{"Name":"Pili annulati","DiseaseID__c":"GARD:0004359","id":4359,"encodedName":"pili-annulati","IsDeleted":false,"Disease_Name_Full__c":"Pili annulati","Xref_IDs__c":"21926007; C0263489; C537187; MEDGEN:75523; MONDO:0008388; OMIM:180600; ORPHA:169","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008388","Disease_Description__c":"A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.","GARD_Name__c":"Pili annulati","GARD_Synonym__c":"ringed hair; ringed hair disease","Curated_Disease_Description_Source__c":"GARD:0004359","Curated_Disease_Description__c":"Ringed hair disease is a hair disorder. In Ringed hair disease, affected hair has a pattern of light and dark banding. People with Ringed hair disease may describe their hair as \"\"striped\"\" or as having silvery beads. Ringed hair disease typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008388","ORPHANET_ID__c":"ORPHA:169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del cabello ensortijado","Spanish_Description_Source__c":"ORPHA:169","Spanish_Description__c":"Es una anomalía aislada benigna del tallo piloso que, por lo general, se presenta después de los 2 años de edad y afecta al cuero cabelludo o muy raramente al pelo de la barba, axilar o púbico. El pelo se caracteriza por una apariencia en bandas o moteada, debida a la alternancia de bandas claras (que corresponden a cavidades llenas de aire dentro de la corteza de los tallos afectos) y bandas oscuras. Las bandas tienen una duración de por vida y se detectan únicamente por microscopia óptica, resultando más evidentes en el cabello rubio o con el encanecimiento asociado a la edad y en la gran mayoría de los casos no afectan ni al crecimiento del pelo ni a su fragilidad.","Spanish_Disease_Name__c":"enfermedad del cabello ensortijado","Spanish_GARD_Synonym__c":"pili annulati","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":"Ringed hair disease is a hair disorder. In Ringed hair disease, affected hair has a pattern of light and dark banding. People with Ringed hair disease may describe their hair as \"\"striped\"\" or as having silvery beads. Ringed hair disease typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.","Curated_Disease_Description_Source__c":"GARD:0004359","GARD_Synonym__c":"ringed hair; ringed hair disease","Name":"Pili annulati","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":"Childhood","Provided_By__c":"ORPHA:169"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263489","Source__c":"C0263489","Xref__c":"C0263489"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75523","Source__c":"C0263489","Xref__c":"MEDGEN:75523"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=21926007","Source__c":"C0263489; MONDO:0008388","Xref__c":"21926007"},{"URL__c":"https://www.omim.org/entry/180600","Source__c":"C0263489; MONDO:0008388; ORPHA:169","Xref__c":"OMIM:180600"},{"URL__c":"https://www.orpha.net/en/disease/detail/169","Source__c":"C0263489; MONDO:0008388; ORPHA:169","Xref__c":"ORPHA:169"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537187","Source__c":"MONDO:0008388","Xref__c":"C537187"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008388","Source__c":"GARD:0004359","Xref__c":"MONDO:0008388"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the distribution of hair growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010720","HPO_Synonym__c":"Abnormal distribution of hair; Abnormal hair pattern","HPO_Name__c":"Abnormal hair pattern","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ringed hair"," ringed hair disease"]}