{"Name":"Ectodermal dysplasia","DiseaseID__c":"GARD:0006317","id":6317,"encodedName":"ectodermal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Ectodermal dysplasia","Xref_IDs__c":"8654005; C0013575; C84683; D004476; DOID:2121; HP:0000968; MEDGEN:8544; MONDO:0019287; OMIMPS:305100; ORPHA:79373","USA_Estimate__c":"200,000","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":"5,000,000 to 7,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019287","Disease_Description__c":"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.","GARD_Name__c":"Ectodermal dysplasia","GARD_Synonym__c":"congenital ectodermal defect; ectodermal dysplasia (select examples); ectodermal dysplasia syndrome","Curated_Disease_Description_Source__c":"GARD:0006317","Curated_Disease_Description__c":"Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by genetic changes in different genes, and can be inherited in a variety of ways.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79373","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019287","ORPHANET_ID__c":"ORPHA:79373","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia ectodérmica","Spanish_Description_Source__c":"ORPHA:79373","Spanish_Description__c":"El término ''displasia ectodérmica'' define un grupo heterogéneo de enfermedades hereditarias de la piel y sus anejos, que se caracteriza por defectos en el desarrollo de dos o más derivados ectodérmicos, que incluyen el cabello, los dientes, las uñas, las glándulas sudoríparas y sus estructuras modificadas (es decir, las glándulas ceruminosas, mamarias y ciliares). El espectro de manifestaciones clínicas es amplio y puede incluir manifestaciones adicionales de otras estructuras ectodérmicas, mesodérmicas y endodérmicas.","Spanish_Disease_Name__c":"síndrome de displasia ectodérmica","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":"Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by genetic changes in different genes, and can be inherited in a variety of ways.","Curated_Disease_Description_Source__c":"GARD:0006317","GARD_Synonym__c":"congenital ectodermal defect; ectodermal dysplasia (select examples); ectodermal dysplasia syndrome","Name":"Ectodermal dysplasia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Mexicana de Displasias Ectodérmicas","Website__c":"http://www.amdem.org.mx/index.html"},{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"The Ectodermal Dysplasia Society","Website__c":"https://edsociety.co.uk/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"World Craniofacial Foundation","Website__c":"https://www.worldcf.org/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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:79373"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79373"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0013575"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8544","Source__c":"C0013575","Xref__c":"MEDGEN:8544"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004476","Source__c":"C0013575; MONDO:0019287","Xref__c":"D004476"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS305100","Source__c":"MONDO:0019287","Xref__c":"OMIMPS:305100"},{"URL__c":"https://www.orpha.net/en/disease/detail/79373","Source__c":"C0013575; MONDO:0019287; ORPHA:79373","Xref__c":"ORPHA:79373"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8654005","Source__c":"C0013575; MONDO:0019287","Xref__c":"8654005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013575","Source__c":"C0013575","Xref__c":"C0013575"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2121","Source__c":"MONDO:0019287","Xref__c":"DOID:2121"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84683","Source__c":"C0013575; MONDO:0019287","Xref__c":"C84683"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254154003","Source__c":"C0013575","Xref__c":"254154003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019287","Source__c":"GARD:0006317","Xref__c":"MONDO:0019287"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000968","Source__c":"C0013575","Xref__c":"HP:0000968"},{"URL__c":"https://www.nidcr.nih.gov/health-info/ectodermal-dysplasia"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["congenital ectodermal defect"," ectodermal dysplasia (select examples)"," ectodermal dysplasia syndrome"],"spanishId":13327,"spanishName":"displasias-ectodermicas"}