{"Name":"Ectodermal dysplasia 8, hair/tooth/nail type","DiseaseID__c":"GARD:0016903","id":16903,"encodedName":"ectodermal-dysplasia-8-hairtoothnail-type","IsDeleted":false,"Disease_Name_Full__c":"Ectodermal dysplasia 8, hair/tooth/nail type","Xref_IDs__c":"239020008; C3551424; DOID:0111661; MEDGEN:764338; MONDO:0011219; OMIM:602401; ORPHA:99672","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:99672","Disease_Description__c":"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.","GARD_Name__c":"Ectodermal dysplasia 8, hair/tooth/nail type","GARD_Synonym__c":"fried's tooth and nail syndrome","Curated_Disease_Description_Source__c":"ORPHA:99672","Curated_Disease_Description__c":"A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:99672","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011219","ORPHANET_ID__c":"ORPHA:99672","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome diente-uña de fried","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome diente-uña de fried","Spanish_GARD_Synonym__c":null,"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, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.","Curated_Disease_Description_Source__c":"ORPHA:99672","GARD_Synonym__c":"fried's tooth and nail syndrome","Name":"Ectodermal dysplasia 8, hair/tooth/nail type","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":"Neonatal","Provided_By__c":"ORPHA:99672"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:99672"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99672"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/602401","Source__c":"C3551424; MONDO:0011219; ORPHA:99672","Xref__c":"OMIM:602401"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239020008","Source__c":"MONDO:0011219","Xref__c":"239020008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111661","Source__c":"MONDO:0011219","Xref__c":"DOID:0111661"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3551424","Source__c":"C3551424","Xref__c":"C3551424"},{"URL__c":"https://www.orpha.net/en/disease/detail/99672","Source__c":"C3551424; MONDO:0011219","Xref__c":"ORPHA:99672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=764338","Source__c":"C3551424","Xref__c":"MEDGEN:764338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011219","Source__c":"GARD:0016903","Xref__c":"MONDO:0011219"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040079","HPO_Synonym__c":"Irregular teeth","HPO_Name__c":"Irregular dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006349","HPO_Synonym__c":"Absence of adult teeth; Absence of permanent teeth; Absence of secondary dentition; Absent permanent teeth; Agenesis of permanent dentition; Agenesis of secondary dentition; Failure of development of permanent teeth; Failure of development of secondary teeth; Missing permanent teeth; No permanent dentition","HPO_Name__c":"Agenesis of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001572","HPO_Synonym__c":"Increased size of tooth; Increased width of tooth; Large tooth; Megalodontia","HPO_Name__c":"Macrodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001810","HPO_Synonym__c":"Dystrophic toenail changes; Poor toenail formation","HPO_Name__c":"Dystrophic toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200102","HPO_Synonym__c":"Sparse or absent eyelashes","HPO_Name__c":"Sparse or absent eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602401","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008391","HPO_Synonym__c":"Poor fingernail formation","HPO_Name__c":"Dystrophic fingernails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["fried's tooth and nail syndrome"]}