id":"http://purl.bioontology.org/ontology/MESH/D030342","synonym":["Disorders, Genetic","Disease, Hereditary","Single-Gene Defects","Diseases, Inborn Genetic","Inborn Genetic Disease","Genetic Disorder","Disorder, Genetic","Diseases, Genetic","Genetic Disease","Single Gene Defects","Defects, Single-Gene","Diseases, Hereditary","Single-Gene Defect","Disease, Inborn Genetic","Disease, Genetic","Hereditary Diseases","Defect, Single-Gene","Genetic Disorders","Genetic Diseases","Hereditary Disease","Inborn Genetic Diseases","Genetic Disease, Inborn"],"notation":"D030342","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0950123","C0037176","C0019247"],"prefLabel":"Genetic Diseases, Inborn","definition":["Diseases caused by genetic mutations that are inherited from a parent's genome.","Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D009358"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D030342","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD030342","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}],"label":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["Hereditary Eye Disease","Eye Disease, Hereditary","Hereditary Eye Diseases"],"http://purl.bioontology.org/ontology/MESH/PM":["90"],"http://purl.bioontology.org/ontology/MESH/HN":["90"],"http://purl.bioontology.org/ontology/MESH/mapped_from":["http://purl.bioontology.org/ontology/MESH/C566474","http://purl.bioontology.org/ontology/MESH/C566475","http://purl.bioontology.org/ontology/MESH/C566160","http://purl.bioontology.org/ontology/MESH/C565856","http://purl.bioontology.org/ontology/MESH/C565285","http://purl.bioontology.org/ontology/MESH/C564866","http://purl.bioontology.org/ontology/MESH/C566869","http://purl.bioontology.org/ontology/MESH/C563710","http://purl.bioontology.org/ontology/MESH/C567572","http://purl.bioontology.org/ontology/MESH/C563709","http://purl.bioontology.org/ontology/MESH/C563701","http://purl.bioontology.org/ontology/MESH/C565725","http://purl.bioontology.org/ontology/MESH/C564392","http://purl.bioontology.org/ontology/MESH/C566748","http://purl.bioontology.org/ontology/MESH/C566651","http://purl.bioontology.org/ontology/MESH/C563426","http://purl.bioontology.org/ontology/MESH/C564750","http://purl.bioontology.org/ontology/MESH/C537743","http://purl.bioontology.org/ontology/MESH/C564110","http://purl.bioontology.org/ontology/MESH/C567739","http://purl.bioontology.org/ontology/MESH/C567710","http://purl.bioontology.org/ontology/MESH/C567704","http://purl.bioontology.org/ontology/MESH/C565497","http://purl.bioontology.org/ontology/MESH/C565564","http://purl.bioontology.org/ontology/MESH/C536352","http://purl.bioontology.org/ontology/MESH/C563728","http://purl.bioontology.org/ontology/MESH/C563501","http://purl.bioontology.org/ontology/MESH/C535679","http://purl.bioontology.org/ontology/MESH/C567518","http://purl.bioontology.org/ontology/MESH/C566801","http://purl.bioontology.org/ontology/MESH/C565677","http://purl.bioontology.org/ontology/MESH/C567666","http://purl.bioontology.org/ontology/MESH/C566898","http://purl.bioontology.org/ontology/MESH/C566587","http://purl.bioontology.org/ontology/MESH/C566923","http://purl.bioontology.org/ontology/MESH/C566924","http://purl.bioontology.org/ontology/MESH/C566966","http://purl.bioontology.org/ontology/MESH/C564206","http://purl.bioontology.org/ontology/MESH/C536122","http://purl.bioontology.org/ontology/MESH/C564183","http://purl.bioontology.org/ontology/MESH/C563034","http://purl.bioontology.org/ontology/MESH/C565005","http://purl.bioontology.org/ontology/MESH/C565006","http://purl.bioontology.org/ontology/MESH/C565158","http://purl.bioontology.org/ontology/MESH/C566307","http://purl.bioontology.org/ontology/MESH/C562829","http://purl.bioontology.org/ontology/MESH/C562827","http://purl.bioontology.org/ontology/MESH/C567358","http://purl.bioontology.org/ontology/MESH/C565741","http://purl.bioontology.org/ontology/MESH/C565179","http://purl.bioontology.org/ontology/MESH/C563086","http://purl.bioontology.org/ontology/MESH/C562401","http://purl.bioontology.org/ontology/MESH/C565530","http://purl.bioontology.org/ontology/MESH/C565423","http://purl.bioontology.org/ontology/MESH/C564839","http://purl.bioontology.org/ontology/MESH/C564835","http://purl.bioontology.org/ontology/MESH/C565379","http://purl.bioontology.org/ontology/MESH/C564243","http://purl.bioontology.org/ontology/MESH/C567759","http://purl.bioontology.org/ontology/MESH/C566720","http://purl.bioontology.org/ontology/MESH/C563221"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/MESH/TERMUI":["T046812","T046813"],"http://purl.bioontology.org/ontology/MESH/TH":["NLM (1990)"],"http://purl.bioontology.org/ontology/MESH/MMR":["20190617"],"http://www.w3.org/2004/02/skos/core#notation":["D015785"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/MESH/QB":["http://purl.bioontology.org/ontology/MESH/Q000097","http://purl.bioontology.org/ontology/MESH/Q000178","http://purl.bioontology.org/ontology/MESH/Q000175","http://purl.bioontology.org/ontology/MESH/Q000628","http://purl.bioontology.org/ontology/MESH/Q000276","http://purl.bioontology.org/ontology/MESH/Q000134","http://purl.bioontology.org/ontology/MESH/Q000139","http://purl.bioontology.org/ontology/MESH/Q000266","http://purl.bioontology.org/ontology/MESH/Q000378","http://purl.bioontology.org/ontology/MESH/Q000517","http://purl.bioontology.org/ontology/MESH/Q000662","http://purl.bioontology.org/ontology/MESH/Q000469","http://purl.bioontology.org/ontology/MESH/Q000150","http://purl.bioontology.org/ontology/MESH/Q000821","http://purl.bioontology.org/ontology/MESH/Q000191","http://purl.bioontology.org/ontology/MESH/Q000196","http://purl.bioontology.org/ontology/MESH/Q000473","http://purl.bioontology.org/ontology/MESH/Q000145","http://purl.bioontology.org/ontology/MESH/Q000382","http://purl.bioontology.org/ontology/MESH/Q000451","http://purl.bioontology.org/ontology/MESH/Q000453","http://purl.bioontology.org/ontology/MESH/Q000534","http://purl.bioontology.org/ontology/MESH/Q000532","http://purl.bioontology.org/ontology/MESH/Q000503","http://purl.bioontology.org/ontology/MESH/Q000188","http://purl.bioontology.org/ontology/MESH/Q000235","http://purl.bioontology.org/ontology/MESH/Q000201","http://purl.bioontology.org/ontology/MESH/Q000209","http://purl.bioontology.org/ontology/MESH/Q000208","http://purl.bioontology.org/ontology/MESH/Q000601","http://purl.bioontology.org/ontology/MESH/Q000000981","http://purl.bioontology.org/ontology/MESH/Q000652","http://purl.bioontology.org/ontology/MESH/Q000523","http://purl.bioontology.org/ontology/MESH/Q000401"],"http://purl.bioontology.org/ontology/MESH/DX":["19900101"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0015398"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Eye Diseases, Hereditary"],"http://purl.bioontology.org/ontology/MESH/DC":["1"],"http://www.w3.org/2004/02/skos/core#definition":["Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder."],"http://purl.bioontology.org/ontology/MESH/MN":["C16.320.290","C11.270"],"http://purl.bioontology.org/ontology/MESH/AQL":["BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI"],"http://purl.bioontology.org/ontology/MESH/MDA":["19990101"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/MESH/D005128","http://purl.bioontology.org/ontology/MESH/D030342"]},"@id":"http://purl.bioontology.org/ontology/MESH/D015785","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD015785","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fcf92237cd8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}