{"Name":"Gollop-Wolfgang complex","DiseaseID__c":"GARD:0002285","id":2285,"encodedName":"gollop-wolfgang-complex","IsDeleted":false,"Disease_Name_Full__c":"Gollop-Wolfgang complex","Xref_IDs__c":"716006003; C1856789; C537917; DOID:0061175; MEDGEN:341622; MONDO:0009222; OMIM:228250; ORPHA:1986","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":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":2,"Description_Source__c":"MONDO:0009222","Disease_Description__c":"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.","GARD_Name__c":"Gollop-Wolfgang complex","GARD_Synonym__c":"bifid femur co-occurrent with monodactylous ectrodactyly; bifid femur with monodactylous ectrodactyly; bifid femur-monodactylous ectrodactyly syndrome; gollop wolfgang complex; gwc","Curated_Disease_Description_Source__c":"MONDO:0009222","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1986","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009222","ORPHANET_ID__c":"ORPHA:1986","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Complejo de gollop-wolfgang","Spanish_Description_Source__c":"ORPHA:1986","Spanish_Description__c":"Es una malformación congénita de las extremidades poco frecuente caracterizada por fémur bífido, tibia y cúbito ausente o hipoplásico con acortamiento de la extremidad, oligodactilia y ectrodactilia.","Spanish_Disease_Name__c":"complejo de gollop-wolfgang","Spanish_GARD_Synonym__c":"femur bífido-ectrodactilia monodactilia","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":"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.","Curated_Disease_Description_Source__c":"MONDO:0009222","GARD_Synonym__c":"bifid femur co-occurrent with monodactylous ectrodactyly; bifid femur with monodactylous ectrodactyly; bifid femur-monodactylous ectrodactyly syndrome; gollop wolfgang complex; gwc","Name":"Gollop-Wolfgang complex","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":"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:1986"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1986"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002285","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/228250","Source__c":"C1856789; MONDO:0009222; ORPHA:1986","Xref__c":"OMIM:228250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537917","Source__c":"MONDO:0009222","Xref__c":"C537917"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716006003","Source__c":"C1856789; MONDO:0009222","Xref__c":"716006003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341622","Source__c":"C1856789","Xref__c":"MEDGEN:341622"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856789","Source__c":"C1856789","Xref__c":"C1856789"},{"URL__c":"https://www.orpha.net/en/disease/detail/1986","Source__c":"C1856789; MONDO:0009222; ORPHA:1986","Xref__c":"ORPHA:1986"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009222","Source__c":"GARD:0002285","Xref__c":"MONDO:0009222"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061175","Source__c":"MONDO:0009222","Xref__c":"DOID:0061175"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1986","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006495","HPO_Synonym__c":"Absence/underdevelopment of inner forearm bone; Absent-hypoplastic ulnae; Absent/small ulna; Hypoplasia or unilateral/bilateral absence of ulna; Ulnar hypoplasia/aplasia","HPO_Name__c":"Aplasia/Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1986","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005772","HPO_Synonym__c":"Absent/hypoplastic tibia; Absent/small shankbone; Absent/small shinbone; Absent/underdeveloped shankbone; Absent/underdeveloped shinbone; Aplastic/hypoplastic tibia","HPO_Name__c":"Aplasia/Hypoplasia of the tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1986","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010443","HPO_Synonym__c":"Notched thighbone; Split thighbone","HPO_Name__c":"Bifid femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1986","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004058","HPO_Name__c":"Hand monodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1986","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","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":["bifid femur co-occurrent with monodactylous ectrodactyly"," bifid femur with monodactylous ectrodactyly"," bifid femur-monodactylous ectrodactyly syndrome"," gollop wolfgang complex"," gwc"]}