{"Name":"Exostoses-anetodermia-brachydactyly type E syndrome","DiseaseID__c":"GARD:0002202","id":2202,"encodedName":"exostoses-anetodermia-brachydactyly-type-e-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Exostoses-anetodermia-brachydactyly type E syndrome","Xref_IDs__c":"C1851428; C565034; MEDGEN:338695; MONDO:0007584; OMIM:133690; ORPHA:1962","USA_Estimate__c":"1,000","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":"1 to 8,000","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":1,"Description_Source__c":"MONDO:0007584","Disease_Description__c":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Exostoses-anetodermia-brachydactyly type E syndrome","GARD_Synonym__c":"exostoses with anetodermia and brachydactyly, type e","Curated_Disease_Description_Source__c":"ORPHA:1962","Curated_Disease_Description__c":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1962","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007584","ORPHANET_ID__c":"ORPHA:1962","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de exostosis-anetodermia-braquidactilia tipo e","Spanish_Description_Source__c":"ORPHA:1962","Spanish_Description__c":"Es una asociación descrita en una única familia que se caracteriza por la presencia variable de los siguientes rasgos: anetodermia (atrofia macular de la piel), exostosis múltiple y braquidactalia tipo E. No se han descrito más casos en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de exostosis-anetodermia-braquidactilia tipo e","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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":"An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E.","Curated_Disease_Description_Source__c":"ORPHA:1962","GARD_Synonym__c":"exostoses with anetodermia and brachydactyly, type e","Name":"Exostoses-anetodermia-brachydactyly type E syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1962"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/133690","Source__c":"C1851428; MONDO:0007584; ORPHA:1962","Xref__c":"OMIM:133690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338695","Source__c":"C1851428","Xref__c":"MEDGEN:338695"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851428","Source__c":"C1851428","Xref__c":"C1851428"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565034","Source__c":"MONDO:0007584","Xref__c":"C565034"},{"URL__c":"https://www.orpha.net/en/disease/detail/1962","Source__c":"C1851428; MONDO:0007584","Xref__c":"ORPHA:1962"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007584","Source__c":"GARD:0002202","Xref__c":"MONDO:0007584"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (atrophy) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004334","HPO_Synonym__c":"Atrophic skin; Skin atrophy; Skin degeneration","HPO_Name__c":"Dermal atrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002762","HPO_Name__c":"Multiple exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005863","HPO_Name__c":"Type E brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["exostoses with anetodermia and brachydactyly, type e"]}