Autoimmunity, and Ascites

Diseases related with Autoimmunity and Ascites

In the following list you will find some of the most common rare diseases related to Autoimmunity and Ascites that can help you solving undiagnosed cases.


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Low match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Low match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

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Other less relevant matches:

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY


SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY Is also known as scid due to lck deficiency|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|scid due to lymphocyte-specific protein tyrosine kinase deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LCK DEFICIENCY

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Ascites

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Jaundice Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the liver Fatigue Pain Hepatosplenomegaly Anemia Diarrhea Elevated hepatic transaminase Cirrhosis Pruritus Myalgia Pericardial effusion Renal insufficiency Abdominal pain Hepatitis Scarring Antinuclear antibody positivity Acute hepatic failure Cholelithiasis Hepatic fibrosis Weight loss Vasculitis Encephalopathy Hypertension Seizures Pericarditis Proteinuria Arthritis Skin rash Cholestasis Elevated alkaline phosphatase Esophageal varix Portal hypertension Decreased antibody level in blood Pleural effusion Elevated erythrocyte sedimentation rate Uveitis Pancreatitis Immunodeficiency Lymphoma

Rare Symptoms - Less than 30% cases


Irregular hyperpigmentation Respiratory insufficiency Respiratory tract infection Hemolytic anemia Pneumonia Cough Thrombocytopenia Arthralgia Dyspnea Asthma Impaired T cell function Peripheral neuropathy Gastroesophageal reflux Keratoconjunctivitis sicca Hemophagocytosis Lymphoproliferative disorder Lymphopenia Hepatic encephalopathy Combined immunodeficiency Gastrointestinal hemorrhage Pancytopenia Sensorineural hearing impairment Ataxia Xerostomia Nephrocalcinosis Congestive heart failure Depressivity Recurrent respiratory infections Failure to thrive Inflammation of the large intestine Abnormality of the kidney Abdominal distention Stage 5 chronic kidney disease Hyperkalemia Hyperpigmentation of the skin Celiac disease Hyperbilirubinemia Hypoalbuminemia Nausea and vomiting Constipation Pallor Histiocytosis Abnormality of the thyroid gland Respiratory failure Amyloidosis Increased serum ferritin Biliary cirrhosis Sleep disturbance Meningitis Hepatic failure Cholangitis Emphysema Malabsorption Nephritis Palmar telangiectasia Nausea Glomerulopathy Chronic hepatic failure Nephropathy Osteoporosis Hepatocellular carcinoma Cholestatic liver disease Chronic otitis media Polydipsia Lipodystrophy Obsessive-compulsive behavior Glucose intolerance Aplasia/Hypoplasia of the cerebellum Polyphagia Autoimmune thrombocytopenia Thoracic scoliosis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Chorioretinal atrophy Constriction of peripheral visual field Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Polyuria Diabetes insipidus Hyperglycemia Hyperostosis Acne Impaired vibratory sensation Hyperinsulinemia Neoplasm Precocious puberty Urinary incontinence Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Optic disc pallor Pigmentary retinopathy Cyanosis Specific learning disability Progressive visual loss Decreased testicular size Otitis media Growth hormone deficiency Round face Vesicoureteral reflux Hypertriglyceridemia Hepatic steatosis Retinal dystrophy Hirsutism Tachycardia Retinal degeneration Dry skin Infertility Delayed puberty Carious teeth Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Pulmonary arterial hypertension Recurrent otitis media Abnormality of the hand Increased body weight Polycystic ovaries Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Hypogonadotrophic hypogonadism Generalized hirsutism Horizontal nystagmus Involuntary movements Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Severe sensorineural hearing impairment Decreased HDL cholesterol concentration Hypoventilation Urethral stricture Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Abnormal chorioretinal morphology ST segment depression Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Facial hirsutism Multifocal atrial tachycardia Frontal balding Unilateral breast hypoplasia Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Dilatation of the bladder Childhood-onset truncal obesity Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Hematemesis Increased total bilirubin Insulin-resistant diabetes mellitus Tubulointerstitial nephritis Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Pendular nystagmus Restrictive cardiomyopathy Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Chronic obstructive pulmonary disease High-frequency hearing impairment Vertical nystagmus Arteriosclerosis Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Elevated C-reactive protein level Ovarian cyst Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Dilated cardiomyopathy Generalized tonic-clonic seizures Neoplasm of the gallbladder Nyctalopia Osteomalacia Gastrointestinal inflammation Onychomycosis Increased IgA level Recurrent fungal infections Fat malabsorption Conjugated hyperbilirubinemia Allergy Excessive daytime somnolence Abnormality of lipid metabolism Orthostatic hypotension Dermatographic urticaria Confusion Generalized abnormality of skin Calcinosis cutis Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Lichenification Calcinosis Raynaud phenomenon Increased IgM level Abnormality of the intrahepatic bile duct Telangiectasia of the skin Hemoptysis Arrhythmia Headache Small vessel vasculitis Obstructive lung disease Episcleritis Immunologic hypersensitivity Complement deficiency Angioedema Inflammatory abnormality of the eye Abnormal heart valve morphology Hematuria Restrictive ventilatory defect Hemiplegia/hemiparesis Urticaria Reduced tendon reflexes Cerebral palsy Cranial nerve paralysis Joint dislocation Conjunctivitis Recurrent bacterial infections Sensory neuropathy Scleroderma Steatorrhea Erythema Generalized lymphadenopathy Spherocytosis Generalized edema Reticulocytosis Thromboembolism Limb-girdle muscular dystrophy Dehydration Muscular dystrophy Edema Dysgammaglobulinemia Granulomatosis Gastritis Recurrent aphthous stomatitis Stomatitis Immune dysregulation Pulmonary infiltrates IgG deficiency Hodgkin lymphoma Autoimmune hemolytic anemia Recurrent infections T-cell lymphoma Aplastic anemia Elliptocytosis Intermittent jaundice Encephalitis Increased red cell hemolysis by shear stress Skin ulcer Telangiectasia Dysphagia Capillary leak Retinal vasculitis Panniculitis Protracted diarrhea Decreased proportion of CD4-positive T cells Severe combined immunodeficiency Exercise-induced hemolysis Stomatocytosis Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Chronic hemolytic anemia Antiphospholipid antibody positivity Hemoglobinuria Acidosis Chest pain Retinopathy Optic atrophy Kyphosis Dystonia Behavioral abnormality Abnormality of the dentition Vomiting Blindness Cardiomyopathy Respiratory distress Short neck Motor delay Obesity Visual impairment Delayed speech and language development Feeding difficulties Cognitive impairment Cataract Strabismus Nystagmus Growth delay Scoliosis Hearing impairment Dilatation Clinodactyly Global developmental delay Hypothyroidism Sparse hair Autistic behavior Postnatal growth retardation Irritability Conductive hearing impairment Deeply set eye Photophobia Pes planus Kyphoscoliosis Autism Visual loss Hyperkeratosis Polydactyly Diabetes mellitus Hypogonadism Hyperhidrosis Myoclonus Rod-cone dystrophy Alopecia Hyporeflexia Patent ductus arteriosus Short stature Intellectual disability Nephrotic syndrome Oral leukoplakia Gastrointestinal infarctions Erysipelas Congenital hypoplastic anemia Pleuritis Stiff neck Synovitis Decreased circulating aldosterone level Peritonitis Anemia of inadequate production Edema of the lower limbs Azotemia Gout Episodic fever Leukocytosis Intestinal obstruction Rheumatoid arthritis Systemic lupus erythematosus Chronic kidney disease Purpura Osteoarthritis Myocardial infarction Renal amyloidosis Serositis Adenocarcinoma of the large intestine Cholangiocarcinoma Dilated superficial abdominal veins Recurrent systemic pyogenic infections Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Abnormal biliary tract morphology Vitamin K deficiency Vitamin A deficiency Vitamin E deficiency Recurrent meningitis Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Prolonged prothrombin time Ulcerative colitis Thyroiditis Generalized amyotrophy Type I diabetes mellitus Osteopenia Orchitis Abnormality of the femoral head



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