{"Name":"Spondyloepiphyseal dysplasia tarda, autosomal dominant","DiseaseID__c":"GARD:0010624","id":10624,"encodedName":"spondyloepiphyseal-dysplasia-tarda-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepiphyseal dysplasia tarda, autosomal dominant","Xref_IDs__c":"C1866717; C566658; DOID:0112285; MEDGEN:355785; MONDO:0008474; OMIM:184100","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008474","Disease_Description__c":"Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.","GARD_Name__c":"Spondyloepiphyseal dysplasia tarda, autosomal dominant","GARD_Synonym__c":"autosomal dominant spondyloepiphyseal dysplasia tarda","Curated_Disease_Description_Source__c":"GARD:0010624","Curated_Disease_Description__c":"Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Some cases of autosomal dominant SEDT may be caused by changes in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93284","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008474","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":"Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Some cases of autosomal dominant SEDT may be caused by changes in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0010624","GARD_Synonym__c":"autosomal dominant spondyloepiphyseal dysplasia tarda","Name":"Spondyloepiphyseal dysplasia tarda, autosomal dominant","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Restricted Growth Association","Website__c":"https://rgauk.org/"},{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.org/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010624","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112285","Source__c":"MONDO:0008474","Xref__c":"DOID:0112285"},{"URL__c":"https://www.omim.org/entry/184100","Source__c":"C1866717; MONDO:0008474","Xref__c":"OMIM:184100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355785","Source__c":"C1866717","Xref__c":"MEDGEN:355785"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866717","Source__c":"C1866717","Xref__c":"C1866717"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566658","Source__c":"MONDO:0008474","Xref__c":"C566658"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008474","Source__c":"GARD:0010624","Xref__c":"MONDO:0008474"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001552","HPO_Synonym__c":"Barrel chest; Barrel-shaped chest","HPO_Name__c":"Barrel-shaped chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A partial dislocation of one or more intervertebral joints in the cervical vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003308","HPO_Name__c":"Cervical subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003301","HPO_Synonym__c":"end-plate irregularities; endplate irregularities; endplate irregularity; Irregular end plates; Irregular endplates; irregular vertebral plates; vertebral endplate irregularity","HPO_Name__c":"Irregular vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030838","HPO_Synonym__c":"Hip pain","HPO_Name__c":"Hip pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008922","HPO_Synonym__c":"Childhood-onset short-trunk short stature; Disproportionate short-trunk short stature, identifiable in childhood; Short-trunk dwarfism identifiable during childhood","HPO_Name__c":"Childhood-onset short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005743","HPO_Synonym__c":"Osteochondrosis of the femoral head; Osteonecrosis of the femoral head; Perthes-like femoral head changes","HPO_Name__c":"Avascular necrosis of the capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002655","HPO_Name__c":"Spondyloepiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184100","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal dominant spondyloepiphyseal dysplasia tarda"]}