{"Name":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","DiseaseID__c":"GARD:0005562","id":5562,"encodedName":"osteopathia-striata-pigmentary-dermopathy-white-forelock-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","Xref_IDs__c":"C2931096; C536054; MEDGEN:419711; MONDO:0017197; ORPHA:2779","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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:0017197","Disease_Description__c":"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.","GARD_Name__c":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","GARD_Synonym__c":"osteopathia striata associated with familial dermopathy and white forelock; osteopathia striata with pigmentary dermopathy including white forelock; osteopathia striata, pigmentary dermopathy, white forelock syndrome; whyte murphy syndrome; whyte-murphy syndrome","Curated_Disease_Description_Source__c":"MONDO:0017197","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2779","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017197","ORPHANET_ID__c":"ORPHA:2779","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de osteopatía estriada-hiperpigmentación-mechón blanco","Spanish_Description_Source__c":"ORPHA:2779","Spanish_Description__c":"Es una displasia ósea primaria rara que se caracteriza por la asociación de osteopatia estriada (estrías longitudinales a través de la mayor parte de los huesos largos) con una dermopatía macular hiperpigmentada y un mechón de pelo blanco.","Spanish_Disease_Name__c":"síndrome de osteopatía estriada-hiperpigmentación-mechón blanco","Spanish_GARD_Synonym__c":"síndrome de white-murphy","Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.","Curated_Disease_Description_Source__c":"MONDO:0017197","GARD_Synonym__c":"osteopathia striata associated with familial dermopathy and white forelock; osteopathia striata with pigmentary dermopathy including white forelock; osteopathia striata, pigmentary dermopathy, white forelock syndrome; whyte murphy syndrome; whyte-murphy syndrome","Name":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2779"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK569515","Source__c":"Gene Review","Xref__c":"NBK569515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536054","Source__c":"MONDO:0017197","Xref__c":"C536054"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419711","Source__c":"C2931096","Xref__c":"MEDGEN:419711"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931096","Source__c":"C2931096","Xref__c":"C2931096"},{"URL__c":"https://www.orpha.net/en/disease/detail/2779","Source__c":"C2931096; MONDO:0017197; ORPHA:2779","Xref__c":"ORPHA:2779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787408008","Source__c":"C2931096","Xref__c":"787408008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017197","Source__c":"GARD:0005562","Xref__c":"MONDO:0017197"}],"Inheritance__c":["Autosomal dominant","X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007412","HPO_Name__c":"Macular hyperpigmented dermopathy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010740","HPO_Name__c":"Osteopathia striata","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000940","HPO_Synonym__c":"Abnormal shape of shaft of long bone; Abnormality involving the diaphyses of the limbs; Abnormality of shaft of long bone of the limbs; Abnormality of the diaphyses; Anomaly of the limb diaphyses; Anomaly of the limb diaphyses morphology","HPO_Name__c":"Abnormal diaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100670","HPO_Synonym__c":"Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone","HPO_Name__c":"Coarse metaphyseal trabecularization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2779","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A triangular depigmented region of white hairs located in the anterior midline of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002211","HPO_Synonym__c":"Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead","HPO_Name__c":"White forelock","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["osteopathia striata associated with familial dermopathy and white forelock"," osteopathia striata with pigmentary dermopathy including white forelock"," osteopathia striata, pigmentary dermopathy, white forelock syndrome"," whyte murphy syndrome"," whyte-murphy syndrome"]}