{"Name":"Proteasome-associated autoinflammatory syndrome 1","DiseaseID__c":"GARD:0003916","id":3916,"encodedName":"proteasome-associated-autoinflammatory-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Proteasome-associated autoinflammatory syndrome 1","Xref_IDs__c":"C176619; C4746851; MEDGEN:1648310; MONDO:0054698; OMIM:256040","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:256040","Disease_Description__c":"This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by {1:Agarwal et al., 2010}; {6:Kitamura et al., 2011}; {2:Arima et al., 2011}).\\n\\nThis disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both {9:Nakajo (1939)} and {10:Nishimura et al. (1950)} contributed to the original phenotypic descriptions.\\n\\n<Subhead> Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome\\n\\nSee also PRAAS2 ({618048}), caused by mutation in the POMP gene ({613386}) on chromosome 13q12; PRAAS3 ({617591}), caused by mutation in the PSMB4 gene ({602177}) on chromosome 1q21; PRAAS4 ({619183}), caused by mutation in the PSMG2 gene ({609702}) on chromosome 18p11; and PRAAS5 ({619175}), caused by mutation in the PSMB10 gene ({176847}) on chromosome 16q22.","GARD_Name__c":"Proteasome-associated autoinflammatory syndrome 1","GARD_Synonym__c":"praas1; proteasome-associated autoinflammatory syndrome 1 and digenic forms","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Proteasome-associated autoinflammatory syndrome 1 is a rare genetic disorder that causes inflammation throughout the body. It is inherited from both parents (autosomal recessive inheritance) and usually appears in early childhood. Symptoms include red, ring-shaped rashes on the face and limbs, abnormal distribution of fat, and problems with the immune system. Other symptoms may include fever, joint stiffness, muscle weakness, enlarged liver and spleen, and anemia. This disorder is also known as Nakajo-Nishimura syndrome, JMP syndrome, or CANDLE syndrome. It is caused by changes in the PSMB8 gene and sometime this gene and either PSMA3 or PSMB4.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:256040","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0054698","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":"Proteasome-associated autoinflammatory syndrome 1 is a rare genetic disorder that causes inflammation throughout the body. It is inherited from both parents (autosomal recessive inheritance) and usually appears in early childhood. Symptoms include red, ring-shaped rashes on the face and limbs, abnormal distribution of fat, and problems with the immune system. Other symptoms may include fever, joint stiffness, muscle weakness, enlarged liver and spleen, and anemia. This disorder is also known as Nakajo-Nishimura syndrome, JMP syndrome, or CANDLE syndrome. It is caused by changes in the PSMB8 gene and sometime this gene and either PSMA3 or PSMB4.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"praas1; proteasome-associated autoinflammatory syndrome 1 and digenic forms","Name":"Proteasome-associated autoinflammatory syndrome 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003916","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176619","Source__c":"C4746851; MONDO:0054698","Xref__c":"C176619"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648310","Source__c":"C4746851","Xref__c":"MEDGEN:1648310"},{"URL__c":"https://www.omim.org/entry/256040","Source__c":"C4746851; MONDO:0054698","Xref__c":"OMIM:256040"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4746851","Source__c":"C4746851","Xref__c":"C4746851"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0054698","Source__c":"GARD:0003916","Xref__c":"MONDO:0054698"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSMB8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/psmb8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition affecting one or more structures of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002135","HPO_Synonym__c":"Basal ganglia calcifications; Basal ganglion calcification; Calcification of the basal ganglia","HPO_Name__c":"Basal ganglia calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation in the concentration of interferon gamma measured in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030356","HPO_Synonym__c":"Increased serum interferon-gamma level","HPO_Name__c":"Increased circulating interferon-gamma concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005328","HPO_Synonym__c":"Aged facial appearance; Premature aged appearance; Prematurely aged face; Prematurely aged facial appearance; Wizened face","HPO_Name__c":"Progeroid facial appearance","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002925","HPO_Synonym__c":"Elevated thyroid stimulating hormone; Elevated thyroid stimulating hormone levels; High TSH; Increased serum thyroid-stimulating hormone; Increased thyroid-stimulating hormone; Increased thyroid-stimulating hormone level; Increased thyrotropin level; Thyroid-stimulating hormone excess; TSH excess","HPO_Name__c":"Elevated circulating thyroid-stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Punctate opacification (reduced transparency) of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007856","HPO_Synonym__c":"Punctate corneal opacities","HPO_Name__c":"Punctate opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000179","HPO_Synonym__c":"Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip","HPO_Name__c":"Thick lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","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"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030783","HPO_Synonym__c":"Increased serum IL-6; Increased serum interleukin-6","HPO_Name__c":"Increased circulating interleukin 6 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008887","HPO_Synonym__c":"Loss of fat tissue","HPO_Name__c":"Adipose tissue loss","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Loss of normal subcutaneous fat tissue in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000292","HPO_Synonym__c":"Decreased amount of facial adipose tissue; Decreased amount of facial fat; Decreased volume of facial adipose tissue; Loss of facial fat; Loss of facial subcutaneous adipose tissue; Loss of subcutaneous adipose tissue from face","HPO_Name__c":"Loss of facial adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","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"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced number or density of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002215","HPO_Synonym__c":"Limited armpit hair; Little underarm hair; sparse to absent axillary hair","HPO_Name__c":"Sparse axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the parotid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011850","HPO_Name__c":"Parotitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement of the soft tissues of one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025131","HPO_Synonym__c":"Swelling of fingers; Swollen finger; Swollen fingers","HPO_Name__c":"Finger swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of interleukin-8 in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033178","HPO_Synonym__c":"Increased serum IL-8; Increased serum interleukin 8; Increased serum interleukin-8","HPO_Name__c":"Increased circulating interleukin 8 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A recurrent form of sinusitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011108","HPO_Synonym__c":"Recurrent sinus infections; Sinusitis, recurrent","HPO_Name__c":"Recurrent sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100807","HPO_Synonym__c":"Long fingers","HPO_Name__c":"Long fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012219","HPO_Name__c":"Erythema nodosum","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Inflammation of subcutaneous adipose tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012490","HPO_Synonym__c":"Inflammation of adipose tissue; Inflammation of fat tissue","HPO_Name__c":"Panniculitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdeveloped scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000882","HPO_Synonym__c":"Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade","HPO_Name__c":"Hypoplastic scapulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012785","HPO_Synonym__c":"Flexion deformity of finger","HPO_Name__c":"Flexion contracture of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"One or more bent (flexed) toe joints that cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005830","HPO_Synonym__c":"Contractures involving the toes; Contractures of the toes; Toe contractures","HPO_Name__c":"Flexion contracture of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012450","HPO_Synonym__c":"Chronic constipation; Infrequent bowel movements","HPO_Name__c":"Chronic constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin G in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003237","HPO_Synonym__c":"Increased circulating IgG level; Increased IgG level; Increased levels of IgG; Increased total IgG in blood","HPO_Name__c":"Increased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100534","HPO_Synonym__c":"Inflammation of the thin layer on top of the white part of eye","HPO_Name__c":"Episcleritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin A in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003261","HPO_Synonym__c":"Elevated IgA; Elevated serum IgA; IgA hypergammaglobulinemia; Increased circulating IgA level; Increased levels of IgA; Increased serum IgA","HPO_Name__c":"Increased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040270","HPO_Synonym__c":"Decreased glucose tolerance; Glucose tolerance decreased","HPO_Name__c":"Impaired glucose tolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the epididymis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000031","HPO_Name__c":"Epididymitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001935","HPO_Name__c":"Microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"An induration (hardening) of the skin","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030053","HPO_Synonym__c":"Indurated skin; Skin induration; Stiff skin","HPO_Name__c":"Stiff skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256040","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["praas1"," proteasome-associated autoinflammatory syndrome 1 and digenic forms"]}