{"Name":"Pili torti","DiseaseID__c":"GARD:0004361","id":4361,"encodedName":"pili-torti","IsDeleted":false,"Disease_Name_Full__c":"Pili torti","Xref_IDs__c":"17170005; C0263491; C562485; HP:0003777; MEDGEN:82670; MONDO:0009870; OMIM:261900; ORPHA:2889","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009870","Disease_Description__c":"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).","GARD_Name__c":"Pili torti","GARD_Synonym__c":"flattened and twisted hair; pili torti (disease); pili torti, early-onset; pili torti, ronchese type; twisted hair","Curated_Disease_Description_Source__c":"GARD:0004361","Curated_Disease_Description__c":"Pili torti is a rare hair condition characterized by fragile hair. In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. If Pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.","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:2889","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009870","ORPHANET_ID__c":"ORPHA:2889","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pili torti","Spanish_Description_Source__c":"ORPHA:2889","Spanish_Description__c":"El pilo torti es una anomalía del tallo del pelo que se caracteriza por un pelo liso que se retuerce a intervalos irregulares. El pelo es normal al nacimiento pero progresivamente deja de crecer a lo largo y se vuelve frágil. El pilo torti puede ser aislado o darse en asociación con otros síndromes como la enfermedad de Menkes o el síndrome de Bazex (consulte estos términos).","Spanish_Disease_Name__c":"pili torti","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":"Pili torti is a rare hair condition characterized by fragile hair. In Pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. If Pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.","Curated_Disease_Description_Source__c":"GARD:0004361","GARD_Synonym__c":"flattened and twisted hair; pili torti (disease); pili torti, early-onset; pili torti, ronchese type; twisted hair","Name":"Pili torti","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":"Neonatal","Provided_By__c":"ORPHA:2889"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2889"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2889","Source__c":"C0263491; MONDO:0009870; ORPHA:2889","Xref__c":"ORPHA:2889"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263491","Source__c":"C0263491","Xref__c":"C0263491"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82670","Source__c":"C0263491","Xref__c":"MEDGEN:82670"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562485","Source__c":"MONDO:0009870","Xref__c":"C562485"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17170005","Source__c":"C0263491; MONDO:0009870","Xref__c":"17170005"},{"URL__c":"https://www.omim.org/entry/261900","Source__c":"C0263491; MONDO:0009870; ORPHA:2889","Xref__c":"OMIM:261900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009870","Source__c":"GARD:0004361","Xref__c":"MONDO:0009870"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003777","Source__c":"C0263491","Xref__c":"HP:0003777"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","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:2889","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the texture of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010719","HPO_Synonym__c":"Abnormality of hair texture","HPO_Name__c":"Abnormality of hair texture","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2889","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003777","HPO_Synonym__c":"Flattened and twisted hair","HPO_Name__c":"Pili torti","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["flattened and twisted hair"," pili torti (disease)"," pili torti, early-onset"," pili torti, ronchese type"," twisted hair"]}