{"Name":"Worth disease","DiseaseID__c":"GARD:0000390","id":390,"encodedName":"worth-disease","IsDeleted":false,"Disease_Name_Full__c":"Worth disease","Xref_IDs__c":"254131007; C0432273; DOID:0080037; MEDGEN:140932; MONDO:0007764; OMIM:144750; ORPHA:2790","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007764","Disease_Description__c":"A rare sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.","GARD_Name__c":"Worth disease","GARD_Synonym__c":"autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; autosomal dominant osteosclerosis, worth type; benign form of worth hyperostosis corticalis generalisata with torus platinus; endosteal hyperostosis, autosomal dominant; endosteal hyperostosis, worth type; hyperostosis corticalis generalisata, benign form of worth, with torus palatinus; hyperostosis, endosteal; osteosclerosis, autosomal dominant; ostéosclérose autosomique dominante type worth; worth syndrome; worth's syndrome","Curated_Disease_Description_Source__c":"ORPHA:2790","Curated_Disease_Description__c":"Endosteal hyperostosis, Worth type is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:2790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007764","ORPHANET_ID__c":"ORPHA:2790","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperostosis endostal tipo worth","Spanish_Description_Source__c":"ORPHA:2790","Spanish_Description__c":"Es un trastorno óseo esclerosante caracterizado por una densificación esquelética generalizada, particularmente de la calota craneal y de los huesos tubulares largos, que no se asocia con un mayor riesgo de fractura.","Spanish_Disease_Name__c":"hiperostosis endostal tipo worth","Spanish_GARD_Synonym__c":"osteosclerosis autosómica dominante tipo worth; síndrome de worth","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":"Endosteal hyperostosis, Worth type is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.","Curated_Disease_Description_Source__c":"ORPHA:2790","GARD_Synonym__c":"autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; autosomal dominant osteosclerosis, worth type; benign form of worth hyperostosis corticalis generalisata with torus platinus; endosteal hyperostosis, autosomal dominant; endosteal hyperostosis, worth type; hyperostosis corticalis generalisata, benign form of worth, with torus palatinus; hyperostosis, endosteal; osteosclerosis, autosomal dominant; ostéosclérose autosomique dominante type worth; worth syndrome; worth's syndrome","Name":"Worth disease","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":"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":"Adolescent","Provided_By__c":"ORPHA:2790"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432273"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000390","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140932","Source__c":"C0432273","Xref__c":"MEDGEN:140932"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432273","Source__c":"C0432273","Xref__c":"C0432273"},{"URL__c":"https://www.orpha.net/en/disease/detail/2790","Source__c":"C0432273; MONDO:0007764; ORPHA:2790","Xref__c":"ORPHA:2790"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254131007","Source__c":"C0432273; MONDO:0007764","Xref__c":"254131007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080037","Source__c":"MONDO:0007764","Xref__c":"DOID:0080037"},{"URL__c":"https://www.omim.org/entry/144750","Source__c":"C0432273; MONDO:0007764; ORPHA:2790","Xref__c":"OMIM:144750"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007764","Source__c":"GARD:0000390","Xref__c":"MONDO:0007764"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRP5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lrp5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density with generalized involvement of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005789","HPO_Synonym__c":"Diffuse, symmetrical osteosclerosis; Osteosclerosis, diffuse symmetrical","HPO_Name__c":"Generalized osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in bone density of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100861","HPO_Synonym__c":"Vertebral body sclerosis","HPO_Name__c":"Sclerotic vertebral body","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005019","HPO_Synonym__c":"Diaphyseal widening; Thickening of shaft or central part of long bones; Undertubulated long bones; Undertubulation of diaphyses","HPO_Name__c":"Diaphyseal undertubulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bony protrusion present on the midline of the hard palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100789","HPO_Synonym__c":"Palatal tori; Palatal torus; Palate exostoses","HPO_Name__c":"Torus palatinus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in bone density within the clavicle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100923","HPO_Synonym__c":"Increased bone density in collarbone; Osteosclerosis of the clavicle","HPO_Name__c":"Clavicular sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003103","HPO_Synonym__c":"Abnormal compact bone morphology; Abnormality of cortical bone","HPO_Name__c":"Abnormal cortical bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2790","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth of the craniofacial bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004493","HPO_Synonym__c":"Excessive bone growth of the skull and face; Hyperostosis of craniofacial bones; Increased ossification of craniofacial bones","HPO_Name__c":"Craniofacial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["autosomal dominant endosteal hyperostosis"," autosomal dominant osteosclerosis"," autosomal dominant osteosclerosis, worth type"," benign form of worth hyperostosis corticalis generalisata with torus platinus"," endosteal hyperostosis, autosomal dominant"," endosteal hyperostosis, worth type"," hyperostosis corticalis generalisata, benign form of worth, with torus palatinus"," hyperostosis, endosteal"," osteosclerosis, autosomal dominant"," ostéosclérose autosomique dominante type worth"," worth syndrome"," worth's syndrome"]}