Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Intraute... |
OMIM:616570 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Depression, Type... |
OMIM:614296 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance, Optic atrophy |
OMIM:311100 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribose in urine, Increased level of ribitol in urine, Increased level of xylit... |
OMIM:608611 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly |
ORPHA:291 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph... |
OMIM:613885 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ... |
OMIM:164180 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Abnormality of the upper urinary tract, Optic at... |
ORPHA:411590 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Hematuria, Microangiopathic hemolyt... |
ORPHA:54057 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Polycystic ... |
ORPHA:90301 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filtration rate, Splenomegaly, Hype... |
OMIM:232220 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating cr... |
OMIM:617872 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Optic atrophy, Leukopenia, Chorioretin... |
OMIM:617303 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
OMIM:603552 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Mental deterioration, Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Prog... |
ORPHA:251004 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated ... |
OMIM:608836 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232200 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Polyhydramnios, Anencephaly, Microphthalmia, Agenesis of ... |
ORPHA:2189 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Lymphadeno... |
ORPHA:168569 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnorm... |
OMIM:598500 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... |
ORPHA:543 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Hypernatriuria, Hyposthenuria, Decreased... |
OMIM:300539 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Atretic vas deferens, Hypospadias, Abnormality of the kidney, El... |
OMIM:137920 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcephaly, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of co... |
ORPHA:139471 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L... |
OMIM:607115 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Microcephaly |
OMIM:147250 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneratio... |
OMIM:256730 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Trisomy 13 |
|
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... |
ORPHA:3378 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis... |
ORPHA:899 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy |
OMIM:610951 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Lymphadenopath... |
ORPHA:858 |
3-Methylglutaconic Aciduria, Type Iii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy, Cognitive impairment |
OMIM:258501 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment |
ORPHA:2246 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Dementia,... |
OMIM:204200 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination, Elevated circulating creatinine concentration, Abnormal renal corticome... |
OMIM:616733 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal... |
ORPHA:464329 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Trisomy 1Q |
|
Anophthalmia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Cerebellar hypoplas... |
ORPHA:261344 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Dementia, Optic atrophy |
OMIM:182830 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hypoglycemia, Hyperlipidemi... |
ORPHA:79259 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Irritability, Hematuria, Thrombocytopenia |
ORPHA:69077 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:97290 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Optic disc coloboma... |
ORPHA:2260 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Neuroendocrine neoplasm, Chronic noninfectious lymphaden... |
ORPHA:100083 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,... |
ORPHA:79312 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... |
ORPHA:505248 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat... |
OMIM:619644 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... |
ORPHA:508 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Confusion, Hemolytic-uremic syndrome, Schistocytosis, Elevated circ... |
OMIM:274150 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalon... |
ORPHA:26792 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul... |
ORPHA:79237 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Aregenerative Anemia |
|
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:101096 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Proteinuria, Progressive neurologic deterioration, A... |
ORPHA:247691 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone... |
OMIM:154230 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Sarcosinemia |
|
Hypersarcosinuria, Emotional lability, Hypersarcosinemia, Optic atrophy |
ORPHA:3129 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Tularemia |
|
Brain abscess, Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, M... |
ORPHA:3392 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... |
ORPHA:791 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammonemia, Renal tubular... |
ORPHA:289916 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast... |
OMIM:249270 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi... |
OMIM:130650 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... |
OMIM:614376 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Irritability, Abnormal periph... |
ORPHA:457205 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut... |
ORPHA:79477 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cinca Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormality of neutrophils, ... |
ORPHA:1451 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hypoglycemia, Progressive neurologic deterioration, Optic atrophy, Hyperammonemia, I... |
OMIM:618253 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat... |
OMIM:300438 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... |
ORPHA:319487 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Cach Syndrome |
|
Progressive neurologic deterioration, Optic atrophy, Nonketotic hyperglycinemia, Renal hypoplasia... |
ORPHA:135 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Emotional lability |
ORPHA:98890 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... |
ORPHA:276280 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentr... |
ORPHA:116 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... |
OMIM:618495 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... |
ORPHA:731 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation |
ORPHA:3412 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Microcephaly, Postnatal... |
OMIM:206900 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Irritabil... |
OMIM:257200 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-po... |
OMIM:304790 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Eleva... |
ORPHA:230 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
3-Methylglutaconic Aciduria, Type I |
|
Short attention span, Urinary incontinence, Optic atrophy, Dementia, 3-Methylglutaconic aciduria,... |
OMIM:250950 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia |
OMIM:200995 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Optic atrophy, Renal steatosis, Fas... |
OMIM:261680 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ... |
ORPHA:2035 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Cln3 Disease |
|
Left ventricular hypertrophy, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Depr... |
ORPHA:228346 |
Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammon... |
ORPHA:27 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno... |
ORPHA:29073 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... |
ORPHA:276 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... |
OMIM:603553 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... |
ORPHA:99812 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Roifman Syndrome |
|
Retinal dystrophy, Eosinophilia, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia, Macrocephaly |
OMIM:615877 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postnatal grow... |
OMIM:605627 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Roifman Syndrome |
|
Hepatomegaly, Retinal dystrophy, Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Edema, Lymphedema, Microcephaly, Chylothorax, Microphthalmia,... |
ORPHA:2526 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia |
OMIM:614739 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
ORPHA:824 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbumine... |
OMIM:608104 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, O... |
OMIM:222300 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:564 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentrat... |
OMIM:610377 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:98850 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... |
ORPHA:90060 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:160 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... |
OMIM:601186 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia, Fused labia minora, Optic atrophy, Elevated urinary 5-amino-4-imidazo... |
OMIM:608688 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Hyperalaninemia |
OMIM:614702 |
Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Hypoglycemia, Neph... |
OMIM:616026 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Bicornuate uterus, Hy... |
ORPHA:79328 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... |
ORPHA:2686 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti... |
ORPHA:500095 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ... |
OMIM:618885 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa... |
OMIM:260920 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... |
OMIM:146255 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Hy... |
ORPHA:97289 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T... |
ORPHA:540 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Ovarian neoplasm... |
ORPHA:83469 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... |
OMIM:619750 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c... |
OMIM:223900 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Spinal dysr... |
ORPHA:2162 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Leukopenia, Nephrotic s... |
ORPHA:93552 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Pate... |
OMIM:618280 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Ogden Syndrome |
|
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydrocele testis, Irr... |
OMIM:300855 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Basal ganglia calcification, Anophthalmia |
ORPHA:90321 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Hy... |
OMIM:617053 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Decreased nerve... |
OMIM:214500 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Confusion, Elevated circulating creatine... |
ORPHA:36234 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Delirium, Retinal dege... |
ORPHA:79282 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Pa... |
OMIM:610829 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Confusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute kidney injury... |
ORPHA:542323 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Dementia, Hypo... |
ORPHA:1173 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Proteinu... |
OMIM:619487 |
Opticocochleodentate Degeneration |
|
Mental deterioration, Optic atrophy |
OMIM:258700 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Renal insufficiency, Hypoglycemia, Elevated circulating creatine ki... |
ORPHA:99826 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, Lymphadenopathy... |
ORPHA:47612 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Confusion, Depression, Hepatosplenomegaly, Oligosacchariduria |
ORPHA:309288 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Oligosacchariduria, Facial palsy, Lymphadenopathy |
ORPHA:2483 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Abnormality of the lymphatic system, O... |
ORPHA:538 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Lymphadenopathy |
ORPHA:654 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Facial palsy, Cryptorchidism, Enuresis nocturna, Irritability... |
OMIM:615873 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
Cerebral Visual Impairment |
|
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... |
ORPHA:447788 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Abnormal retina... |
ORPHA:33226 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... |
ORPHA:100093 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Lymph... |
ORPHA:167 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Cryptorchidism, Abnormal optic disc morphology, Shawl scrotum,... |
OMIM:617516 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... |
ORPHA:520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Stage 5 chronic kidney... |
OMIM:268315 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia |
ORPHA:1101 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Charge Syndrome |
|
Anophthalmia, Short stature, Polyhydramnios, Microcephaly, Postnatal growth retardation, Delayed ... |
ORPHA:138 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le... |
OMIM:615895 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Optic atrophy, Hypochromic microcytic anemia, Peri... |
ORPHA:66634 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Growth delay, Microphthalmia,... |
ORPHA:2538 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone ma... |
ORPHA:549 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Short stature |
ORPHA:264200 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndr... |
ORPHA:139402 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Confusion, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidne... |
ORPHA:340 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Lymphadenopathy, Hypogonadism, Thrombocytosis, Polycythemia, Visc... |
ORPHA:2905 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Mucopolysaccharid... |
ORPHA:585 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lym... |
OMIM:300755 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoa... |
OMIM:617913 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... |
ORPHA:436271 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Hypocalc... |
OMIM:259700 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Spleno... |
OMIM:259720 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Lymphadenopathy, He... |
ORPHA:36412 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr... |
ORPHA:79124 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Optic atrophy, Depression |
OMIM:604928 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Aganglionic megacolon, Lymphadenopathy |
ORPHA:3386 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Insulin-resistant diabetes mell... |
ORPHA:293967 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,... |
OMIM:617591 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Absent septum pellucidum, Microcephaly, Growth delay, Microph... |
ORPHA:2556 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ... |
ORPHA:98813 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Abnormal retinal morphology |
ORPHA:33276 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Tangier Disease |
|
Orange discolored tonsils, Peripheral axonal neuropathy, Hypertriglyceridemia, Chronic noninfecti... |
ORPHA:31150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... |
OMIM:220110 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... |
ORPHA:847 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cervical lymphadenopath... |
OMIM:602782 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Neonatal hyp... |
OMIM:619418 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph... |
OMIM:618329 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Optic atrophy, Male hypogonadism,... |
ORPHA:3463 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Bilatera... |
OMIM:219000 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,... |
ORPHA:991 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Microcephaly, Umbilical hernia, Hypoplasia of the corpus callosum, M... |
OMIM:300166 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Abnormal retinal morphology, Abscess, Eosinophili... |
ORPHA:228123 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Lymphadenopathy, Leukopenia, ... |
ORPHA:536 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Cryptorchidism, Renal cyst, Duplication of renal pelvis,... |
OMIM:312870 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly, Irritability, Hemophagocytosis, Hyperbilirubinemia |
ORPHA:39812 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Optic atrophy, Depression, Dementia, Type II diabetes mellitus, Memory impairment |
OMIM:604121 |
Cutaneous Mastocytoma |
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Lymphadenopathy |
ORPHA:79455 |
Retinitis Pigmentosa 72 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Hyperoxaluria, Primary, Type I |
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Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... |
OMIM:259900 |
Autosomal Dominant Hypocalcemia |
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Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:428 |
Focal Dermal Hypoplasia |
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Anophthalmia, Short stature, Microcephaly, Myelomeningocele, Umbilical hernia, Aniridia, Micropht... |
OMIM:305600 |
Retinitis Pigmentosa 56 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Retinitis Pigmentosa 58 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Primary Fanconi Renotubular Syndrome |
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Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Biotinidase Deficiency |
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Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Organic aciduria |
OMIM:253260 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
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Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Cutaneous Neuroendocrine Carcinoma |
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Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Primary Hyperoxaluria |
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Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... |
ORPHA:416 |
Fraser Syndrome |
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Encephalocele, Anophthalmia, Microcephaly, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, Macrocephaly, Microphthalmia, Abnormal corpus callosum morp... |
ORPHA:141099 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Hypopla... |
OMIM:619321 |
Juvenile Glaucoma |
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Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Primary Sjögren Syndrome |
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Normocytic anemia, Renal insufficiency, Vaginal dryness, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Retinitis Pigmentosa 49 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Neoplasm of the ... |
ORPHA:99889 |
Medullary Thyroid Carcinoma |
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Pheochromocytoma, Lymphadenopathy |
ORPHA:1332 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Von Hippel-Lindau Disease |
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Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Familial Pancreatic Carcinoma |
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Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma, Peritoneal abscess |
ORPHA:1333 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia of the optic tract... |
OMIM:607932 |
Cockayne Syndrome Type 3 |
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Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Hepatomegaly... |
ORPHA:90324 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Malakoplakia |
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Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... |
ORPHA:556 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Charge Syndrome |
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Anophthalmia, Polyhydramnios, Microcephaly, Postnatal growth retardation, Unilateral microphthalm... |
OMIM:214800 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration, Confusion, Oliguria |
ORPHA:97292 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Retinitis Pigmentosa 43 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Cherubism |
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Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Branchiooculofacial Syndrome |
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Agenesis of cerebellar vermis, Anophthalmia, Microcephaly, Postnatal growth retardation, Branchia... |
OMIM:113620 |
Sarcoidosis |
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Hemolytic anemia, Hepatomegaly, Renal insufficiency, Hypercalcemia, Facial palsy, Eosinophilia, A... |
ORPHA:797 |
Thyroid Lymphoma |
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Lymphadenopathy |
ORPHA:97285 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Lymphadenopathy |
ORPHA:411703 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Squamous Cell Carcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424019 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
Igg4-Related Ophthalmic Disease |
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Abnormal fifth cranial nerve morphology, Elevated circulating C-reactive protein concentration, A... |
ORPHA:449563 |
Arima Syndrome |
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Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis... |
OMIM:243910 |
Farber Disease |
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Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Macular degeneration, Cherry red spot of t... |
ORPHA:333 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro... |
ORPHA:331235 |
Behçet Disease |
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Glomerulopathy, Renal insufficiency, Confusion, Orchitis, Splenomegaly, Retrobulbar optic neuriti... |
ORPHA:117 |
Klatskin Tumor |
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Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Hyperlipidemia,... |
OMIM:232240 |
Anaplastic Thyroid Carcinoma |
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Lymphadenopathy |
ORPHA:142 |
Leptospirosis |
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Papilledema, Hepatomegaly, Cellular urinary casts, Retinal hemorrhage, Lymphadenopathy, Chorioret... |
ORPHA:509 |
Hennekam Syndrome |
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Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Hypo... |
ORPHA:2136 |
Carney Triad |
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Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Paraganglioma, Anemia |
ORPHA:139411 |
Bardet-Biedl Syndrome 20 |
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Papilledema, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Retinal vascular tortuosit... |
OMIM:619471 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
Peroxisome Biogenesis Disorder 1B |
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Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Rod-cone dystrophy |
OMIM:601539 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Facial palsy, Abnormal retinal vascular morphology, Splenomegaly... |
ORPHA:90340 |
Neuroendocrine Tumor Of The Colon |
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Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi... |
ORPHA:100080 |
Yellow Fever |
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Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le... |
ORPHA:99829 |
Pancreatoblastoma |
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Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Multiple Endocrine Neoplasia Type 2 |
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Multiple mucosal neuromas, Paraganglioma of head and neck, Cervical neoplasm, Aganglionic megacol... |
ORPHA:653 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Confusion, Elevated circulating creatine k... |
ORPHA:99827 |
Familial Mediterranean Fever |
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Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephr... |
ORPHA:342 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia |
OMIM:612301 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Short stature, True anophthalmia |
ORPHA:1106 |
Primary Hepatic Neuroendocrine Carcinoma |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... |
ORPHA:100085 |
Q Fever |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Hematuria, Gra... |
ORPHA:781 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Confusion, Thrombocytosis, Eosinophilia, Splenomegaly,... |
ORPHA:3260 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Eosinophilia, Lymphadenopathy, Prostatitis |
ORPHA:449432 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal cortical cysts, A... |
ORPHA:397715 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Lymp... |
ORPHA:32960 |
Neuroendocrine Tumor Of The Rectum |
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Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
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Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi... |
ORPHA:100082 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Optic nerve compress... |
ORPHA:667 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal renal morphology |
OMIM:616562 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Small intestine carcinoid, Hydronephrosis, Lymphadenopathy |
ORPHA:100078 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Leukocytosis, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Hepatomegaly |
OMIM:620233 |
Neuroendocrine Tumor Of Stomach |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Paraganglioma, Atypi... |
ORPHA:100075 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Increase... |
OMIM:615846 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Cryptorchidism, Ur... |
OMIM:305000 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove... |
ORPHA:71505 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal agenesis, Renal hypoplasia, Horseshoe ki... |
ORPHA:508498 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Abnormal optic disc morphology,... |
ORPHA:96121 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Incre... |
OMIM:619534 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy, Tubulointerstitial nephritis, Abnormal optic nerve morphology, Optic nerve compr... |
ORPHA:79078 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti... |
OMIM:181000 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Chikungunya |
|
Peripheral nerve compression, Cervical lymphadenopathy, Depression, Lymphadenopathy, Neuritis |
ORPHA:324625 |
Kawasaki Disease |
|
Proteinuria, Leukocytosis, Cervical lymphadenopathy, Sterile pyuria, Irritability |
ORPHA:2331 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia, Microcephaly |
OMIM:309800 |
Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... |
ORPHA:251909 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Branchial anomaly, Microphthalmia, Agenesis of corpus call... |
OMIM:164210 |
African Trypanosomiasis |
|
Papilledema, Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenom... |
ORPHA:3385 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr... |
ORPHA:64 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |