{"Name":"Otodental syndrome","DiseaseID__c":"GARD:0004168","id":4168,"encodedName":"otodental-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Otodental syndrome","Xref_IDs__c":"1237343009; 707310009; C1833693; C563482; MEDGEN:318937; MONDO:0008161; OMIM:166750; ORPHA:2791","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008161","Disease_Description__c":"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.","GARD_Name__c":"Otodental syndrome","GARD_Synonym__c":"chromosome 11q13 deletion syndrome; globodontia; otodental dysplasia; otodental dysplasia chromosome deletion syndrome","Curated_Disease_Description_Source__c":"MONDO:0008161","Curated_Disease_Description__c":"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2791","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008161","ORPHANET_ID__c":"ORPHA:2791","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome otodental","Spanish_Description_Source__c":"ORPHA:2791","Spanish_Description__c":"El síndrome otodental es una enfermedad hereditaria muy rara caracterizada por la presencia de caninos y molares extremadamente grandes (globodoncia) asociados a una pérdida de audición neurosensorial.","Spanish_Disease_Name__c":"síndrome otodental","Spanish_GARD_Synonym__c":"displasia otodental; globodontia","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":"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0008161","GARD_Synonym__c":"chromosome 11q13 deletion syndrome; globodontia; otodental dysplasia; otodental dysplasia chromosome deletion syndrome","Name":"Otodental syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2791"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833693"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004168","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833693","Source__c":"C1833693","Xref__c":"C1833693"},{"URL__c":"https://www.orpha.net/en/disease/detail/2791","Source__c":"C1833693; MONDO:0008161; ORPHA:2791","Xref__c":"ORPHA:2791"},{"URL__c":"https://www.omim.org/entry/166750","Source__c":"C1833693; MONDO:0008161; ORPHA:2791","Xref__c":"OMIM:166750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318937","Source__c":"C1833693","Xref__c":"MEDGEN:318937"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707310009","Source__c":"MONDO:0008161","Xref__c":"707310009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008161","Source__c":"GARD:0004168","Xref__c":"MONDO:0008161"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237343009","Source__c":"C1833693","Xref__c":"1237343009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563482","Source__c":"MONDO:0008161","Xref__c":"C563482"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100719","HPO_Name__c":"Lens coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects primarily the higher frequencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001757","HPO_Synonym__c":"High frequency sensorineural hearing impairment; High-tone sensorineural deafness; High-tone sensorineural hearing impairment","HPO_Name__c":"High-frequency sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000679","HPO_Synonym__c":"Taurodont; Taurodontism","HPO_Name__c":"Taurodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003771","HPO_Synonym__c":"Pulp calcifications; Pulp denticles; Pulp stones; Pulpoliths","HPO_Name__c":"Pulp calcification","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","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:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Otitis media characterized by thick or sticky fluid behind the tympanic membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031353","HPO_Synonym__c":"Fluid behind eardrum; Middle ear effusions; OME","HPO_Name__c":"Otitis media with effusion","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of morphology of molar tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011070","HPO_Synonym__c":"Abnormal shape of molar tooth; Abnormality of molar morphology","HPO_Name__c":"Abnormal molar morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A notch or cleft of the retina or choroid, located vertically below the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000480","HPO_Synonym__c":"Hole in the back of the eye","HPO_Name__c":"Retinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A progressive form of sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000408","HPO_Synonym__c":"Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive","HPO_Name__c":"Progressive sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Agenesis of premolar tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011051","HPO_Synonym__c":"Agenesis of bicuspid; Failure of development of bicuspid; Failure of development of premolar","HPO_Name__c":"Agenesis of premolar","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an odontoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011068","HPO_Name__c":"Odontoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental pulp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006479","HPO_Synonym__c":"Abnormality of the dental pulp; Abnormality of tooth pulp","HPO_Name__c":"Abnormal dental pulp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of canine tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011078","HPO_Synonym__c":"Abnormality of canine; Abnormality of eye tooth","HPO_Name__c":"Abnormality of canine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the periodontium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000704","HPO_Synonym__c":"Pyorrhea","HPO_Name__c":"Periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","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:2791","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:2791","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Odontology","Pediatrics"]},"synonyms":["chromosome 11q13 deletion syndrome"," globodontia"," otodental dysplasia"," otodental dysplasia chromosome deletion syndrome"]}