{"Name":"Plantar fibromatosis","DiseaseID__c":"GARD:0006873","id":6873,"encodedName":"plantar-fibromatosis","IsDeleted":false,"Disease_Name_Full__c":"Plantar fibromatosis","Xref_IDs__c":"13370002; C0158360; C4680; C537000; DOID:8936; MEDGEN:56385; MONDO:0004684; ORPHA:199251","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0004684","Disease_Description__c":"A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.","GARD_Name__c":"Plantar fibromatosis","GARD_Synonym__c":"dupuytren disease of foot; dupuytren's contracture of foot; ledderhose disease; ledderhose's disease; lederhose disease; plantar fascial fibromatosis; plantar part of pes superficial fibromatosis; superficial fibromatosis of plantar part of pes","Curated_Disease_Description_Source__c":"GARD:0006873","Curated_Disease_Description__c":"Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are often painless at first, but may cause pain when walking as they grow. People with Ledderhose disease may also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:199251","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0004684","ORPHANET_ID__c":"ORPHA:199251","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de ledderhose","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de ledderhose","Spanish_GARD_Synonym__c":"fibromatosis plantar","Category_Linearization__c":"ORPHA:89826","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":"Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are often painless at first, but may cause pain when walking as they grow. People with Ledderhose disease may also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases.","Curated_Disease_Description_Source__c":"GARD:0006873","GARD_Synonym__c":"dupuytren disease of foot; dupuytren's contracture of foot; ledderhose disease; ledderhose's disease; lederhose disease; plantar fascial fibromatosis; plantar part of pes superficial fibromatosis; superficial fibromatosis of plantar part of pes","Name":"Plantar fibromatosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"International Dupuytren Society","Website__c":"https://www.dupuytren-online.info/"},{"Account_Name__c":"Dupuytren Research Group","Website__c":"https://dupuytrens.org"},{"Account_Name__c":"British Dupuytren's Society","Website__c":"https://dupuytrens-society.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:199251"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56385","Source__c":"C0158360","Xref__c":"MEDGEN:56385"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4680","Source__c":"C0158360; MONDO:0004684","Xref__c":"C4680"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8936","Source__c":"MONDO:0004684","Xref__c":"DOID:8936"},{"URL__c":"https://www.orpha.net/en/disease/detail/199251","Source__c":"C0158360; MONDO:0004684; ORPHA:199251","Xref__c":"ORPHA:199251"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537000","Source__c":"MONDO:0004684","Xref__c":"C537000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158360","Source__c":"C0158360","Xref__c":"C0158360"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=13370002","Source__c":"C0158360; MONDO:0004684","Xref__c":"13370002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000071380","Source__c":"C0158360","Xref__c":"D000071380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004684","Source__c":"GARD:0006873","Xref__c":"MONDO:0004684"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:199251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199251","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199251","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199251","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100679","HPO_Name__c":"Lack of skin elasticity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:199251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology"],"Disease Category":["Cancer","Dermatology"],"Account":["Dermatology"]},"synonyms":["dupuytren disease of foot"," dupuytren's contracture of foot"," ledderhose disease"," ledderhose's disease"," lederhose disease"," plantar fascial fibromatosis"," plantar part of pes superficial fibromatosis"," superficial fibromatosis of plantar part of pes"],"spanishId":13359,"spanishName":"enfermedad-de-ledderhose"}