{"id":"https://openalex.org/W7223401602","doi":"https://doi.org/10.1186/s13005-026-00662-6","title":"Recording of orofacial manifestations associated to rare diseases: development of a relational database","display_name":"Recording of orofacial manifestations associated to rare diseases: development of a relational database","publication_year":2026,"publication_date":"2026-10-24","ids":{"openalex":"https://openalex.org/W7223401602","doi":"https://doi.org/10.1186/s13005-026-00662-6","pmid":"https://pubmed.ncbi.nlm.nih.gov/42926204","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13695274"},"language":"en","primary_location":{"id":"doi:10.1186/s13005-026-00662-6","doi":"https://doi.org/10.1186/s13005-026-00662-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13005-026-00662-6","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13005-026-00662-6.pdf","source":{"id":"https://openalex.org/S4480651","display_name":"Head & Face Medicine","issn_l":"1746-160X","issn":["1746-160X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Head &amp; Face Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://link.springer.com/content/pdf/10.1186/s13005-026-00662-6.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054928221","display_name":"Sulamita Lemos Lima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4104125","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887","country_code":"BR","type":"education","lineage":["https://openalex.org/I4104125"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Sulamita Lemos Lima","raw_affiliation_strings":["Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil","institution_ids":["https://openalex.org/I4104125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066777093","display_name":"Ricardo Armini Caldas","orcid":"https://orcid.org/0000-0002-5362-4744","observed_orcids":["https://orcid.org/0000-0002-5362-4744"]},"institutions":[{"id":"https://openalex.org/I4104125","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887","country_code":"BR","type":"education","lineage":["https://openalex.org/I4104125"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Ricardo Armini Caldas","raw_affiliation_strings":["Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil","institution_ids":["https://openalex.org/I4104125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159351856","display_name":"Marcus Paulo Amorim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4104125","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887","country_code":"BR","type":"education","lineage":["https://openalex.org/I4104125"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Marcus Paulo Amorim","raw_affiliation_strings":["Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil","institution_ids":["https://openalex.org/I4104125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5095779101","display_name":"Jo\u00e3o Victor Cunha Cordeiro","orcid":"https://orcid.org/0009-0009-9394-9787","observed_orcids":["https://orcid.org/0009-0009-9394-9787"]},"institutions":[{"id":"https://openalex.org/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jo\u00e3o Victor Cunha Cordeiro","raw_affiliation_strings":["Department of Prosthodontics and Periodontology, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics and Periodontology, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I181391015"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087358372","display_name":"Ole Oelerich","orcid":"https://orcid.org/0000-0002-9177-1999","observed_orcids":["https://orcid.org/0000-0002-9177-1999"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ole Oelerich","raw_affiliation_strings":["Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011294508","display_name":"Linda Daume","orcid":"https://orcid.org/0000-0002-3958-8855","observed_orcids":["https://orcid.org/0000-0002-3958-8855"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Linda Daume","raw_affiliation_strings":["Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032922215","display_name":"Johannes Kleinheinz","orcid":"https://orcid.org/0000-0003-0012-6140","observed_orcids":["https://orcid.org/0000-0003-0012-6140"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Johannes Kleinheinz","raw_affiliation_strings":["Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059465595","display_name":"Marcel Ren\u00e9 Hanisch","orcid":"https://orcid.org/0000-0001-5943-8718","observed_orcids":["https://orcid.org/0000-0001-5943-8718"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Marcel Hanisch","raw_affiliation_strings":["Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany. marcel.hanisch@ukmuenster.de"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany. marcel.hanisch@ukmuenster.de","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059461652","display_name":"Lauren Oliveira Lima Bohner","orcid":"https://orcid.org/0000-0003-3637-3928","observed_orcids":["https://orcid.org/0000-0003-3637-3928"]},"institutions":[{"id":"https://openalex.org/I4104125","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887","country_code":"BR","type":"education","lineage":["https://openalex.org/I4104125"]},{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["BR","DE"],"is_corresponding":false,"raw_author_name":"Lauren Bohner","raw_affiliation_strings":["Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany","Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstra\u00dfe 30, Muenster, 48149, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Department of Dentistry, Federal University of Santa Catarina, Florian\u00f3polis, Brazil","institution_ids":["https://openalex.org/I4104125"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5059465595"],"corresponding_institution_ids":["https://openalex.org/I4210103666"],"apc_list":{"value":2890,"currency":"USD","value_usd":2890},"apc_paid":{"value":2890,"currency":"USD","value_usd":2890},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.74778168,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"22","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8618000149726868,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.8618000149726868,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.040300000458955765,"subfield":{"id":"https://openalex.org/subfields/2718","display_name":"Health Informatics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11374","display_name":"Cleft Lip and Palate Research","score":0.011800000444054604,"subfield":{"id":"https://openalex.org/subfields/3504","display_name":"Oral Surgery"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.996999979019165},{"id":"https://openalex.org/keywords/orofacial-manifestations","display_name":"orofacial manifestations","score":1.0},{"id":"https://openalex.org/keywords/relational-databases","display_name":"relational databases","score":0.8040000200271606},{"id":"https://openalex.org/keywords/orphanet","display_name":"Orphanet","score":0.7260000109672546},{"id":"https://openalex.org/keywords/human-phenotype-ontology","display_name":"Human Phenotype Ontology","score":0.9980000257492065},{"id":"https://openalex.org/keywords/oral-manifestations","display_name":"oral manifestations","score":0.753000020980835},{"id":"https://openalex.org/keywords/dental-manifestations","display_name":"dental manifestations","score":0.6330000162124634},{"id":"https://openalex.org/keywords/craniofacial-abnormalities","display_name":"craniofacial anomalies","score":0.9850000143051147},{"id":"https://openalex.org/keywords/clinical-signs-and-symptoms","display_name":"clinical signs and symptoms","score":0.7910000085830688}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7074000239372253},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.5874000191688538},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.5092999935150146},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.44020000100135803},{"id":"https://openalex.org/C2778636310","wikidata":"https://www.wikidata.org/wiki/Q504033","display_name":"Oral and maxillofacial surgery","level":2,"score":0.41839998960494995},{"id":"https://openalex.org/C5655090","wikidata":"https://www.wikidata.org/wiki/Q192588","display_name":"Relational database","level":2,"score":0.38760000467300415},{"id":"https://openalex.org/C108516343","wikidata":"https://www.wikidata.org/wiki/Q189553","display_name":"Otorhinolaryngology","level":2,"score":0.3781999945640564},{"id":"https://openalex.org/C154504017","wikidata":"https://www.wikidata.org/wiki/Q853614","display_name":"Identifier","level":2,"score":0.3750999867916107},{"id":"https://openalex.org/C195910791","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Medical record","level":2,"score":0.3749000132083893},{"id":"https://openalex.org/C3018875020","wikidata":"https://www.wikidata.org/wiki/Q1441305","display_name":"Signs and symptoms","level":2,"score":0.3700999915599823},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.36390000581741333},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.3513999879360199},{"id":"https://openalex.org/C2781463296","wikidata":"https://www.wikidata.org/wiki/Q17149257","display_name":"Orofacial pain","level":2,"score":0.3497999906539917},{"id":"https://openalex.org/C54510867","wikidata":"https://www.wikidata.org/wiki/Q2508462","display_name":"Oral and maxillofacial pathology","level":2,"score":0.301800012588501},{"id":"https://openalex.org/C3018822202","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Patient data","level":2,"score":0.287200003862381},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.28349998593330383},{"id":"https://openalex.org/C119839945","wikidata":"https://www.wikidata.org/wiki/Q6545185","display_name":"Unique identifier","level":3,"score":0.27900001406669617},{"id":"https://openalex.org/C3019150057","wikidata":"https://www.wikidata.org/wiki/Q92779279","display_name":"Medical information","level":2,"score":0.2711000144481659},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2703000009059906},{"id":"https://openalex.org/C2778951934","wikidata":"https://www.wikidata.org/wiki/Q5182137","display_name":"Craniofacial abnormality","level":3,"score":0.26089999079704285},{"id":"https://openalex.org/C206179267","wikidata":"https://www.wikidata.org/wiki/Q188952","display_name":"Medical history","level":2,"score":0.25619998574256897}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009059","descriptor_name":"Mouth Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D009059","descriptor_name":"Mouth Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1186/s13005-026-00662-6","doi":"https://doi.org/10.1186/s13005-026-00662-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13005-026-00662-6","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13005-026-00662-6.pdf","source":{"id":"https://openalex.org/S4480651","display_name":"Head & Face Medicine","issn_l":"1746-160X","issn":["1746-160X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Head &amp; Face Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13695274","doi":null,"is_oa":true,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42926204/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13695274/pdf/13005_2026_Article_662.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Head Face Med","raw_type":"Text"},{"id":"pmid:42926204","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42926204","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Head & face medicine","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:6f76c222f7114fa5ba3ccbc65bca0830","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/6f76c222f7114fa5ba3ccbc65bca0830","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Head & Face Medicine, Vol 22, Iss 1 (2026)","raw_type":"article"},{"id":"doi:10.6084/m9.figshare.c.8795113","doi":"https://doi.org/10.6084/m9.figshare.c.8795113","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8795113","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"},{"id":"doi:10.6084/m9.figshare.c.8795113.v1","doi":"https://doi.org/10.6084/m9.figshare.c.8795113.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8795113.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"}],"best_oa_location":{"id":"doi:10.1186/s13005-026-00662-6","doi":"https://doi.org/10.1186/s13005-026-00662-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13005-026-00662-6","pdf_url":"https://link.springer.com/content/pdf/10.1186/s13005-026-00662-6.pdf","source":{"id":"https://openalex.org/S4480651","display_name":"Head & Face Medicine","issn_l":"1746-160X","issn":["1746-160X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Head &amp; Face Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8999999761581421}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321091","display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","ror":"https://ror.org/00x0ma614"},{"id":"https://openalex.org/F4320322025","display_name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","ror":"https://ror.org/03swz6y49"},{"id":"https://openalex.org/F4320324147","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223401602.pdf","grobid_xml":"https://content.openalex.org/works/W7223401602.grobid-xml"},"referenced_works_count":1,"referenced_works":["https://openalex.org/W2170288464"],"related_works":["https://openalex.org/W7223557370","https://openalex.org/W2590750580","https://openalex.org/W2912106933","https://openalex.org/W4292824628","https://openalex.org/W4388890563","https://openalex.org/W3041813733","https://openalex.org/W7135498812","https://openalex.org/W2917296091","https://openalex.org/W6920752520","https://openalex.org/W4413127485"],"abstract_inverted_index":{"BACKGROUND:":[0],"A":[1],"rare":[2,61,80,132,185,202,228],"disease":[3],"is":[4,52,238],"any":[5],"condition":[6],"that":[7],"affects":[8],"no":[9],"more":[10],"than":[11],"one":[12,191],"in":[13,17,27,35,150,180],"every":[14],"2.000":[15],"individuals":[16],"a":[18,36,71],"given":[19],"population.":[20],"These":[21],"diseases":[22,229],"have":[23],"varied":[24],"causes,":[25],"which,":[26],"many":[28],"cases,":[29],"hinders":[30],"early":[31],"diagnosis":[32],"and":[33,92,115,136,146,213,243],"results":[34],"poor":[37],"quality":[38],"of":[39,65,220,235],"life.":[40],"Due":[41],"to":[42,57,69,79,88,102,111,226,240,246],"their":[43],"low":[44],"incidence,":[45],"the":[46,55,95,113,116,120,125,153,160,197,218,236],"information":[47,75,130],"available":[48],"on":[49],"these":[50],"conditions":[51,198],"limited,":[53],"highlighting":[54],"need":[56],"expand":[58],"knowledge":[59],"regarding":[60],"diseases.":[62,81],"The":[63,98,163],"purpose":[64],"this":[66,221],"study":[67],"was":[68,85,124,142,167,224],"create":[70],"relational":[72,164],"database":[73,237],"containing":[74],"orofacial":[76,96,104,118,192,231],"manifestations":[77,105,177,195],"associated":[78,200],"METHODS:":[82],"Medical":[83],"literature":[84],"systematically":[86],"assessed":[87],"identify":[89,103],"clinical":[90],"signs":[91],"symptoms":[93],"affecting":[94],"region.":[97],"findings":[99],"were":[100,148,178,196],"clustered":[101],"with":[106,201],"common":[107],"characteristics.":[108],"In":[109,173],"order":[110],"map":[112,227],"RDs":[114],"related":[117],"manifestations,":[119,208,210],"primary":[121],"data":[122,165],"source":[123],"platform":[126],"Orphanet,":[127],"from":[128],"which":[129],"about":[131],"diseases,":[133,186,203],"medical":[134],"terminologies,":[135],"\"Human":[137],"Phenotype":[138],"Ontology\"":[139],"(HPO)":[140],"identifiers":[141],"retrieved.":[143],"Data":[144],"retrieval":[145],"wrangling":[147],"conducted":[149],"Python":[151],"using":[152,169],"Spyder":[154],"integrated":[155],"development":[156,234],"environment":[157],"(IDE)":[158],"within":[159],"Anaconda":[161],"distribution.":[162],"frame":[166],"modeled":[168],"MySQL":[170],"Workbench.":[171],"RESULTS:":[172],"total,":[174],"258":[175],"oral":[176,206],"classified":[179],"11":[181],"groups.":[182],"From":[183],"all":[184],"863":[187],"presented":[188],"at":[189],"least":[190],"manifestation.":[193,215],"Bone/skeletal":[194],"mostly":[199],"followed":[204],"by":[205],"mucosal":[207],"dental":[209],"craniofacial":[211],"anomalies,":[212],"neoplasic":[214],"CONCLUSION:":[216],"Within":[217],"limitations":[219],"study,":[222],"it":[223],"possible":[225],"presenting":[230],"manifestations.":[232],"Further":[233],"required":[239],"provide":[241],"technical":[242],"scientific":[244],"support":[245],"professionals.":[247]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-24T00:00:00"}
