{"Name":"Oromandibular-limb hypogenesis syndrome","DiseaseID__c":"GARD:0004116","id":4116,"encodedName":"oromandibular-limb-hypogenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oromandibular-limb hypogenesis syndrome","Xref_IDs__c":"C5679764; MEDGEN:1843329; MONDO:0017139; ORPHA:2749","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017139","Disease_Description__c":"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).","GARD_Name__c":"Oromandibular-limb hypogenesis syndrome","GARD_Synonym__c":"oroacral syndrome","Curated_Disease_Description_Source__c":"MONDO:0017139","Curated_Disease_Description__c":"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2749","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017139","ORPHANET_ID__c":"ORPHA:2749","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipogenesia oromandibular y de extremidades","Spanish_Description_Source__c":"ORPHA:2749","Spanish_Description__c":"El síndrome de hipogenesia oromandibular y de extremidades (OLHS) es un grupo de trastornos dismórficos que incluye: el síndrome de Charlie M, el síndrome de Hanhart y la anquilosis glosopalatina.Está caracterizado por la asociación de malformaciones asimétricas y graves de las extremidades (afecta principalmente a los segmentos distales) y anomalías de la cavidad oral y la mandíbula (hipoglosia, aglosia, micrognatia, anquilosis glosopalatina, fisura palatina y anomalías gingivales).","Spanish_Disease_Name__c":"síndrome de hipogenesia oromandibular y de extremidades","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":"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).","Curated_Disease_Description_Source__c":"MONDO:0017139","GARD_Synonym__c":"oroacral syndrome","Name":"Oromandibular-limb hypogenesis syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2749"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2749"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2749","Source__c":"C5679764; MONDO:0017139; ORPHA:2749","Xref__c":"ORPHA:2749"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679764","Source__c":"C5679764","Xref__c":"C5679764"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843329","Source__c":"C5679764","Xref__c":"MEDGEN:1843329"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017139","Source__c":"GARD:0004116","Xref__c":"MONDO:0017139"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"]},"synonyms":["oroacral syndrome"]}