{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/715217004","synonym":["Oculomelic amyoplasia","Distal arthrogryposis type 5","Distal arthrogryposis type 5 (disorder)","Distal arthrogryposis with ophthalmoplegia"],"notation":"715217004","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1862472"],"prefLabel":"Arthrogryposis with oculomotor limitation and electroretinal anomaly","definition":["An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.","An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/24269006"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/24269006","synonym":["Distal arthrogryposis","Distal arthrogryposis syndrome (disorder)"],"notation":"24269006","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0265213"],"prefLabel":"Distal arthrogryposis syndrome","definition":["A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/111246005","http://purl.bioontology.org/ontology/SNOMEDCT/782964007"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/SNOMEDCT/24269006","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006","ontology":"https://data.bioontology.org/ontologies/SNOMEDCT","children":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/children","parents":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/parents","descendants":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/descendants","ancestors":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/ancestors","instances":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/instances","tree":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/tree","notes":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/notes","mappings":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006/mappings","ui":"http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F24269006","@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://purl.bioontology.org/ontology/SNOMEDCT/TYPE_ID":["900000000000003001","900000000000013009"],"http://purl.bioontology.org/ontology/SNOMEDCT/CASE_SIGNIFICANCE_ID":["900000000000448009"],"http://www.w3.org/2004/02/skos/core#notation":["715217004"],"http://www.w3.org/2004/02/skos/core#altLabel":["Oculomelic amyoplasia","Distal arthrogryposis type 5","Distal arthrogryposis type 5 (disorder)","Distal arthrogryposis with ophthalmoplegia"],"http://purl.bioontology.org/ontology/SNOMEDCT/EFFECTIVE_TIME":["20160731"],"http://purl.bioontology.org/ontology/SNOMEDCT/ACTIVE":["1"],"http://purl.bioontology.org/ontology/SNOMEDCT/has_finding_site":["http://purl.bioontology.org/ontology/SNOMEDCT/785818007","http://purl.bioontology.org/ontology/SNOMEDCT/773190007"],"http://purl.bioontology.org/ontology/SNOMEDCT/interprets":["http://purl.bioontology.org/ontology/SNOMEDCT/364564000"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Arthrogryposis with oculomotor limitation and electroretinal anomaly"],"http://purl.bioontology.org/ontology/SNOMEDCT/has_pathological_process":["http://purl.bioontology.org/ontology/SNOMEDCT/308490002"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/24269006"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://www.w3.org/2004/02/skos/core#definition":["An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.","An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal."],"http://purl.bioontology.org/ontology/SNOMEDCT/has_interpretation":["http://purl.bioontology.org/ontology/SNOMEDCT/1250004"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/SNOMEDCT/SUBSET_MEMBER":["6011000124106~MAPTARGET~H49.00","447562003~MAPRULE~TRUE","6011000124106~MAPADVICE~ALWAYS Q68.8","6011000124106~MAPTARGET~Q74.3","900000000000497000~MAPTARGET~XUtBJ","6011000124106~MAPGROUP~1","6011000124106~MAPGROUP~2","900000000000508004~ACCEPTABILITYID~900000000000549004","447562003~MAPGROUP~1","447562003~CORRELATIONID~447561005","6011000124106~MAPCATEGORYID~447637006","900000000000509007~ACCEPTABILITYID~900000000000548007","6011000124106~MAPADVICE~ALWAYS Q74.3","447562003~MAPADVICE~ALWAYS Q68.8 &#x7C; POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION","900000000000508004~ACCEPTABILITYID~900000000000548007","447562003~MAPPRIORITY~1","447562003~MAPCATEGORYID~447637006","6011000124106~MAPADVICE~ALWAYS Q14.1","6011000124106~MAPTARGET~Q68.8","6011000124106~MAPPRIORITY~1","6011000124106~CORRELATIONID~447561005","6011000124106~MAPTARGET~Q14.1","6011000124106~MAPRULE~TRUE","6011000124106~MAPGROUP~3","447562003~MAPTARGET~Q68.8","6011000124106~MAPADVICE~ALWAYS H49.00 &#x7C; CONSIDER LATERALITY SPECIFICATION","900000000000509007~ACCEPTABILITYID~900000000000549004"],"http://purl.bioontology.org/ontology/SNOMEDCT/DEFINITION_STATUS_ID":["900000000000074008"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/SNOMEDCT/CTV3ID":["XUtBJ"],"http://purl.bioontology.org/ontology/SNOMEDCT/occurs_in":["http://purl.bioontology.org/ontology/SNOMEDCT/255399007"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1862472"],"http://purl.bioontology.org/ontology/SNOMEDCT/has_associated_morphology":["http://purl.bioontology.org/ontology/SNOMEDCT/57048009"]},"@id":"http://purl.bioontology.org/ontology/SNOMEDCT/715217004","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004","ontology":"https://data.bioontology.org/ontologies/SNOMEDCT","children":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/children","parents":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/parents","descendants":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/descendants","ancestors":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/ancestors","instances":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/instances","tree":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/tree","notes":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/notes","mappings":"https://data.bioontology.org/ontologies/SNOMEDCT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004/mappings","ui":"http://bioportal.bioontology.org/ontologies/SNOMEDCT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSNOMEDCT%2F715217004","@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:0x00007f76cfcfc090 /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":[]}}