{"Name":"Orofaciodigital syndrome","DiseaseID__c":"GARD:0010692","id":10692,"encodedName":"orofaciodigital-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Orofaciodigital syndrome","Xref_IDs__c":"52868006; C0029294; D009958; DOID:4501; MEDGEN:14518; MONDO:0015375; OMIMPS:311200; ORPHA:140997","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015375","Disease_Description__c":"Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.","GARD_Name__c":"Orofaciodigital syndrome","GARD_Synonym__c":"ofd; oral-facial-digital syndrome; orodigitofacial dysostosis; orofacial-digital syndrome","Curated_Disease_Description_Source__c":"GARD:0010692","Curated_Disease_Description__c":"Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. For most of the types the exact cause of the condition is unknown. These types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:140997","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015375","ORPHANET_ID__c":"ORPHA:140997","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome orofaciodigital","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome orofaciodigital","Spanish_GARD_Synonym__c":"ofd","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":"Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. When changes happen to many different parts of the body, this is called a syndrome. The literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. For most of the types the exact cause of the condition is unknown. These types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits.","Curated_Disease_Description_Source__c":"GARD:0010692","GARD_Synonym__c":"ofd; oral-facial-digital syndrome; orodigitofacial dysostosis; orofacial-digital syndrome","Name":"Orofaciodigital syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0029294"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS311200","Source__c":"MONDO:0015375","Xref__c":"OMIMPS:311200"},{"URL__c":"https://www.orpha.net/en/disease/detail/140997","Source__c":"C0029294; MONDO:0015375; ORPHA:140997","Xref__c":"ORPHA:140997"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=14518","Source__c":"C0029294","Xref__c":"MEDGEN:14518"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009958","Source__c":"C0029294; MONDO:0015375","Xref__c":"D009958"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0029294","Source__c":"C0029294","Xref__c":"C0029294"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4501","Source__c":"MONDO:0015375","Xref__c":"DOID:4501"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52868006","Source__c":"C0029294; MONDO:0015375","Xref__c":"52868006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015375","Source__c":"GARD:0010692","Xref__c":"MONDO:0015375"},{"URL__c":"https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome","Source__c":"GARD:0010692","Xref__c":"https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology"],"Account":["Craniofacial Anomalies","Congenital limb malformation"]},"synonyms":["ofd"," oral-facial-digital syndrome"," orodigitofacial dysostosis"," orofacial-digital syndrome"]}