{"Name":"Anonychia","DiseaseID__c":"GARD:0010048","id":10048,"encodedName":"anonychia","IsDeleted":false,"Disease_Name_Full__c":"Anonychia","Xref_IDs__c":"23610003; C0265998; HP:0001798; MEDGEN:120563; MONDO:0019211; ORPHA:79143","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019211","Disease_Description__c":"Isolated congenital anonychia 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. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","GARD_Name__c":"Anonychia","GARD_Synonym__c":"absent nails; ann - anonychia; aplastic nails; congenital absent nails; isolated anonychia; isolated congenital anonychia","Curated_Disease_Description_Source__c":"ORPHA:79143","Curated_Disease_Description__c":"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described with male-to-male transmission in families, suggesting autosomal dominant transmission. Anonychia is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","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:79143","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019211","ORPHANET_ID__c":"ORPHA:79143","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anoniquia congénita aislada","Spanish_Description_Source__c":"ORPHA:79143","Spanish_Description__c":"Es un síndrome caracterizado por anomalías ungueales que van desde la onicodistrofia (uñas distróficas) hasta la anoniquia (ausencia de las uñas). La onicodistrofia-anoniquia se ha descrito en al menos cuatro generaciones de una familia con transmisión entre varones, lo que sugiere una herencia autosómica dominante. La anoniquia se ha descrito en menos de 20 casos; es probable que se transmita como un rasgo autosómico recesivo. La anoniquia total congénita, en la que el individuo carece de todas las uñas de las manos y de los pies, podría seguir un patrón de herencia autosómica dominante.","Spanish_Disease_Name__c":"anoniquia congénita aislada","Spanish_GARD_Synonym__c":"anoniquia aislada","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":"Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described with male-to-male transmission in families, suggesting autosomal dominant transmission. Anonychia is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.","Curated_Disease_Description_Source__c":"ORPHA:79143","GARD_Synonym__c":"absent nails; ann - anonychia; aplastic nails; congenital absent nails; isolated anonychia; isolated congenital anonychia","Name":"Anonychia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79143"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79143"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/79143","Source__c":"C0265998; MONDO:0019211; ORPHA:79143","Xref__c":"ORPHA:79143"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019211","Source__c":"GARD:0010048","Xref__c":"MONDO:0019211"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120563","Source__c":"C0265998","Xref__c":"MEDGEN:120563"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23610003","Source__c":"C0265998","Xref__c":"23610003"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001798","Source__c":"C0265998","Xref__c":"HP:0001798"},{"URL__c":"https://medlineplus.gov/genetics/condition/anonychia-congenita","Source__c":"GARD:0010048","Xref__c":"https://medlineplus.gov/genetics/condition/anonychia-congenita"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265998","Source__c":"C0265998","Xref__c":"C0265998"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["absent nails"," ann - anonychia"," aplastic nails"," congenital absent nails"," isolated anonychia"," isolated congenital anonychia"]}