Recording of orofacial manifestations associated to rare diseases: development of a relational database.
4 affiliations
- 1Department of Dentistry, Federal University of Santa Catarina, Florianópolis, Brazil.
- 2Department of Prosthodontics and Periodontology, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil.
- 3Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstraße 30, Muenster, 48149, Germany.
- 4Department of Cranio-Maxillofacial Surgery, University Hospital Muenster, Waldeyerstraße 30, Muenster, 48149, Germany. [email protected].
Abstract
Background
A rare disease is any condition that affects no more than one in every 2.000 individuals in a given population. These diseases have varied causes, which, in many cases, hinders early diagnosis and results in a poor quality of life. Due to their low incidence, the information available on these conditions is limited, highlighting the need to expand knowledge regarding rare diseases. The purpose of this study was to create a relational database containing information orofacial manifestations associated to rare diseases.Methods
Medical literature was systematically assessed to identify clinical signs and symptoms affecting the orofacial region. The findings were clustered to identify orofacial manifestations with common characteristics. In order to map the RDs and the related orofacial manifestations, the primary data source was the platform Orphanet, from which information about rare diseases, medical terminologies, and "Human Phenotype Ontology" (HPO) identifiers was retrieved. Data retrieval and wrangling were conducted in Python using the Spyder integrated development environment (IDE) within the Anaconda distribution. The relational data frame was modeled using MySQL Workbench.Results
In total, 258 oral manifestations were classified in 11 groups. From all rare diseases, 863 presented at least one orofacial manifestation. Bone/skeletal manifestations were the conditions mostly associated with rare diseases, followed by oral mucosal manifestations, dental manifestations, craniofacial anomalies, and neoplasic manifestation.Conclusion
Within the limitations of this study, it was possible to map rare diseases presenting orofacial manifestations. Further development of the database is required to provide technical and scientific support to professionals.
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BibTeX
@article{lima2026recording,
title = {{Recording of orofacial manifestations associated to rare diseases: development of a relational database.}},
author = {Sulamita Lemos Lima and Ricardo Armini Caldas and Marcus Paulo Amorim and João Victor Cunha Cordeiro and Ole Oelerich and Linda Daume and Johannes Kleinheinz and Marcel Hanisch and Lauren Bohner},
journal = {Head \& face medicine},
year = {2026},
month = oct,
doi = {10.1186/s13005-026-00662-6},
url = {https://europepmc.org/article/MED/42926204},
note = {CC BY},
}
RIS
TY - JOUR
TI - Recording of orofacial manifestations associated to rare diseases: development of a relational database.
AU - Sulamita Lemos Lima
AU - Ricardo Armini Caldas
AU - Marcus Paulo Amorim
AU - João Victor Cunha Cordeiro
AU - Ole Oelerich
AU - Linda Daume
AU - Johannes Kleinheinz
AU - Marcel Hanisch
AU - Lauren Bohner
PY - 2026
DA - 2026/10/24
JO - Head & face medicine
DO - 10.1186/s13005-026-00662-6
UR - https://europepmc.org/article/MED/42926204
AB - Background A rare disease is any condition that affects no more than one in every 2.000 individuals in a given population. These diseases have varied causes, which, in many cases, hinders early diagnosis and results in a poor quality of life. Due to their low incidence, the information available on these conditions is limited, highlighting the need to expand knowledge regarding rare diseases. The purpose of this study was to create a relational database containing information orofacial manifestations associated to rare diseases.Methods Medical literature was systematically assessed to identify clinical signs and symptoms affecting the orofacial region. The findings were clustered to identify orofacial manifestations with common characteristics. In order to map the RDs and the related orofacial manifestations, the primary data source was the platform Orphanet, from which information about rare diseases, medical terminologies, and "Human Phenotype Ontology" (HPO) identifiers was retrieved. Data retrieval and wrangling were conducted in Python using the Spyder integrated development environment (IDE) within the Anaconda distribution. The relational data frame was modeled using MySQL Workbench.Results In total, 258 oral manifestations were classified in 11 groups. From all rare diseases, 863 presented at least one orofacial manifestation. Bone/skeletal manifestations were the conditions mostly associated with rare diseases, followed by oral mucosal manifestations, dental manifestations, craniofacial anomalies, and neoplasic manifestation.Conclusion Within the limitations of this study, it was possible to map rare diseases presenting orofacial manifestations. Further development of the database is required to provide technical and scientific support to professionals.
SN - 1746-160X
ER -