{"id":"http://purl.bioontology.org/ontology/MESH/D000699","synonym":["Congenital Pain Indifferences","Insensitivity To Pain, Congenital","Congenital Insensitivity To Pain","Congenital Pain Insensitivity","Congenital Indifference to Pain","Pain Indifference, Congenital","Channelopathy-Associated Insensitivity To Pain","Insensitivity, Congenital Pain","Congenital Analgesia","Analgesia, Congenital","Congenital Pain Indifference"],"notation":"D000699","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0002768"],"prefLabel":"Pain Insensitivity, Congenital","definition":["A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D010523","http://purl.bioontology.org/ontology/MESH/D030342"],"parents":[{"id":"http://purl.bioontology.org/ontology/MESH/D010523","synonym":["Peripheral Neuropathy","Peripheral Nervous System Disease","Peripheral Neuropathies","Neuropathy, Peripheral","Peripheral Nervous System Disorders","Nerve Disease, Peripheral","Peripheral Nerve Diseases","Peripheral Nerve Disease","Nerve Diseases, Peripheral","PNS (Peripheral Nervous System) Diseases","PNS Disease","PNS Diseases"],"notation":"D010523","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4721453"],"prefLabel":"Peripheral Nervous System Diseases","definition":["Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D009468"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D010523","@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%2FD010523","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD010523","@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":["Congenital Pain Indifferences","Insensitivity To Pain, Congenital","Congenital Insensitivity To Pain","Congenital Pain Insensitivity","Congenital Indifference to Pain","Pain Indifference, Congenital","Channelopathy-Associated Insensitivity To Pain","Insensitivity, Congenital Pain","Congenital Analgesia","Analgesia, Congenital","Congenital Pain Indifference"],"http://purl.bioontology.org/ontology/MESH/PM":["96; was ANALGESIA, CONGENITAL 1973-95; PAIN INSENSITIVITY, CONGENITAL was see ANALGESIA, CONGENITAL 1973-95"],"http://purl.bioontology.org/ontology/MESH/HN":["96; was ANALGESIA, CONGENITAL 1964-95 (Prov 1964-72); PAIN INSENSITIVITY, CONGENITAL was see ANALGESIA, CONGENITAL 1973-95"],"http://purl.bioontology.org/ontology/MESH/mapped_from":["http://purl.bioontology.org/ontology/MESH/C564128","http://purl.bioontology.org/ontology/MESH/C565467"],"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":["T371104","T002116","T002115","T002114","T002112","T841183","T371103","T833653","T002113","T841182","T841181"],"http://purl.bioontology.org/ontology/MESH/TH":["NLM (1996)","OMIM (2013)","NLM (2000)","UNK (19XX)","GHR (2014)","NLM (1964)","NLM (2014)"],"http://purl.bioontology.org/ontology/MESH/MMR":["20180701"],"http://www.w3.org/2004/02/skos/core#notation":["D000699"],"http://purl.bioontology.org/ontology/MESH/RO":["http://purl.bioontology.org/ontology/MESH/D009477","http://purl.bioontology.org/ontology/MESH/D010146"],"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/FX":["D010146","D009477"],"http://purl.bioontology.org/ontology/MESH/DX":["19730101"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0002768"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Pain Insensitivity, Congenital"],"http://purl.bioontology.org/ontology/MESH/DC":["1"],"http://www.w3.org/2004/02/skos/core#definition":["A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"],"http://purl.bioontology.org/ontology/MESH/MN":["C10.668.829.700","C16.320.775"],"http://purl.bioontology.org/ontology/MESH/AN":["congenital insensitivity to pain with anhidrosis = HSAN TYPE IV see NEUROPATHIES, HEREDITARY SENSORY AND AUTONOMIC"],"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/OL":["use PAIN INSENSITIVITY, CONGENITAL to search ANALGESIA, CONGENITAL 1966-95 (as Prov 1966-72)"],"http://purl.bioontology.org/ontology/MESH/MDA":["19990101"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/MESH/D010523","http://purl.bioontology.org/ontology/MESH/D030342"]},"@id":"http://purl.bioontology.org/ontology/MESH/D000699","@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%2FD000699","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD000699","@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:0x00007fa705585440 /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":[]}}