{"Name":"Wooly hair","DiseaseID__c":"GARD:0005597","id":5597,"encodedName":"wooly-hair","IsDeleted":false,"Disease_Name_Full__c":"Wooly hair","Xref_IDs__c":"52564001; C0343073; C536745; DOID:0111572; MEDGEN:87469; MONDO:0008686; ORPHA:170","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:0008686","Disease_Description__c":"A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.","GARD_Name__c":"Wooly hair","GARD_Synonym__c":"afro-textured hair; familial woolly hair syndrome; familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; isolated familial woolly hair disorder; isolated familial wooly hair disorder; kinked hair; kinky hair texture; nappy hair texture; woolly hair","Curated_Disease_Description_Source__c":"MONDO:0008686","Curated_Disease_Description__c":"A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.","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:170","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008686","ORPHANET_ID__c":"ORPHA:170","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cabello lanoso","Spanish_Description_Source__c":"ORPHA:170","Spanish_Description__c":"Es una enfermedad congénita cutánea poco frecuente, definida como una anomalía de la estructura capilar y que se caracteriza por un cabello extremadamente rizado.","Spanish_Disease_Name__c":"cabello lanoso","Spanish_GARD_Synonym__c":"síndrome de cabello lanoso familiar; síndrome de cabello lanoso hereditario; síndrome de pelo lanoso","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 congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.","Curated_Disease_Description_Source__c":"MONDO:0008686","GARD_Synonym__c":"afro-textured hair; familial woolly hair syndrome; familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; isolated familial woolly hair disorder; isolated familial wooly hair disorder; kinked hair; kinky hair texture; nappy hair texture; woolly hair","Name":"Wooly hair","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:170"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:170"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005597","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111572","Source__c":"MONDO:0008686","Xref__c":"DOID:0111572"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343073","Source__c":"C0343073","Xref__c":"C0343073"},{"URL__c":"https://www.orpha.net/en/disease/detail/170","Source__c":"C0343073; MONDO:0008686; ORPHA:170","Xref__c":"ORPHA:170"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52564001","Source__c":"MONDO:0008686","Xref__c":"52564001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87469","Source__c":"C0343073","Xref__c":"MEDGEN:87469"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536745","Source__c":"MONDO:0008686","Xref__c":"C536745"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002224","Source__c":"C0343073","Xref__c":"HP:0002224"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008686","Source__c":"GARD:0005597","Xref__c":"MONDO:0008686"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/liph","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT71","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LPAR6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lpar6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT25","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT74","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Very frequent (80-99%)","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:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased density/number and/or decreased diameter of lateral eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005338","HPO_Synonym__c":"Lateral hypoplasia of eyebrows; Lateral thinning of eyebrows; Laterally sparse eyebrow; Laterally sparse eyebrows; Limited hair on end of eyebrow","HPO_Name__c":"Sparse lateral eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002224","HPO_Synonym__c":"Kinked hair; Wooly hair","HPO_Name__c":"Woolly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005599","HPO_Synonym__c":"Hair hypopigmentation; Loss of hair color","HPO_Name__c":"Hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000479","HPO_Synonym__c":"Abnormal retina; Abnormality of the retina; Anomaly of the retina; Retina issue","HPO_Name__c":"Abnormal retinal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002217","HPO_Synonym__c":"Delayed hair growth; Poor hair growth; Slow growing hair; Slow rate of hair growth; Slow speed of hair growth; Slow-growing hair","HPO_Name__c":"Slow-growing hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:170","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:170","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":["afro-textured hair"," familial woolly hair syndrome"," familial wooly hair syndrome"," hereditary woolly hair syndrome"," hereditary wooly hair syndrome"," isolated familial woolly hair disorder"," isolated familial wooly hair disorder"," kinked hair"," kinky hair texture"," nappy hair texture"," woolly hair"]}