{"Name":"Orofacial-digital syndrome III","DiseaseID__c":"GARD:0010518","id":10518,"encodedName":"orofacial-digital-syndrome-iii","IsDeleted":false,"Disease_Name_Full__c":"Orofacial-digital syndrome III","Xref_IDs__c":"239030004; C0406726; C557817; DOID:0060373; MEDGEN:96069; MONDO:0009793; OMIM:258850","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009793","Disease_Description__c":"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.","GARD_Name__c":"Orofacial-digital syndrome III","GARD_Synonym__c":"ofd iii - orofacial-digital syndrome iii; ofd3; ofds iii; oral-facial-digital syndrome type 3; oral-facial-digital syndrome, type iii; orofaciodigital syndrome iii; orofaciodigital syndrome type 3; orofaciodigital syndrome type iii; sugarman syndrome","Curated_Disease_Description_Source__c":"MONDO:0009793","Curated_Disease_Description__c":"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2752","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009793","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.","Curated_Disease_Description_Source__c":"MONDO:0009793","GARD_Synonym__c":"ofd iii - orofacial-digital syndrome iii; ofd3; ofds iii; oral-facial-digital syndrome type 3; oral-facial-digital syndrome, type iii; orofaciodigital syndrome iii; orofaciodigital syndrome type 3; orofaciodigital syndrome type iii; sugarman syndrome","Name":"Orofacial-digital syndrome III","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.org"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010518","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C557817","Source__c":"MONDO:0009793","Xref__c":"C557817"},{"URL__c":"https://www.omim.org/entry/258850","Source__c":"C0406726; MONDO:0009793","Xref__c":"OMIM:258850"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406726","Source__c":"C0406726","Xref__c":"C0406726"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060373","Source__c":"MONDO:0009793","Xref__c":"DOID:0060373"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96069","Source__c":"C0406726","Xref__c":"MEDGEN:96069"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239030004","Source__c":"C0406726; MONDO:0009793","Xref__c":"239030004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009793","Source__c":"GARD:0010518","Xref__c":"MONDO:0009793"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Decreased inferosuperior length of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000879","HPO_Synonym__c":"Short sternum","HPO_Name__c":"Short sternum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"The presence of one or more teeth additional to the normal number.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011069","HPO_Synonym__c":"Extra teeth; Hyperdontia; Increased number of teeth; Increased tooth count; Supernumerary teeth; Supplemental dentition; Supplemental teeth; Tooth, supernumerary","HPO_Name__c":"Supernumerary tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001795","HPO_Synonym__c":"Increased nail curvature; Nail overcurvature","HPO_Name__c":"Hyperconvex nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000199","HPO_Synonym__c":"Lingual nodules","HPO_Name__c":"Tongue nodules","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001830","HPO_Synonym__c":"Extra toe attached near the little toe; Polydactyly affecting the 5th toe; Postaxial polydactyly of feet; Postaxial polydactyly of foot; Posterior polydactyly of foot","HPO_Name__c":"Postaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Tongue with a median apical indentation or fork.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010297","HPO_Synonym__c":"Bifurcated tongue; Bilobed tongue; Cleft tongue; Forked tongue; Split tongue","HPO_Name__c":"Bifid tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:258850","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["ofd iii - orofacial-digital syndrome iii"," ofd3"," ofds iii"," oral-facial-digital syndrome type 3"," oral-facial-digital syndrome, type iii"," orofaciodigital syndrome iii"," orofaciodigital syndrome type 3"," orofaciodigital syndrome type iii"," sugarman syndrome"]}