{"Name":"Camptomelic syndrome, long-limb type","DiseaseID__c":"GARD:0001071","id":1071,"encodedName":"camptomelic-syndrome-long-limb-type","IsDeleted":false,"Disease_Name_Full__c":"Camptomelic syndrome, long-limb type","Xref_IDs__c":"C1859354; C537977; MEDGEN:347129; MONDO:0008904; OMIM:211990","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:211990","Disease_Description__c":null,"GARD_Name__c":"Camptomelic syndrome, long-limb type","GARD_Synonym__c":"campomelic syndrome long limb type","Curated_Disease_Description_Source__c":"OMIM:211990","Curated_Disease_Description__c":"Camptomelic syndrome, long-limb type is characterized by bent bones of normal width and only slightly shortened. The arms are rarely involved. This condition may be inherited in an autosomal recessive manner. Infants with this condition typically do not live long after birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:211990","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008904","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Camptomelic syndrome, long-limb type is characterized by bent bones of normal width and only slightly shortened. The arms are rarely involved. This condition may be inherited in an autosomal recessive manner. Infants with this condition typically do not live long after birth.","Curated_Disease_Description_Source__c":"OMIM:211990","GARD_Synonym__c":"campomelic syndrome long limb type","Name":"Camptomelic syndrome, long-limb type","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859354","Source__c":"C1859354","Xref__c":"C1859354"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537977","Source__c":"MONDO:0008904","Xref__c":"C537977"},{"URL__c":"https://www.omim.org/entry/211990","Source__c":"C1859354; MONDO:0008904","Xref__c":"OMIM:211990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347129","Source__c":"C1859354","Xref__c":"MEDGEN:347129"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008904","Source__c":"GARD:0001071","Xref__c":"MONDO:0008904"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:211990","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:211990","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["campomelic syndrome long limb type"]}