{"Name":"Anonychia-onychodystrophy syndrome","DiseaseID__c":"GARD:0000710","id":710,"encodedName":"anonychia-onychodystrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Anonychia-onychodystrophy syndrome","Xref_IDs__c":"C1862840; C536378; MEDGEN:350767; MONDO:0019577; ORPHA:90390","USA_Estimate__c":"1,000","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":"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:90390","Disease_Description__c":null,"GARD_Name__c":"Anonychia-onychodystrophy syndrome","GARD_Synonym__c":"absent nails and dystrophic nails; anonychia/hyponychia and onychodystrophy","Curated_Disease_Description_Source__c":"ORPHA:79143","Curated_Disease_Description__c":"Anonychia-onychodystrophy syndrome is a type of isolated congenital anonychia. It is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:90390","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019577","ORPHANET_ID__c":"ORPHA:90390","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anoniquia-onicondistrofia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de anoniquia-onicondistrofia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Anonychia-onychodystrophy syndrome is a type of isolated congenital anonychia. It is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission.","Curated_Disease_Description_Source__c":"ORPHA:79143","GARD_Synonym__c":"absent nails and dystrophic nails; anonychia/hyponychia and onychodystrophy","Name":"Anonychia-onychodystrophy 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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536378","Source__c":"MONDO:0019577","Xref__c":"C536378"},{"URL__c":"https://www.orpha.net/en/disease/detail/90390","Source__c":"C1862840; MONDO:0019577; ORPHA:90390","Xref__c":"ORPHA:90390"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350767","Source__c":"C1862840","Xref__c":"MEDGEN:350767"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862840","Source__c":"C1862840","Xref__c":"C1862840"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019577","Source__c":"GARD:0000710","Xref__c":"MONDO:0019577"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["absent nails and dystrophic nails"," anonychia/hyponychia and onychodystrophy"]}