{"Name":"Pure hair and nail ectodermal dysplasia","DiseaseID__c":"GARD:0016680","id":16680,"encodedName":"pure-hair-and-nail-ectodermal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Pure hair and nail ectodermal dysplasia","Xref_IDs__c":"C5979821; DOID:0111655; MEDGEN:1875649; MONDO:0019071; ORPHA:69084","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019071","Disease_Description__c":"Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.","GARD_Name__c":"Pure hair and nail ectodermal dysplasia","GARD_Synonym__c":"hair-nail ectodermal dysplasia; hned; phned","Curated_Disease_Description_Source__c":"ORPHA:69084","Curated_Disease_Description__c":"Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. The mode of transmission is autosomal dominant.","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:69084","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019071","ORPHANET_ID__c":"ORPHA:69084","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ectodérmica pura de cabello-uña","Spanish_Description_Source__c":"ORPHA:69084","Spanish_Description__c":"Es un síndrome caracterizado por una asociación de onicodistrofia e hipotricosis grave, que generalmente se limita al cuero cabelludo pero que también puede afectar a las pestañas y a las cejas. Hasta la fecha se han descrito menos de veinte casos. El modo de transmisión es autosómico dominante.","Spanish_Disease_Name__c":"displasia ectodérmica pura de cabello-uña","Spanish_GARD_Synonym__c":"displasia ectodérmica cabello-uña; hned","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":"Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. The mode of transmission is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:69084","GARD_Synonym__c":"hair-nail ectodermal dysplasia; hned; phned","Name":"Pure hair and nail ectodermal dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:69084"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69084"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/69084","Source__c":"C5979821; MONDO:0019071","Xref__c":"ORPHA:69084"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111655","Source__c":"MONDO:0019071","Xref__c":"DOID:0111655"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5979821","Source__c":"C5979821","Xref__c":"C5979821"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1875649","Source__c":"C5979821","Xref__c":"MEDGEN:1875649"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019071","Source__c":"GARD:0016680","Xref__c":"MONDO:0019071"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT74","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HOXC13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT85","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["hair-nail ectodermal dysplasia"," hned"," phned"]}