{"Name":"Melorheostosis with osteopoikilosis","DiseaseID__c":"GARD:0003690","id":3690,"encodedName":"melorheostosis-with-osteopoikilosis","IsDeleted":false,"Disease_Name_Full__c":"Melorheostosis with osteopoikilosis","Xref_IDs__c":"1197053003; C3149695; C563593; MEDGEN:461045; MONDO:0015995; ORPHA:1879","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015995","Disease_Description__c":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.","GARD_Name__c":"Melorheostosis with osteopoikilosis","GARD_Synonym__c":"mixed sclerosing bone dystrophy; msbd (mixed sclerosing bone dystrophy) syndrome; msbd syndrome","Curated_Disease_Description_Source__c":"MONDO:0015995","Curated_Disease_Description__c":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1879","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015995","ORPHANET_ID__c":"ORPHA:1879","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Melorreostosis con osteopoiquilia","Spanish_Description_Source__c":"ORPHA:1879","Spanish_Description__c":"La melorreostosis con osteopoiquilia es una displasia ósea esclerosante rara, que combina los rasgos clínicos y radiológicos de la melorreostosis y la osteopoiquilia (consulte estos términos). Se ha descrito en algunas familias con osteopoiquilia y se caracteriza por una presentación variable de dolor y deformidades de las extremidades.","Spanish_Disease_Name__c":"melorreostosis con osteopoiquilia","Spanish_GARD_Synonym__c":"distrofia ósea esclerosante mixta; síndrome msbd","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":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.","Curated_Disease_Description_Source__c":"MONDO:0015995","GARD_Synonym__c":"mixed sclerosing bone dystrophy; msbd (mixed sclerosing bone dystrophy) syndrome; msbd syndrome","Name":"Melorheostosis with osteopoikilosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Melorheostosis Association","Website__c":"http://www.melorheostosis.com/"}],"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":"All ages","Provided_By__c":"ORPHA:1879"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003690","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563593","Source__c":"MONDO:0015995","Xref__c":"C563593"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3149695","Source__c":"C3149695","Xref__c":"C3149695"},{"URL__c":"https://www.orpha.net/en/disease/detail/1879","Source__c":"C3149695; MONDO:0015995; ORPHA:1879","Xref__c":"ORPHA:1879"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461045","Source__c":"C3149695","Xref__c":"MEDGEN:461045"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197053003","Source__c":"C3149695","Xref__c":"1197053003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015995","Source__c":"GARD:0003690","Xref__c":"MONDO:0015995"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LEMD3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lemd3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A complete duplication affecting one or more of the distal phalanges of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010001","HPO_Synonym__c":"Complete duplication of the outermost bones of the hand","HPO_Name__c":"Complete duplication of the distal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003103","HPO_Synonym__c":"Abnormal compact bone morphology; Abnormality of cortical bone","HPO_Name__c":"Abnormal cortical bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1879","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010739","HPO_Name__c":"Osteopoikilosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mixed sclerosing bone dystrophy"," msbd (mixed sclerosing bone dystrophy) syndrome"," msbd syndrome"]}