{"Name":"Patella aplasia/hypoplasia","DiseaseID__c":"GARD:0008709","id":8709,"encodedName":"patella-aplasiahypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Patella aplasia/hypoplasia","Xref_IDs__c":"C1868577; C535568; MEDGEN:358246; MONDO:0008205; OMIM:168860; ORPHA:86789","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008205","Disease_Description__c":"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.","GARD_Name__c":"Patella aplasia/hypoplasia","GARD_Synonym__c":"absent or hypoplastic patellae; absent/hypoplastic patella; absent/small kneecap; absent/underdeveloped kneecap; aplasia/hypoplasia of the patella; aplastic or hypoplastic patellae; familial absence of the patella; familial aplasia of the patella (subtype); hypoplastic or absent patella; patella aplasia or hypoplasia; patella aplasia-hypoplasia; patellar aplasia/hypoplasia; ptlah; small to absent patellae","Curated_Disease_Description_Source__c":"MONDO:0008205","Curated_Disease_Description__c":"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.","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:86789","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008205","ORPHANET_ID__c":"ORPHA:86789","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia/hipoplasia aislada de rótula","Spanish_Description_Source__c":"ORPHA:86789","Spanish_Description__c":"La aplasia/hipoplasia de rótula aislada es una enfermedad genética extremadamente poco frecuente que se caracteriza por la ausencia congénita o por la reducción marcada del hueso rotular. Tan solo ha sido descrita en unas pocas familias hasta la fecha.","Spanish_Disease_Name__c":"aplasia/hipoplasia aislada de rótula","Spanish_GARD_Synonym__c":"ptlah","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":"Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.","Curated_Disease_Description_Source__c":"MONDO:0008205","GARD_Synonym__c":"absent or hypoplastic patellae; absent/hypoplastic patella; absent/small kneecap; absent/underdeveloped kneecap; aplasia/hypoplasia of the patella; aplastic or hypoplastic patellae; familial absence of the patella; familial aplasia of the patella (subtype); hypoplastic or absent patella; patella aplasia or hypoplasia; patella aplasia-hypoplasia; patellar aplasia/hypoplasia; ptlah; small to absent patellae","Name":"Patella aplasia/hypoplasia","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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:86789"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86789"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/86789","Source__c":"C1868577; MONDO:0008205; ORPHA:86789","Xref__c":"ORPHA:86789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358246","Source__c":"C1868577","Xref__c":"MEDGEN:358246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535568","Source__c":"MONDO:0008205","Xref__c":"C535568"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868577","Source__c":"C1868577","Xref__c":"C1868577"},{"URL__c":"https://www.omim.org/entry/168860","Source__c":"C1868577; MONDO:0008205; ORPHA:86789","Xref__c":"OMIM:168860"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008205","Source__c":"GARD:0008709","Xref__c":"MONDO:0008205"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006498","Source__c":"C1868577","Xref__c":"HP:0006498"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:168860","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168860","Feature__r":{"HPO_Description__c":"Underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003065","HPO_Synonym__c":"Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap","HPO_Name__c":"Patellar hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:168860","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["absent or hypoplastic patellae"," absent/hypoplastic patella"," absent/small kneecap"," absent/underdeveloped kneecap"," aplasia/hypoplasia of the patella"," aplastic or hypoplastic patellae"," familial absence of the patella"," familial aplasia of the patella (subtype)"," hypoplastic or absent patella"," patella aplasia or hypoplasia"," patella aplasia-hypoplasia"," patellar aplasia/hypoplasia"," ptlah"," small to absent patellae"]}