{"Name":"Mandibular prognathia","DiseaseID__c":"GARD:0010319","id":10319,"encodedName":"mandibular-prognathia","IsDeleted":false,"Disease_Name_Full__c":"Mandibular prognathia","Xref_IDs__c":"C0399526; D008313; HP:0000303; MEDGEN:98316; MONDO:0008312; OMIM:176700; ORPHA:2964","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008312","Disease_Description__c":"Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).","GARD_Name__c":"Mandibular prognathia","GARD_Synonym__c":"anterior occlusion; anteroclusion; autosomal dominant prognathism; big lower jaw; big mandible; bulldog jaw; class iii incisal relationship; class iii malocclusion; enlarged mandible; enlargement of mandible; habsburg jaw; hapsburg jaw; hyperplasia of lower jaw; hypertrophy of lower jaw; hypertrophy of mandible; increased projection of lower jaw; increased projection of mandible; increased size of lower jaw; increased size of mandible; large lower jaw; large mandible; lower jaw excess; lower jaw hyperplasia; macromandible; malocclusion, angle class iii; mandible prognathism; mandibular excess; mandibular hyperplasia; mandibular macrognathia; mandibular prognathism; prognathia; prognathism; prominent chin; prominent jaw; prominent lower jaw; prominent mandible; protrusive chin; protrusive occlusion; relative mandibular prognathism; undershot jaw","Curated_Disease_Description_Source__c":"MONDO:0008312","Curated_Disease_Description__c":"Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2964","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008312","ORPHANET_ID__c":"ORPHA:2964","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Prognatismo autosómico dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"prognatismo autosómico dominante","Spanish_GARD_Synonym__c":null,"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":"Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).","Curated_Disease_Description_Source__c":"MONDO:0008312","GARD_Synonym__c":"anterior occlusion; anteroclusion; autosomal dominant prognathism; big lower jaw; big mandible; bulldog jaw; class iii incisal relationship; class iii malocclusion; enlarged mandible; enlargement of mandible; habsburg jaw; hapsburg jaw; hyperplasia of lower jaw; hypertrophy of lower jaw; hypertrophy of mandible; increased projection of lower jaw; increased projection of mandible; increased size of lower jaw; increased size of mandible; large lower jaw; large mandible; lower jaw excess; lower jaw hyperplasia; macromandible; malocclusion, angle class iii; mandible prognathism; mandibular excess; mandibular hyperplasia; mandibular macrognathia; mandibular prognathism; prognathia; prognathism; prominent chin; prominent jaw; prominent lower jaw; prominent mandible; protrusive chin; protrusive occlusion; relative mandibular prognathism; undershot jaw","Name":"Mandibular prognathia","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2964"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008313","Source__c":"C0399526; MONDO:0008312","Xref__c":"D008313"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0399526","Source__c":"C0399526","Xref__c":"C0399526"},{"URL__c":"https://www.orpha.net/en/disease/detail/2964","Source__c":"C0399526; MONDO:0008312","Xref__c":"ORPHA:2964"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98316","Source__c":"C0399526","Xref__c":"MEDGEN:98316"},{"URL__c":"https://www.omim.org/entry/176700","Source__c":"C0399526; MONDO:0008312; ORPHA:2964","Xref__c":"OMIM:176700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109504005","Source__c":"C0399526","Xref__c":"109504005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008312","Source__c":"GARD:0010319","Xref__c":"MONDO:0008312"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000303","Source__c":"C0399526","Xref__c":"HP:0000303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22810007","Source__c":"C0399526","Xref__c":"22810007"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visible space between the dental arches in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010807","HPO_Synonym__c":"Absence of overlap of upper and lower teeth; Open bite; Open bite between upper and lower teeth","HPO_Name__c":"Open bite","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2964","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["anterior occlusion"," anteroclusion"," autosomal dominant prognathism"," big lower jaw"," big mandible"," bulldog jaw"," class iii incisal relationship"," class iii malocclusion"," enlarged mandible"," enlargement of mandible"," habsburg jaw"," hapsburg jaw"," hyperplasia of lower jaw"," hypertrophy of lower jaw"," hypertrophy of mandible"," increased projection of lower jaw"," increased projection of mandible"," increased size of lower jaw"," increased size of mandible"," large lower jaw"," large mandible"," lower jaw excess"," lower jaw hyperplasia"," macromandible"," malocclusion, angle class iii"," mandible prognathism"," mandibular excess"," mandibular hyperplasia"," mandibular macrognathia"," mandibular prognathism"," prognathia"," prognathism"," prominent chin"," prominent jaw"," prominent lower jaw"," prominent mandible"," protrusive chin"," protrusive occlusion"," relative mandibular prognathism"," undershot jaw"]}