{"Name":"Weill-Marchesani syndrome 2, dominant","DiseaseID__c":"GARD:0002452","id":2452,"encodedName":"weill-marchesani-syndrome-2-dominant","IsDeleted":false,"Disease_Name_Full__c":"Weill-Marchesani syndrome 2, dominant","Xref_IDs__c":"722450007; C1869115; MEDGEN:358388; MONDO:0012013; OMIM:608328; ORPHA:2084","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012013","Disease_Description__c":"A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.","GARD_Name__c":"Weill-Marchesani syndrome 2, dominant","GARD_Synonym__c":"fbn1-related weill-marchesani syndrome; gemss; gemss syndrome; glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome; glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome; glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome; weill-marchesani syndrome 2; weill-marchesani syndrome type 2; weill-marchesani syndrome, autosomal dominant; wms2","Curated_Disease_Description_Source__c":"MONDO:0012013","Curated_Disease_Description__c":"A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2084","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012013","ORPHANET_ID__c":"ORPHA:2084","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de glaucoma-ectopia lentis-microesferofaquia-rigidez articular-talla baja","Spanish_Description_Source__c":"ORPHA:2084","Spanish_Description__c":"Es un trastorno ocular sindrómico de origen genético poco frecuente caracterizado por rigidez articular progresiva, glaucoma, talla baja y luxación del cristalino. Este síndrome muestra similitud con el síndrome de Moore-Federman.","Spanish_Disease_Name__c":"síndrome de glaucoma-ectopia lentis-microesferofaquia-rigidez articular-talla baja","Spanish_GARD_Synonym__c":"síndrome gemss","Category_Linearization__c":"ORPHA:93890","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 genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.","Curated_Disease_Description_Source__c":"MONDO:0012013","GARD_Synonym__c":"fbn1-related weill-marchesani syndrome; gemss; gemss syndrome; glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome; glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome; glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome; weill-marchesani syndrome 2; weill-marchesani syndrome type 2; weill-marchesani syndrome, autosomal dominant; wms2","Name":"Weill-Marchesani syndrome 2, dominant","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2084"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002452","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1114","Source__c":"Gene Review","Xref__c":"NBK1114"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722450007","Source__c":"MONDO:0012013","Xref__c":"722450007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1869115","Source__c":"C1869115","Xref__c":"C1869115"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358388","Source__c":"C1869115","Xref__c":"MEDGEN:358388"},{"URL__c":"https://www.orpha.net/en/disease/detail/2084","Source__c":"C1869115; MONDO:0012013","Xref__c":"ORPHA:2084"},{"URL__c":"https://www.omim.org/entry/608328","Source__c":"C1869115; MONDO:0012013; ORPHA:2084","Xref__c":"OMIM:608328"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012013","Source__c":"GARD:0002452","Xref__c":"MONDO:0012013"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FBN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fbn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2084","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2084","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001083","HPO_Synonym__c":"Abnormality of lens position; Lens dislocation","HPO_Name__c":"Ectopia lentis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2084","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["fbn1-related weill-marchesani syndrome"," gemss"," gemss syndrome"," glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"," glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome"," glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome"," weill-marchesani syndrome 2"," weill-marchesani syndrome type 2"," weill-marchesani syndrome, autosomal dominant"," wms2"]}