{"Name":"Isolated congenital breast hypoplasia/aplasia","DiseaseID__c":"GARD:0009489","id":9489,"encodedName":"isolated-congenital-breast-hypoplasiaaplasia","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital breast hypoplasia/aplasia","Xref_IDs__c":"C0432357; C118459; MEDGEN:98489; MONDO:0015855; OMIMPS:113700; ORPHA:180188","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:180188","Disease_Description__c":"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","GARD_Name__c":"Isolated congenital breast hypoplasia/aplasia","GARD_Synonym__c":"amazia; aplasia or hypoplasia of breasts and/or nipples; breasts and/or nipples, aplasia or hypoplasia of; congenital absence of breast with absent nipple; isolated congenital amastia","Curated_Disease_Description_Source__c":"ORPHA:180188","Curated_Disease_Description__c":"A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:180188","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015855","ORPHANET_ID__c":"ORPHA:180188","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia/hipoplasia mamaria congénita aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aplasia/hipoplasia mamaria congénita aislada","Spanish_GARD_Synonym__c":"amastia congénita aislada","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 breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.","Curated_Disease_Description_Source__c":"ORPHA:180188","GARD_Synonym__c":"amazia; aplasia or hypoplasia of breasts and/or nipples; breasts and/or nipples, aplasia or hypoplasia of; congenital absence of breast with absent nipple; isolated congenital amastia","Name":"Isolated congenital breast hypoplasia/aplasia","estimateUsa":""}],"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009489","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432357","Source__c":"C0432357","Xref__c":"C0432357"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS113700","Source__c":"MONDO:0015855","Xref__c":"OMIMPS:113700"},{"URL__c":"https://www.orpha.net/en/disease/detail/180188","Source__c":"C0432357; MONDO:0015855; ORPHA:180188","Xref__c":"ORPHA:180188"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98489","Source__c":"C0432357","Xref__c":"MEDGEN:98489"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118459","Source__c":"C0432357","Xref__c":"C118459"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015855","Source__c":"GARD:0009489","Xref__c":"MONDO:0015855"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=271020004","Source__c":"C0432357","Xref__c":"271020004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTPRF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Urogenital Disorders"],"Specialist":["Genetics","Obstetrics / Gynecology"]},"synonyms":["amazia"," aplasia or hypoplasia of breasts and/or nipples"," breasts and/or nipples, aplasia or hypoplasia of"," congenital absence of breast with absent nipple"," isolated congenital amastia"]}