{"Name":"Autosomal recessive hypohidrotic ectodermal dysplasia syndrome","DiseaseID__c":"GARD:0002057","id":2057,"encodedName":"autosomal-recessive-hypohidrotic-ectodermal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive hypohidrotic ectodermal dysplasia syndrome","Xref_IDs__c":"27025001; C0406702; C84580; D053360; MEDGEN:96067; MONDO:0016619; ORPHA:248","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016619","Disease_Description__c":"A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.","GARD_Name__c":"Autosomal recessive hypohidrotic ectodermal dysplasia syndrome","GARD_Synonym__c":"ar-hed; autosomal recessive anhidrotic ectodermal dysplasia; autosomal recessive hypohidrotic ectodermal dysplasia; hypohidrotic autosomal recessive ectodermal dysplasia; hypohidrotic ectodermal dysplasia, autosomal recessive","Curated_Disease_Description_Source__c":"MONDO:0016619","Curated_Disease_Description__c":"A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:248","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016619","ORPHANET_ID__c":"ORPHA:248","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia ectodérmica hipohidrótica autosómica recesiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia ectodérmica hipohidrótica autosómica recesiva","Spanish_GARD_Synonym__c":"deh-ar","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":"A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.","Curated_Disease_Description_Source__c":"MONDO:0016619","GARD_Synonym__c":"ar-hed; autosomal recessive anhidrotic ectodermal dysplasia; autosomal recessive hypohidrotic ectodermal dysplasia; hypohidrotic autosomal recessive ectodermal dysplasia; hypohidrotic ectodermal dysplasia, autosomal recessive","Name":"Autosomal recessive hypohidrotic ectodermal dysplasia syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:248"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:248"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002057","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1112","Source__c":"Gene Review","Xref__c":"NBK1112"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406702","Source__c":"C0406702","Xref__c":"C0406702"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96067","Source__c":"C0406702","Xref__c":"MEDGEN:96067"},{"URL__c":"https://www.orpha.net/en/disease/detail/248","Source__c":"C0406702; MONDO:0016619; ORPHA:248","Xref__c":"ORPHA:248"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84580","Source__c":"C0406702; MONDO:0016619","Xref__c":"C84580"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053360","Source__c":"C0406702; MONDO:0016619","Xref__c":"D053360"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=27025001","Source__c":"C0406702; MONDO:0016619","Xref__c":"27025001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016619","Source__c":"GARD:0002057","Xref__c":"MONDO:0016619"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WNT10A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wnt10a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CSTB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cstb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EDARADD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/edaradd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EDAR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/edar","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of the primary (also known as deciduous) teeth before the usual age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006323","HPO_Synonym__c":"Early loss of baby teeth; Early loss of deciduous teeth; Early loss of primary teeth; Premature deciduous tooth loss; Premature loss of baby teeth; Premature loss of deciduous teeth","HPO_Name__c":"Premature loss of primary teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000685","HPO_Synonym__c":"Hypoplastic teeth","HPO_Name__c":"Hypoplasia of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Odontology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["ar-hed"," autosomal recessive anhidrotic ectodermal dysplasia"," autosomal recessive hypohidrotic ectodermal dysplasia"," hypohidrotic autosomal recessive ectodermal dysplasia"," hypohidrotic ectodermal dysplasia, autosomal recessive"]}