{"Name":"Isolated anterior cervical hypertrichosis","DiseaseID__c":"GARD:0008438","id":8438,"encodedName":"isolated-anterior-cervical-hypertrichosis","IsDeleted":false,"Disease_Name_Full__c":"Isolated anterior cervical hypertrichosis","Xref_IDs__c":"717963001; C1838123; C538390; MEDGEN:325346; MONDO:0010887; OMIM:600457; ORPHA:3387","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010887","Disease_Description__c":"A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.","GARD_Name__c":"Isolated anterior cervical hypertrichosis","GARD_Synonym__c":"anterior cervical hypertrichosis; congenital cervical hypertrichosis; hairy throat syndrome; hypertrichosis, congenital anterior cervical; tsukahara kajii syndrome; tsukahara-kajii syndrome","Curated_Disease_Description_Source__c":"MONDO:0010887","Curated_Disease_Description__c":"A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3387","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010887","ORPHANET_ID__c":"ORPHA:3387","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertricosis cervical anterior aislada","Spanish_Description_Source__c":"ORPHA:3387","Spanish_Description__c":"Es una forma poco frecuente de hipertricosis localizada, caracterizada por el crecimiento del cabello cerca de la prominencia laríngea durante la infancia.","Spanish_Disease_Name__c":"hipertricosis cervical anterior aislada","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":"A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.","Curated_Disease_Description_Source__c":"MONDO:0010887","GARD_Synonym__c":"anterior cervical hypertrichosis; congenital cervical hypertrichosis; hairy throat syndrome; hypertrichosis, congenital anterior cervical; tsukahara kajii syndrome; tsukahara-kajii syndrome","Name":"Isolated anterior cervical hypertrichosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Childhood","Provided_By__c":"ORPHA:3387"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3387","Source__c":"C1838123; MONDO:0010887; ORPHA:3387","Xref__c":"ORPHA:3387"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717963001","Source__c":"C1838123; MONDO:0010887","Xref__c":"717963001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838123","Source__c":"C1838123","Xref__c":"C1838123"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325346","Source__c":"C1838123","Xref__c":"MEDGEN:325346"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538390","Source__c":"MONDO:0010887","Xref__c":"C538390"},{"URL__c":"https://www.omim.org/entry/600457","Source__c":"C1838123; MONDO:0010887; ORPHA:3387","Xref__c":"OMIM:600457"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004535","Source__c":"C1838123","Xref__c":"HP:0004535"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010887","Source__c":"GARD:0008438","Xref__c":"MONDO:0010887"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600457","Feature__r":{"HPO_Description__c":"Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004535","HPO_Synonym__c":"Congenital cervical hypertrichosis; Hypertrichosis, congenital anterior cervical","HPO_Name__c":"Anterior cervical hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["anterior cervical hypertrichosis"," congenital cervical hypertrichosis"," hairy throat syndrome"," hypertrichosis, congenital anterior cervical"," tsukahara kajii syndrome"," tsukahara-kajii syndrome"]}