{"Name":"Marie Unna syndrome","DiseaseID__c":"GARD:0003390","id":3390,"encodedName":"marie-unna-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Marie Unna syndrome","Xref_IDs__c":"254234005; C2931059; C535912; MEDGEN:419706; MONDO:0018631; ORPHA:444","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018631","Disease_Description__c":"A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","GARD_Name__c":"Marie Unna syndrome","GARD_Synonym__c":"hr hypotrichosis; hypotrichosis caused by mutation in hr; hypotrichosis, marie unna type; marie unna congenital hypotrichosis; marie unna hereditary hypotrichosis; muhh","Curated_Disease_Description_Source__c":"MONDO:0018631","Curated_Disease_Description__c":"A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","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:444","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018631","ORPHANET_ID__c":"ORPHA:444","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotricosis hereditaria de marie unna","Spanish_Description_Source__c":"ORPHA:444","Spanish_Description__c":"Es un trastorno autosómico dominante poco frecuente de pérdida de pelo caracterizado por la ausencia o escasez de pelo en el cuero cabelludo, las cejas y las pestañas al nacer; pelo grueso y encrespado durante la infancia; y pérdida progresiva de pelo que comienza alrededor de la pubertad.","Spanish_Disease_Name__c":"hipotricosis hereditaria de marie unna","Spanish_GARD_Synonym__c":"hipotricosis congénita de marie unna; hipotricosis tipo marie unna; muhh","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":"A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.","Curated_Disease_Description_Source__c":"MONDO:0018631","GARD_Synonym__c":"hr hypotrichosis; hypotrichosis caused by mutation in hr; hypotrichosis, marie unna type; marie unna congenital hypotrichosis; marie unna hereditary hypotrichosis; muhh","Name":"Marie Unna syndrome","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:444"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:444"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003390","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419706","Source__c":"C2931059","Xref__c":"MEDGEN:419706"},{"URL__c":"https://www.orpha.net/en/disease/detail/444","Source__c":"C2931059; MONDO:0018631; ORPHA:444","Xref__c":"ORPHA:444"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535912","Source__c":"MONDO:0018631","Xref__c":"C535912"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931059","Source__c":"C2931059","Xref__c":"C2931059"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254234005","Source__c":"C2931059","Xref__c":"254234005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018631","Source__c":"GARD:0003390","Xref__c":"MONDO:0018631"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EPS8L3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:444","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:444","HPO_Frequency__c":"Very frequent (80-99%)","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:444","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":"ORPHA:444","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":"ORPHA:444","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["hr hypotrichosis"," hypotrichosis caused by mutation in hr"," hypotrichosis, marie unna type"," marie unna congenital hypotrichosis"," marie unna hereditary hypotrichosis"," muhh"]}