{"Name":"Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly","DiseaseID__c":"GARD:0000711","id":711,"encodedName":"anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly","IsDeleted":false,"Disease_Name_Full__c":"Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly","Xref_IDs__c":"C1862842; C536379; MEDGEN:400143; MONDO:0007133; OMIM:106990","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1862841","Disease_Description__c":"Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010).A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).","GARD_Name__c":"Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly","GARD_Synonym__c":"kumar-levick syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1862841","Curated_Disease_Description__c":"This rare inherited disease affects the development of the fingers, toes, and the bones at their tips. It is described by changes in the nails (nail dystrophy) that can become completely absent on many fingers and toes over time. The ends of some fingers and toes, especially the fifth finger and the thumbs, may be shortened or missing because the small bones at the tips are underdeveloped or absent. The nails on the first three fingers may slowly become more deformed, with complete loss of nails on the last two fingers and on all of the toes. In some families, this disease also appears together with very large breast growth in girls during puberty, while boys in the same family show only the nail and bone changes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007133","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare inherited disease affects the development of the fingers, toes, and the bones at their tips. It is described by changes in the nails (nail dystrophy) that can become completely absent on many fingers and toes over time. The ends of some fingers and toes, especially the fifth finger and the thumbs, may be shortened or missing because the small bones at the tips are underdeveloped or absent. The nails on the first three fingers may slowly become more deformed, with complete loss of nails on the last two fingers and on all of the toes. In some families, this disease also appears together with very large breast growth in girls during puberty, while boys in the same family show only the nail and bone changes.","Curated_Disease_Description_Source__c":"MEDGEN:C1862841","GARD_Synonym__c":"kumar-levick syndrome","Name":"Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400143","Source__c":"C1862842","Xref__c":"MEDGEN:400143"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536379","Source__c":"MONDO:0007133","Xref__c":"C536379"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862842","Source__c":"C1862842","Xref__c":"C1862842"},{"URL__c":"https://www.omim.org/entry/106990","Source__c":"C1862842; MONDO:0007133","Xref__c":"OMIM:106990"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007133","Source__c":"GARD:0000711","Xref__c":"MONDO:0007133"}],"tags":{},"synonyms":["kumar-levick syndrome"]}