{"Name":"Peripheral dysostosis","DiseaseID__c":"GARD:0002015","id":2015,"encodedName":"peripheral-dysostosis","IsDeleted":false,"Disease_Name_Full__c":"Peripheral dysostosis","Xref_IDs__c":"C4721502; MEDGEN:1648357; MONDO:0008227; OMIM:170700","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:1795","Disease_Description__c":"Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.","GARD_Name__c":"Peripheral dysostosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Peripheral dysostosis is a rare bone disorder that affects the development of bones. People with this condition have cone-shaped finger bones, and their fingers have an abnormal range of motion. People with peripheral dysostosis may also have short limbs, short fingers and toes, a flat face and nose, and a large skull.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1795","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008227","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":"Peripheral dysostosis is a rare bone disorder that affects the development of bones. People with this condition have cone-shaped finger bones, and their fingers have an abnormal range of motion. People with peripheral dysostosis may also have short limbs, short fingers and toes, a flat face and nose, and a large skull.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Peripheral dysostosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4721502","Source__c":"C4721502","Xref__c":"C4721502"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648357","Source__c":"C4721502","Xref__c":"MEDGEN:1648357"},{"URL__c":"https://www.omim.org/entry/170700","Source__c":"C4721502; MONDO:0008227","Xref__c":"OMIM:170700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008227","Source__c":"GARD:0002015","Xref__c":"MONDO:0008227"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:170700","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:170700","Feature__r":{"HPO_Description__c":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010230","HPO_Synonym__c":"Cone-shaped end part of finger bones; Cone-shaped epiphyses of hand; Cone-shaped epiphyses of the fingers; Coned epiphyses of hands; Conical phalangeal epiphyses","HPO_Name__c":"Cone-shaped epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:170700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}