{"Name":"Syndactyly type 1","DiseaseID__c":"GARD:0005081","id":5081,"encodedName":"syndactyly-type-1","IsDeleted":false,"Disease_Name_Full__c":"Syndactyly type 1","Xref_IDs__c":"715723008; C1861380; DOID:0111816; MEDGEN:348343; MONDO:0008512; OMIM:185900; ORPHA:93402","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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":3,"Description_Source__c":"MONDO:0008512","Disease_Description__c":"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","GARD_Name__c":"Syndactyly type 1","GARD_Synonym__c":"chromosome 2q35 duplication syndrome; syndactyly, type 1, with or without craniosynostosis; syndactyly, type i; zygodactyly 2","Curated_Disease_Description_Source__c":"GARD:0005081","Curated_Disease_Description__c":"Syndactyly type 1 is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Syndactyly type 1 is the most common type of non-syndromic syndactyly. Individuals with Syndactyly type 1 have webbing of the third and fourth fingers and/or between the second and third toes. Other digits may be involved, as well as the underlying bones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:93402","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008512","ORPHANET_ID__c":"ORPHA:93402","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sindactilia tipo 1","Spanish_Description_Source__c":"ORPHA:93402","Spanish_Description__c":"Es una sindactilia no sindrómica poco frecuente caracterizada por membranas completas o parciales entre el tercer y cuarto dedos de la mano y/o el segundo y tercer dedos del pie. Ocasionalmente pueden haber otros dedos afectados. El fenotipo varía ampliamente dentro y entre familias, con afectación, en algunas ocasiones, de las manos o de los pies únicamente. Las membranas entre los dedos pueden estar asociadas con la fusión ósea de las falanges distales.","Spanish_Disease_Name__c":"sindactilia tipo 1","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":"Syndactyly type 1 is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Syndactyly type 1 is the most common type of non-syndromic syndactyly. Individuals with Syndactyly type 1 have webbing of the third and fourth fingers and/or between the second and third toes. Other digits may be involved, as well as the underlying bones.","Curated_Disease_Description_Source__c":"GARD:0005081","GARD_Synonym__c":"chromosome 2q35 duplication syndrome; syndactyly, type 1, with or without craniosynostosis; syndactyly, type i; zygodactyly 2","Name":"Syndactyly type 1","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93402"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93402"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93402"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861380"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861380","Source__c":"C1861380","Xref__c":"C1861380"},{"URL__c":"https://www.orpha.net/en/disease/detail/93402","Source__c":"C1861380; MONDO:0008512; ORPHA:93402","Xref__c":"ORPHA:93402"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348343","Source__c":"C1861380","Xref__c":"MEDGEN:348343"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111816","Source__c":"MONDO:0008512","Xref__c":"DOID:0111816"},{"URL__c":"https://www.omim.org/entry/185900","Source__c":"C1861380; MONDO:0008512; ORPHA:93402","Xref__c":"OMIM:185900"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715723008","Source__c":"C1861380; MONDO:0008512","Xref__c":"715723008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008512","Source__c":"GARD:0005081","Xref__c":"MONDO:0008512"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93402","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006097","HPO_Synonym__c":"Partial or complete syndactyly 3rd-4th fingers; Webbed 3rd-4th finger; Webbed 3rd-4th fingers","HPO_Name__c":"3-4 finger osseus syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["chromosome 2q35 duplication syndrome"," syndactyly, type 1, with or without craniosynostosis"," syndactyly, type i"," zygodactyly 2"]}