{"Name":"Oculodental syndrome, Rutherfurd type","DiseaseID__c":"GARD:0000212","id":212,"encodedName":"oculodental-syndrome-rutherfurd-type","IsDeleted":false,"Disease_Name_Full__c":"Oculodental syndrome, Rutherfurd type","Xref_IDs__c":"699754008; C0796140; C537732; MEDGEN:163222; MONDO:0008396; OMIM:180900; ORPHA:2709","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008396","Disease_Description__c":"Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.","GARD_Name__c":"Oculodental syndrome, Rutherfurd type","GARD_Synonym__c":"corneal dystrophy with gum hypertrophy; gingival hypertrophy corneal dystrophy; gingival hypertrophy with corneal dystrophy; gingival hypertrophy-corneal dystrophy; oculodental syndrome; rutherfurd syndrome","Curated_Disease_Description_Source__c":"MONDO:0008396","Curated_Disease_Description__c":"Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2709","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008396","ORPHANET_ID__c":"ORPHA:2709","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome óculo-dental tipo rutherfurd","Spanish_Description_Source__c":"ORPHA:2709","Spanish_Description__c":"Es un trastorno genético poco frecuente caracterizado principalmente por la tríada clásica de fibromatosis gingival, ausencia de erupción dentaria y distrofia corneal (vascularización corneal bilateral y opacidad). También se han descrito dientes de forma anómala. El síndrome se transmite siguiendo un patrón de herencia autosómico dominante.","Spanish_Disease_Name__c":"síndrome óculo-dental tipo rutherfurd","Spanish_GARD_Synonym__c":"hipertrofia gingival-distrofia corneal; síndrome de rutherfurd","Category_Linearization__c":"ORPHA:93890","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":"Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.","Curated_Disease_Description_Source__c":"MONDO:0008396","GARD_Synonym__c":"corneal dystrophy with gum hypertrophy; gingival hypertrophy corneal dystrophy; gingival hypertrophy with corneal dystrophy; gingival hypertrophy-corneal dystrophy; oculodental syndrome; rutherfurd syndrome","Name":"Oculodental syndrome, Rutherfurd type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2709"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2709"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537732","Source__c":"MONDO:0008396","Xref__c":"C537732"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163222","Source__c":"C0796140","Xref__c":"MEDGEN:163222"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699754008","Source__c":"C0796140; MONDO:0008396","Xref__c":"699754008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796140","Source__c":"C0796140","Xref__c":"C0796140"},{"URL__c":"https://www.orpha.net/en/disease/detail/2709","Source__c":"C0796140; MONDO:0008396; ORPHA:2709","Xref__c":"ORPHA:2709"},{"URL__c":"https://www.omim.org/entry/180900","Source__c":"C0796140; MONDO:0008396; ORPHA:2709","Xref__c":"OMIM:180900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008396","Source__c":"GARD:0000212","Xref__c":"MONDO:0008396"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005216","HPO_Synonym__c":"Chewing difficulties; Chewing difficulty; Difficulty chewing","HPO_Name__c":"Impaired mastication","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000169","HPO_Synonym__c":"Gingival fibroma; Gingival fibrous nodules","HPO_Name__c":"Gingival fibromatosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2709","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Odontology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal dystrophy with gum hypertrophy"," gingival hypertrophy corneal dystrophy"," gingival hypertrophy with corneal dystrophy"," gingival hypertrophy-corneal dystrophy"," oculodental syndrome"," rutherfurd syndrome"]}