Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Autoimmunity, Abnormal muscle fiber morphology, Quadriceps muscle weakne... |
ORPHA:611 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Autoimmune antibody ... |
ORPHA:206569 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Myositis |
|
Myositis |
OMIM:160750 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid fa... |
OMIM:615934 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Flexion contracture, Panniculitis |
OMIM:619183 |
Focal Myositis |
|
Myositis |
ORPHA:48918 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Muscular edema, Myositis |
ORPHA:3165 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antinuclear antibo... |
ORPHA:93552 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... |
ORPHA:37042 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... |
ORPHA:99867 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Antisynthetase Syndrome |
|
Myositis, Skin rash, Autoimmunity, Myocarditis, Keratoconjunctivitis sicca |
ORPHA:81 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... |
ORPHA:39812 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia |
OMIM:300555 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... |
ORPHA:183 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Myocarditis, Arthritis, Keratoconjunc... |
ORPHA:809 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... |
ORPHA:99845 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus... |
ORPHA:444463 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Erectile dysfunction, Infectious encepha... |
ORPHA:3452 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia |
ORPHA:2611 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Arthritis |
ORPHA:93672 |
Autoimmune Hypoparathyroidism |
|
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... |
ORPHA:36913 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... |
ORPHA:157215 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:411593 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... |
ORPHA:258 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... |
ORPHA:32960 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia |
OMIM:277440 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Testicular teratoma |
ORPHA:764 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... |
OMIM:241530 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Anti-dsDNA antibody positivity... |
ORPHA:567544 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody posi... |
ORPHA:79078 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Brachydactylous Dwarfism, Mseleni Type |
|
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... |
ORPHA:2619 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Autoimmunity, Minimal change glomerulonephritis |
OMIM:617006 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Acquired Partial Lipodystrophy |
|
Myopathy, Autoimmunity |
ORPHA:79087 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Arthritis, Panniculitis |
ORPHA:51 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... |
ORPHA:100924 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thyroiditis, Sy... |
OMIM:619375 |
Hereditary Fructose Intolerance |
|
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, Polydipsia |
ORPHA:411629 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Acquired Ichthyosis |
|
Recurrent skin infections, Autoimmunity |
ORPHA:454 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Arthritis, ... |
ORPHA:229717 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment |
OMIM:612462 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Tetrasomy 9P |
|
Myositis, Pericarditis, Cryptorchidism, Oligozoospermia, Systemic lupus erythematosus, Arthritis,... |
ORPHA:3310 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... |
OMIM:615559 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis |
ORPHA:397596 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Interstitial pneumonitis, Autoimmunity, Aut... |
ORPHA:231154 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, J... |
ORPHA:275 |
Subcorneal Pustular Dermatosis |
|
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Systemic lupus erythematosus, Proximal amyotr... |
OMIM:159400 |
Cystinosis, Nephropathic |
|
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Re... |
OMIM:219800 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:249 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability |
ORPHA:428 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Autoimmunity, Perifascicular muscle fiber atrophy, Antin... |
ORPHA:206572 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneum... |
OMIM:618495 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... |
ORPHA:79444 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Autoimmunity |
ORPHA:220402 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... |
ORPHA:85410 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... |
ORPHA:534 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Hepatitis, Thyroiditis, N... |
ORPHA:228426 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... |
ORPHA:47 |
Pearson Syndrome |
|
Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... |
ORPHA:331235 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy |
OMIM:229600 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Confusion, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia... |
ORPHA:79443 |
Immunodeficiency 7 |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmunity, Chronic oral candidiasis |
OMIM:615387 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Autoimmunity |
ORPHA:375 |
Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Autoimmunity, Eczema |
OMIM:617780 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... |
ORPHA:572 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Autoimmunity, Pneumonia |
ORPHA:1303 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Increased inflammatory response, Cytoplasmic antineutrophil anti... |
ORPHA:449400 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, C3 nephritic factor positivity |
ORPHA:329918 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Stiff-Person Syndrome |
|
Proximal limb muscle stiffness, Autoimmunity, Asymmetric limb muscle stiffness, Axial muscle stif... |
OMIM:184850 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Recurrent pneumonia, Synovitis, Arthritis, R... |
ORPHA:47612 |
Myasthenia Gravis |
|
Limb muscle weakness, Autoimmunity, Facial palsy |
OMIM:254200 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... |
ORPHA:727 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity |
ORPHA:704 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Dermatitis Herpetiformis |
|
Autoimmunity, Eczema |
ORPHA:1656 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Myopathy, Autoimmunity, Pneumonia |
ORPHA:169090 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Impotence, Autoimmunity, Oligomenorrhea |
ORPHA:91354 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Autoimmunity, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Rec... |
ORPHA:98813 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid art... |
ORPHA:100026 |
Type 1 Diabetes Mellitus |
|
Autoimmunity |
OMIM:222100 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... |
ORPHA:227990 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... |
ORPHA:90060 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Unclassified Myelodysplastic Syndrome |
|
Autoimmunity |
ORPHA:98827 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Myopat... |
ORPHA:90289 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Inflammatory abnormality of the eye, Autoimmunity |
ORPHA:33577 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... |
ORPHA:227982 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Autoimmunity, Dyspareunia |
ORPHA:220393 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Autoimmunity, Hepatitis, Systemic lupus erythematosus, Juvenile ... |
ORPHA:158061 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity |
ORPHA:169079 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Autoimmune thrombocytopenia |
OMIM:614470 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Inflammatory abnormali... |
ORPHA:36412 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Polymyositis |
|
Arthritis, Pericarditis, Autoimmunity, Abnormal muscle fiber morphology |
ORPHA:732 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections, Autoimmunity |
ORPHA:36397 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Panniculitis, Autoimmunity |
OMIM:618398 |
Extracranial Carotid Artery Aneurysm |
|
Upper limb muscle weakness, Autoimmunity, Arteritis |
ORPHA:494424 |
Lymphoproliferative Syndrome 1 |
|
Stomatitis, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia |
OMIM:613011 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Omenn Syndrome |
|
Autoimmunity, Pneumonia, Thyroiditis, Erythroderma |
ORPHA:39041 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Rheu... |
ORPHA:3261 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Acute pancreatitis, Autoimmunity, Myopathy, Panniculitis |
ORPHA:79086 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis, Autoimmunity |
ORPHA:363558 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity |
ORPHA:293964 |
Isolated Osteopoikilosis |
|
Discoid lupus rash, Autoimmunity |
ORPHA:166119 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90033 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Thyroiditis, Sclerosing cholangitis, A... |
ORPHA:64744 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... |
ORPHA:542643 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Autoimmunity, Keratitis, Anti-thyroid peroxidase antibody positivity, Neutropenia i... |
ORPHA:525731 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Atopic dermatitis |
ORPHA:2902 |
Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation |
ORPHA:340 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
Autoimmune Polyendocrinopathy Type 1 |
|
Autoimmunity, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Autoimmunity, Peritonitis, Systemic lupus erythematosus, Limb muscle we... |
ORPHA:1546 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Autoimmunity, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral ca... |
ORPHA:83471 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:760 |
Immunodeficiency 22 |
|
Pericarditis, Panniculitis, Autoimmunity, Chronic oral candidiasis |
OMIM:615758 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Autoimmunity, Hashimoto thyroiditis, Camptodactyly |
OMIM:613385 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Autoimmune hemolytic anemia, Skin rash, Autoimmunity |
ORPHA:331206 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Enterocolitis, Interface hepa... |
OMIM:243150 |
Intrahepatic Cholestasis Of Pregnancy |
|
Autoimmunity, Skin rash, Cholecystitis |
ORPHA:69665 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Cold Agglutinin Disease |
|
Autoimmunity |
ORPHA:56425 |
Immunodeficiency 36 With Lymphoproliferation |
|
Autoimmunity, Bronchiectasis |
OMIM:616005 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Autoimmunity |
ORPHA:83600 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... |
ORPHA:93284 |
Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Myocarditis, Autoimmunity |
ORPHA:563 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Autoimmunity |
ORPHA:449291 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Periodontitis, Autoimmunity |
OMIM:130080 |
Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Autoimmunity, Hashimoto thyroiditis, Premature ovarian insufficiency |
ORPHA:199299 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Autoimmunity, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflam... |
ORPHA:906 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Inflammatory a... |
ORPHA:900 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Autoimmunity, Pneumonia, Antinuclear antibody positivity, Osteoarthritis, Systemic lup... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Antinuclear antibody positivity, Autoimmunity, Hepatitis, Gastrointestinal inflammation |
ORPHA:186 |
Familial Glucocorticoid Deficiency |
|
Autoimmunity, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neoplasia |
ORPHA:361 |
Acute Transverse Myelitis |
|
Autoimmunity, Systemic lupus erythematosus, Upper limb muscle weakness, Abnormal libido, Distal l... |
ORPHA:139417 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hashimoto thyroiditis |
ORPHA:436252 |
Primary Sclerosing Cholangitis |
|
Autoimmunity, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Generalized amyotrophy, Pancre... |
ORPHA:171 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Inflammation of the large inte... |
ORPHA:70591 |
Dermatomyositis |
|
Pericarditis, Autoimmunity, Myocarditis, Inflammatory myopathy, Arthritis |
ORPHA:221 |
Angioedema, Hereditary, 1 |
|
Autoimmunity |
OMIM:106100 |
Addison Disease |
|
Primary testicular failure, Premature ovarian insufficiency, Autoimmunity, Decreased female libid... |
ORPHA:85138 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Prostatitis, Cholangitis |
ORPHA:449432 |