{"Name":"Pilodental dysplasia-refractive errors syndrome","DiseaseID__c":"GARD:0000277","id":277,"encodedName":"pilodental-dysplasia-refractive-errors-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pilodental dysplasia-refractive errors syndrome","Xref_IDs__c":"C1849805; C535763; MEDGEN:376661; MONDO:0009873; OMIM:262020; ORPHA:2892","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009873","Disease_Description__c":"Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Pilodental dysplasia-refractive errors syndrome","GARD_Synonym__c":"euhidrotic ectodermal dysplasia; kopysc barczyk krol syndrome; kopysc-barczyk-krol syndrome; pilodental dysplasia, refractive errors syndrome; trichodental dysplasia with hyperopia","Curated_Disease_Description_Source__c":"MONDO:0009873","Curated_Disease_Description__c":"Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.","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:2892","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009873","ORPHANET_ID__c":"ORPHA:2892","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia pilodental-errores refractivos","Spanish_Description_Source__c":"ORPHA:2892","Spanish_Description__c":"Síndrome de displasia pilodental - errores refractivos es un síndrome de displasia ectodérmica poco frecuente caracterizado por anomalías displásicas del cabello y los dientes (incluyendo hipodoncia, dientes con forma anómala, hipotricosis del cuero cabelludo y pili annulati), hiperqueratosis folicular en tronco y extremidades, e hipermetropía. También se han descrito delimitación intensificada e hiperpigmentación reticulada de la nuca, así como astigmatismo. No se han descrito más casos en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de displasia pilodental-errores refractivos","Spanish_GARD_Synonym__c":"síndrome de kopysc-barczyk-krol","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":"Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.","Curated_Disease_Description_Source__c":"MONDO:0009873","GARD_Synonym__c":"euhidrotic ectodermal dysplasia; kopysc barczyk krol syndrome; kopysc-barczyk-krol syndrome; pilodental dysplasia, refractive errors syndrome; trichodental dysplasia with hyperopia","Name":"Pilodental dysplasia-refractive errors syndrome","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":"Odontology","Tag_Category__c":"Specialist"},{"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":"Neonatal","Provided_By__c":"ORPHA:2892"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2892"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2892","Source__c":"C1849805; MONDO:0009873; ORPHA:2892","Xref__c":"ORPHA:2892"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376661","Source__c":"C1849805","Xref__c":"MEDGEN:376661"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849805","Source__c":"C1849805","Xref__c":"C1849805"},{"URL__c":"https://www.omim.org/entry/262020","Source__c":"C1849805; MONDO:0009873; ORPHA:2892","Xref__c":"OMIM:262020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535763","Source__c":"MONDO:0009873","Xref__c":"C535763"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009873","Source__c":"GARD:0000277","Xref__c":"MONDO:0009873"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771240009","Source__c":"C1849805","Xref__c":"771240009"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["euhidrotic ectodermal dysplasia"," kopysc barczyk krol syndrome"," kopysc-barczyk-krol syndrome"," pilodental dysplasia, refractive errors syndrome"," trichodental dysplasia with hyperopia"]}