{"Name":"Steatocystoma multiplex-natal teeth syndrome","DiseaseID__c":"GARD:0005004","id":5004,"encodedName":"steatocystoma-multiplex-natal-teeth-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Steatocystoma multiplex-natal teeth syndrome","Xref_IDs__c":"C1866650; C537487; MEDGEN:356586; MONDO:0008486; OMIM:184510; ORPHA:3184","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"MONDO:0008486","Disease_Description__c":"A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.","GARD_Name__c":"Steatocystoma multiplex-natal teeth syndrome","GARD_Synonym__c":"steatocystoma multiplex with natal teeth","Curated_Disease_Description_Source__c":"MONDO:0008486","Curated_Disease_Description__c":"A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3184","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008486","ORPHANET_ID__c":"ORPHA:3184","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de esteatocistoma múltiple-dientes neonatales","Spanish_Description_Source__c":"ORPHA:3184","Spanish_Description__c":"Es un síndrome caracterizado por esteatocistomas múltiples generalizados y dientes neonatales.","Spanish_Disease_Name__c":"síndrome de esteatocistoma múltiple-dientes neonatales","Spanish_GARD_Synonym__c":null,"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 malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.","Curated_Disease_Description_Source__c":"MONDO:0008486","GARD_Synonym__c":"steatocystoma multiplex with natal teeth","Name":"Steatocystoma multiplex-natal teeth 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":"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"},{"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":"Odontology","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:3184"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3184"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/184510","Source__c":"C1866650; MONDO:0008486; ORPHA:3184","Xref__c":"OMIM:184510"},{"URL__c":"https://www.orpha.net/en/disease/detail/3184","Source__c":"C1866650; MONDO:0008486","Xref__c":"ORPHA:3184"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356586","Source__c":"C1866650","Xref__c":"MEDGEN:356586"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866650","Source__c":"C1866650","Xref__c":"C1866650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537487","Source__c":"MONDO:0008486","Xref__c":"C537487"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008486","Source__c":"GARD:0005004","Xref__c":"MONDO:0008486"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:184510","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184510","Feature__r":{"HPO_Description__c":"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012035","HPO_Name__c":"Steatocystoma multiplex","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184510","Feature__r":{"HPO_Description__c":"A tooth present at birth or erupting within the first month of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000695","HPO_Synonym__c":"Born with teeth; Natal teeth; Neonatal teeth; Teeth present at birth","HPO_Name__c":"Natal tooth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["steatocystoma multiplex with natal teeth"]}