{"Name":"Cutis gyrata of scalp","DiseaseID__c":"GARD:0001643","id":1643,"encodedName":"cutis-gyrata-of-scalp","IsDeleted":false,"Disease_Name_Full__c":"Cutis gyrata of scalp","Xref_IDs__c":"51603000; C0263417; HP:0010541; MEDGEN:78095; MONDO:0019033; ORPHA:671","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019033","Disease_Description__c":"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.","GARD_Name__c":"Cutis gyrata of scalp","GARD_Synonym__c":"cutis verticis gyrata; furrows in thickened skin on top of scalp; primary cutis verticis gyrata; scalp folds; scalp furrows; scalp rugae; thickened folds on top of scalp; thickening of the scalp","Curated_Disease_Description_Source__c":"GARD:0001643","Curated_Disease_Description__c":"Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain. It occurs more commonly in males, and most commonly develops after puberty. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric disorders, eye abnormalities, or inflammatory conditions. While most isolated cases of unknown cause are sporadic, autosomal recessive and autosomal dominant inheritance with varying degrees of severity have been described. In cases associated with underlying conditions, the cause depends on the underlying condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:671","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019033","ORPHANET_ID__c":"ORPHA:671","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cutis verticis gyrata primaria","Spanish_Description_Source__c":"ORPHA:671","Spanish_Description__c":"Es un trastorno cutáneo progresivo que afecta sobre todo a varones y que se caracteriza por hipertrofia y engrosamiento de la piel del cuero cabelludo formando arrugas intrincadas con pliegues cutáneos profundos, blandos y cerebriformes. El pelo suele ser normal en las arrugas y escaso en los pliegues. Puede ser aislado o asociado a otras anomalías como déficit intelectual, epilepsia, cataratas, ceguera, y sordera.","Spanish_Disease_Name__c":"cutis verticis gyrata primaria","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":"Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain. It occurs more commonly in males, and most commonly develops after puberty. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric disorders, eye abnormalities, or inflammatory conditions. While most isolated cases of unknown cause are sporadic, autosomal recessive and autosomal dominant inheritance with varying degrees of severity have been described. In cases associated with underlying conditions, the cause depends on the underlying condition.","Curated_Disease_Description_Source__c":"GARD:0001643","GARD_Synonym__c":"cutis verticis gyrata; furrows in thickened skin on top of scalp; primary cutis verticis gyrata; scalp folds; scalp furrows; scalp rugae; thickened folds on top of scalp; thickening of the scalp","Name":"Cutis gyrata of scalp","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"All ages","Provided_By__c":"ORPHA:671"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78095","Source__c":"C0263417","Xref__c":"MEDGEN:78095"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263417","Source__c":"C0263417","Xref__c":"C0263417"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51603000","Source__c":"C0263417; MONDO:0019033","Xref__c":"51603000"},{"URL__c":"https://www.orpha.net/en/disease/detail/671","Source__c":"C0263417; MONDO:0019033; ORPHA:671","Xref__c":"ORPHA:671"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010541","Source__c":"C0263417","Xref__c":"HP:0010541"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019033","Source__c":"GARD:0001643","Xref__c":"MONDO:0019033"}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["cutis verticis gyrata"," furrows in thickened skin on top of scalp"," primary cutis verticis gyrata"," scalp folds"," scalp furrows"," scalp rugae"," thickened folds on top of scalp"," thickening of the scalp"]}