{"Name":"Florid cemento-osseous dysplasia","DiseaseID__c":"GARD:0010173","id":10173,"encodedName":"florid-cemento-osseous-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Florid cemento-osseous dysplasia","Xref_IDs__c":"715634002; C0555197; C537063; C8381; MEDGEN:107519; MONDO:0019368; ORPHA:83451","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019368","Disease_Description__c":"Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.","GARD_Name__c":"Florid cemento-osseous dysplasia","GARD_Synonym__c":"florid osseous dysplasia; focal cemento-osseous dysplasia","Curated_Disease_Description_Source__c":"GARD:0010173","Curated_Disease_Description__c":"Florid cemento-osseous dysplasia (FCOD) is a condition that occurs in the jaw bone, especially close to where the teeth are formed. People with FCOD develop lesions in the jaw, were spots of normal bone are replaced with a mix of connective tissue and abnormal bone. The lesions are often found in equal numbers and size on both sides of the jaw. People with FCOD rarely have symptoms and it is usually found with dental x-rays during a routine dental examination. The cause of FCOD is unknown, and it does not usually run in families. It mainly occurs in middle aged women of African American and Asian descent. The number, size, and shape of the lesions can be different from person to person. Occasionally the lesions expand or get infected and may cause discomfort, pain, or mild disfigurement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:83451","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019368","ORPHANET_ID__c":"ORPHA:83451","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia cemento-ósea florida","Spanish_Description_Source__c":"ORPHA:83451","Spanish_Description__c":"La displasia cemento-ósea florida (FCOD) es una lesión fibro-ósea en la mandíbula poco frecuente que predominantemente afecta a mujeres de edad media de descendencia africana. Generalmente es asintomática o puede manifestarse con dolor e inflamación gingival. Radiológicamente se caracteriza por múltiples lesiones óseas lobuladas densas, a menudo localizadas de manera simétrica en varias regiones de la mandíbula.","Spanish_Disease_Name__c":"displasia cemento-ósea florida","Spanish_GARD_Synonym__c":"displasia cemento-ósea focal; displasia florida ósea; displasia ósea florida","Category_Linearization__c":"ORPHA:98026","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Florid cemento-osseous dysplasia (FCOD) is a condition that occurs in the jaw bone, especially close to where the teeth are formed. People with FCOD develop lesions in the jaw, were spots of normal bone are replaced with a mix of connective tissue and abnormal bone. The lesions are often found in equal numbers and size on both sides of the jaw. People with FCOD rarely have symptoms and it is usually found with dental x-rays during a routine dental examination. The cause of FCOD is unknown, and it does not usually run in families. It mainly occurs in middle aged women of African American and Asian descent. The number, size, and shape of the lesions can be different from person to person. Occasionally the lesions expand or get infected and may cause discomfort, pain, or mild disfigurement.","Curated_Disease_Description_Source__c":"GARD:0010173","GARD_Synonym__c":"florid osseous dysplasia; focal cemento-osseous dysplasia","Name":"Florid cemento-osseous dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:83451"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8381","Source__c":"C0555197; MONDO:0019368","Xref__c":"C8381"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0555197","Source__c":"C0555197","Xref__c":"C0555197"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715634002","Source__c":"C0555197; MONDO:0019368","Xref__c":"715634002"},{"URL__c":"https://www.orpha.net/en/disease/detail/83451","Source__c":"C0555197; MONDO:0019368; ORPHA:83451","Xref__c":"ORPHA:83451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537063","Source__c":"MONDO:0019368","Xref__c":"C537063"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107519","Source__c":"C0555197","Xref__c":"MEDGEN:107519"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019368","Source__c":"GARD:0010173","Xref__c":"MONDO:0019368"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006308","HPO_Synonym__c":"Atrophy of alveolar margins; Atrophy of alveolar processes of jaw; Resorption of alveolar margins; Resorption of alveolar processes of jaw; Resorption of alveolar ridges; Shrinking of alveolar ridges; Shrinking of gum ridges","HPO_Name__c":"Atrophy of alveolar ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000700","HPO_Synonym__c":"Dark spot around tooth root on x-ray; Periapical lesion","HPO_Name__c":"Periapical bone loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the Maxilla (upper jaw bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000326","HPO_Synonym__c":"Abnormality of the maxilla; Abnormality of the upper jaw bone; Abnormality of the upper jaw bones","HPO_Name__c":"Abnormal maxilla morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or form of trabecular bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100671","HPO_Synonym__c":"Abnormal shape of spongy bone; Abnormality of bone trabeculation","HPO_Name__c":"Abnormal trabecular bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the composite material or the layered arrangement of the bony skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003330","HPO_Name__c":"Abnormal bone structure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000309","HPO_Synonym__c":"Abnormal morphology of the midface; Abnormality of the midface; Anomaly of the midface","HPO_Name__c":"Abnormal midface morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030793","HPO_Name__c":"Jaw swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an altered number of of teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006483","HPO_Synonym__c":"Abnormal complement of teeth; Abnormal number of teeth; Abnormal tooth count","HPO_Name__c":"Abnormal number of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the mandible, the bone of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000277","HPO_Synonym__c":"Abnormality of the lower jaw bone; Abnormality of the mandible","HPO_Name__c":"Abnormal mandible morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple impacted teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001571","HPO_Synonym__c":"Impacted teeth; Multiple impacted teeth","HPO_Name__c":"Multiple impacted teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the primary tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006481","HPO_Synonym__c":"Abnormality of baby teeth; Abnormality of deciduous teeth; Abnormality of milk teeth","HPO_Name__c":"Abnormality of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430028","HPO_Synonym__c":"Big maxilla; Big upper jaw; Hyperplasia of upper jaw; Increased size of maxilla; Increased size of upper jaw; Large maxilla; Large upper jaw; Maxillary excess; Maxillary hyperplasia; Maxillary macrognathia; Maxillary prominence; Prominent maxilla; Prominent upper jaw; Upper jaw bone excess; Upper jaw excess","HPO_Name__c":"Hyperplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple cystic changes in multiple areas or multiple bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012065","HPO_Synonym__c":"Multiple bony cystic lesions","HPO_Name__c":"Multiple bony cystic lesions","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment in the physical production of speech sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009088","HPO_Name__c":"Speech articulation difficulties","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis of the lower jaw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007626","HPO_Synonym__c":"Lower jaw bone infection; Osteomyelitis, especially of the mandible","HPO_Name__c":"Mandibular osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000155","HPO_Synonym__c":"Mouth ulcer; Oral mucosal ulceration","HPO_Name__c":"Oral ulcer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83451","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100717","HPO_Synonym__c":"Abnormality of the cementum","HPO_Name__c":"Abnormal cementum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Odontology"]},"synonyms":["florid osseous dysplasia"," focal cemento-osseous dysplasia"],"spanishId":13674,"spanishName":"displasia-cemento-osea-florida"}