{"Name":"Familial partial lipodystrophy, Dunnigan type","DiseaseID__c":"GARD:0003126","id":3126,"encodedName":"familial-partial-lipodystrophy-dunnigan-type","IsDeleted":false,"Disease_Name_Full__c":"Familial partial lipodystrophy, Dunnigan type","Xref_IDs__c":"715439000; C165527; C1720860; DOID:0070202; MEDGEN:354526; MONDO:0007906; OMIM:151660; ORPHA:2348","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007906","Disease_Description__c":"A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.","GARD_Name__c":"Familial partial lipodystrophy, Dunnigan type","GARD_Synonym__c":"dunnigan syndrome; familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy dunnigan type; familial partial lipodystrophy type 2; fpld2; lipodystrophy, familial, of limbs and lower trunk; lipodystrophy, reverse partial; partial lipodystrophy, dunnigan; reverse partial lipodystrophy","Curated_Disease_Description_Source__c":"GARD:0003126","Curated_Disease_Description__c":"Familial partial lipodystrophy, Dunnigan type (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities. Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease. FPLD2 is caused by genetic changes in the LMNA gene and inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2348","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007906","ORPHANET_ID__c":"ORPHA:2348","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lipodistrofia parcial familiar tipo dunnigan","Spanish_Description_Source__c":"ORPHA:2348","Spanish_Description__c":"Es una lipodistrofia genética poco frecuente caracterizada por una pérdida de tejido adiposo subcutáneo en el tronco, las nalgas y las extremidades; un acúmulo de grasa en el cuello, la cara, las regiones axilar y pélvica; hipertrofia muscular; y, generalmente, asociada a alteraciones metabólicas como insulinorresistencia, diabetes mellitus, dislipidemia y esteatosis hepática.","Spanish_Disease_Name__c":"lipodistrofia parcial familiar tipo dunnigan","Spanish_GARD_Synonym__c":"fpld2; lipodistrofia parcial familiar tipo 2; síndrome de dunnigan","Category_Linearization__c":"ORPHA:97978","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":"Familial partial lipodystrophy, Dunnigan type (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities. Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease. FPLD2 is caused by genetic changes in the LMNA gene and inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"GARD:0003126","GARD_Synonym__c":"dunnigan syndrome; familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy dunnigan type; familial partial lipodystrophy type 2; fpld2; lipodystrophy, familial, of limbs and lower trunk; lipodystrophy, reverse partial; partial lipodystrophy, dunnigan; reverse partial lipodystrophy","Name":"Familial partial lipodystrophy, Dunnigan type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lipodystrophy United","Website__c":"https://www.lipodystrophyunited.org"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2348"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2348"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2348"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2348"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1720860"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003126","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=354526","Source__c":"C1720860","Xref__c":"MEDGEN:354526"},{"URL__c":"https://www.orpha.net/en/disease/detail/2348","Source__c":"C1720860; MONDO:0007906; ORPHA:2348","Xref__c":"ORPHA:2348"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1720860","Source__c":"C1720860","Xref__c":"C1720860"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070202","Source__c":"MONDO:0007906","Xref__c":"DOID:0070202"},{"URL__c":"https://www.omim.org/entry/151660","Source__c":"C1720860; MONDO:0007906; ORPHA:2348","Xref__c":"OMIM:151660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715439000","Source__c":"C1720860; MONDO:0007906","Xref__c":"715439000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007906","Source__c":"GARD:0003126","Xref__c":"MONDO:0007906"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C165527","Source__c":"C1720860","Xref__c":"C165527"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain during menstruation that interferes with daily activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100607","HPO_Synonym__c":"Painful menstruation","HPO_Name__c":"Dysmenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","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; 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Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the size of the skeletal muscle cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012084","HPO_Name__c":"Abnormality of skeletal muscle fiber size","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; 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Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006288","HPO_Synonym__c":"Advanced dental eruption; Advanced tooth eruption; Early dental eruption; Early eruption of teeth; Eruption, advanced; Premature dental eruption; Premature eruption of teeth; Premature tooth eruption","HPO_Name__c":"Advanced eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000991","HPO_Synonym__c":"Xanthomata; Yellow bumps of fatty deposits on skin","HPO_Name__c":"Xanthomatosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003635","HPO_Synonym__c":"Loss of fat tissue below the skin in limbs; Loss of subcutaneous adipose tissue from extremities","HPO_Name__c":"Loss of subcutaneous adipose tissue in limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000869","HPO_Synonym__c":"Previous menstrual periods stop","HPO_Name__c":"Secondary amenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100820","HPO_Synonym__c":"Diseased glomeruli","HPO_Name__c":"Glomerulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001677","HPO_Synonym__c":"Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart","HPO_Name__c":"Coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the complement system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005339","HPO_Name__c":"Abnormality of complement system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2348","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dunnigan syndrome"," familial lipodystrophy of limbs and lower trunk"," familial partial lipodystrophy dunnigan type"," familial partial lipodystrophy type 2"," fpld2"," lipodystrophy, familial, of limbs and lower trunk"," lipodystrophy, reverse partial"," partial lipodystrophy, dunnigan"," reverse partial lipodystrophy"]}