{"Name":"Namaqualand hip dysplasia","DiseaseID__c":"GARD:0016812","id":16812,"encodedName":"namaqualand-hip-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Namaqualand hip dysplasia","Xref_IDs__c":"254064009; C0432214; C202115; C565740; MEDGEN:609409; MONDO:0011496; OMIM:604864; ORPHA:93279","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011496","Disease_Description__c":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.","GARD_Name__c":"Namaqualand hip dysplasia","GARD_Synonym__c":"mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis; oscdp","Curated_Disease_Description_Source__c":"MONDO:0011496","Curated_Disease_Description__c":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:93279","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011496","ORPHANET_ID__c":"ORPHA:93279","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteoartritis de inicio precoz con displasia espondiloepifisaria leve por una mutación en el gen col2a1","Spanish_Description_Source__c":"ORPHA:93279","Spanish_Description__c":"La displasia espondiloepifiseal leve con osteoartritis de inicio temprano por mutaciones en el gen COL2A1 es un trastorno óseo relacionado con el colágeno tipo 2 caracterizado por osteoartritis precoz generalizada (con inicio tan temprano como la infancia) y leves cambios displásicos espinales (aplanamiento de vértebras, placas terminales irregulares y deformidades en forma de cuña) que resultan en un tronco ligeramente acortado.","Spanish_Disease_Name__c":"osteoartritis de inicio precoz con displasia espondiloepifisaria leve por una mutación en el gen col2a1","Spanish_GARD_Synonym__c":null,"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":"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.","Curated_Disease_Description_Source__c":"MONDO:0011496","GARD_Synonym__c":"mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis; oscdp","Name":"Namaqualand hip dysplasia","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":"Adult","Provided_By__c":"ORPHA:93279"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93279"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:93279"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254064009","Source__c":"C0432214; MONDO:0011496","Xref__c":"254064009"},{"URL__c":"https://www.omim.org/entry/604864","Source__c":"C0432214; MONDO:0011496; ORPHA:93279","Xref__c":"OMIM:604864"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565740","Source__c":"MONDO:0011496","Xref__c":"C565740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=609409","Source__c":"C0432214","Xref__c":"MEDGEN:609409"},{"URL__c":"https://www.orpha.net/en/disease/detail/93279","Source__c":"C0432214; MONDO:0011496","Xref__c":"ORPHA:93279"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432214","Source__c":"C0432214","Xref__c":"C0432214"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011496","Source__c":"GARD:0016812","Xref__c":"MONDO:0011496"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202115","Source__c":"C0432214","Xref__c":"C202115"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL2A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col2a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005086","HPO_Name__c":"Knee osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012313","HPO_Synonym__c":"Heberden's node","HPO_Name__c":"Heberden node","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","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"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","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:604864","Feature__r":{"HPO_Description__c":"A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030041","HPO_Synonym__c":"Schmorl's nodes","HPO_Name__c":"Schmorl's node","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004568","HPO_Synonym__c":"anterior beaking; Anterior beaking of vertebrae; Anterior beaking of vertebral bodies; Beaked vertebral bodies; Vertebral tongue-like protrusion","HPO_Name__c":"Beaking of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604864","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis"," oscdp"]}