Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Enlarged kidney, Hepatomegaly |
OMIM:615285 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior |
ORPHA:208441 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin... |
ORPHA:52368 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Irritability, Exaggerated startle response, Optic... |
OMIM:616881 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... |
OMIM:617303 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:97290 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Neur... |
ORPHA:206443 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal lymphatic vessel ... |
ORPHA:464329 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy |
ORPHA:100024 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c... |
ORPHA:66661 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Posteriorly rotated ear... |
OMIM:608836 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Low-set ears, Cystic renal dysplasia, En... |
OMIM:608022 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Polyphagia, Enlarge... |
ORPHA:251004 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Generalized lymphadenopathy, Follicular hyperpl... |
OMIM:615559 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
H Syndrome |
|
Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Enlarged kidney, Hear... |
ORPHA:168569 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Rhabdoid Tumor |
|
Hematuria, Irritability, Renal neoplasm, Lymphadenopathy |
ORPHA:69077 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho... |
ORPHA:319487 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Abnormal pinna morphology, Low-set ears, Polysplenia, Cystic renal dysplasia, Enlar... |
OMIM:200995 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... |
ORPHA:99027 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl... |
OMIM:232220 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Depression |
OMIM:620114 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hearing impairment, Lymphadenopathy |
ORPHA:858 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Lymphadenitis, Renal interstitial immunoglobulin deposits, Chro... |
ORPHA:449395 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irritability, Athetosis |
OMIM:257200 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ureteral... |
ORPHA:79328 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Microtia, Enlarged kidney |
ORPHA:276280 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Oliguria, S... |
ORPHA:731 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Optic atrophy, Hepatosplenomegaly, Nephrotic syn... |
ORPHA:505248 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:603552 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Urinary incontinence, Optic nerve hypoplasia,... |
ORPHA:101085 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Hearing impairment |
ORPHA:397596 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Irritability, Macrotia, EEG with generalize... |
OMIM:617864 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... |
ORPHA:85450 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Recurrent urinary tract infections, Posteriorly rotated ears, Facial palsy, Abnorm... |
OMIM:615873 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ... |
ORPHA:100084 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy |
OMIM:611762 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis |
OMIM:614034 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Microphallus, Low-set ears, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Glomerulonephritis, Lymphadenopathy |
OMIM:619375 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Sézary Syndrome |
|
Tremor, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Hepatosplenomegaly, Depression, Dy... |
ORPHA:845 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hydronephrosis, Hearing impairment |
OMIM:620327 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... |
ORPHA:100924 |
Cinca Syndrome |
|
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... |
OMIM:607115 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Urinary incontinence, Cardio... |
OMIM:268800 |
Scrub Typhus |
|
Tremor, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:507 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn... |
OMIM:619644 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Cardiomegaly, Protruding ear, Irritability, Polycystic ki... |
OMIM:300855 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Lymphadenopathy |
OMIM:618495 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Otosclerosis, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hy... |
ORPHA:116 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Low-set ears... |
OMIM:306955 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment... |
ORPHA:79330 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Splenomegaly, Recurrent urinary tract infections, Lymph node hypoplasia |
OMIM:613179 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Oligosacchariduria, Facial palsy, Lymphadenopathy |
ORPHA:2483 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Lymphadenopathy, Depression, Bone marrow hypocellularity,... |
ORPHA:101096 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Macrotia, Sensorineural hearing impairment, Prot... |
ORPHA:500095 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Nephroblastoma |
|
Hematuria, Nephroblastoma, Lymphadenopathy |
ORPHA:654 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Bone marrow hypoce... |
ORPHA:3226 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Cinca Syndrome |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, P... |
ORPHA:1451 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decr... |
ORPHA:909 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Tremor, Opti... |
ORPHA:90321 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Splenomegaly, Sensorineural heari... |
ORPHA:36412 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Progressive hearing impairment, Oliguria, Anorexia |
ORPHA:514 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
EEG with burst suppression, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Low-set ea... |
ORPHA:79255 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormality of the kidney, Abnormal lymph node morphology |
ORPHA:54251 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
Primary Myelofibrosis |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Thyroid Lymphoma |
|
Lymphadenopathy, Dysphagia |
ORPHA:97285 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Posteriorly rotated ears, Lymphadenopathy, Low-set ears, Hepatosplenomegaly |
OMIM:619750 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow... |
ORPHA:549 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Partial development of the penile shaft |
OMIM:608800 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... |
OMIM:216400 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... |
OMIM:618935 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Immunodeficiency 7 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... |
OMIM:133540 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Dysphagia |
ORPHA:100026 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils, Hepatomegaly |
ORPHA:276 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Low... |
ORPHA:508 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Dysphagia |
ORPHA:142 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Multifocal epileptiform discharges, Ly... |
ORPHA:33226 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:98850 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Aganglionic megacolon, Lymphadenopathy |
ORPHA:3386 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Lymphadenopathy |
ORPHA:39041 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Dysphagia |
ORPHA:1332 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Hearing impairment, Splenomegaly, Renal cyst, Anterior creases of earl... |
OMIM:312870 |
Acute Promyelocytic Leukemia |
|
Hematuria, Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Abn... |
ORPHA:93552 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... |
ORPHA:97289 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Irritability, Hepatomegaly, Lymphadenopathy |
OMIM:267700 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym... |
ORPHA:2035 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Abnormal renal phy... |
ORPHA:540 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy |
OMIM:214500 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Mevalonic Aciduria |
|
Optic disc pallor, Posteriorly rotated ears, Fluctuating hepatomegaly, Fluctuating splenomegaly, ... |
OMIM:610377 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Irritability |
OMIM:603553 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias |
OMIM:618280 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, H... |
OMIM:619802 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Bone marrow hypo... |
ORPHA:47612 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, EEG with generalized slow activity, Dysphagia |
OMIM:618367 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Nephropathy |
ORPHA:809 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Lymphadenopathy |
ORPHA:99812 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... |
OMIM:260920 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy |
ORPHA:139402 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Graft Versus Host Disease |
|
Irritability, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Lymphadenopathy |
OMIM:304790 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Vesicoureteral reflux |
OMIM:615895 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... |
OMIM:619522 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Optic atrophy, Lymph... |
ORPHA:538 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior |
ORPHA:401973 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cervical lymphadenopathy, Sensorineural hearing impairm... |
OMIM:602782 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Hennekam Syndrome |
|
Ectopic kidney, External ear malformation, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe ki... |
ORPHA:2136 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Q Fever |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hematuria |
ORPHA:781 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Recurrent urinary tract infections, Hearing impairment |
OMIM:300755 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100082 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abno... |
ORPHA:50918 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Splenomegaly, Optic atrophy, Lymphadenopathy, Hepatosplenome... |
OMIM:615688 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... |
ORPHA:29073 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy |
ORPHA:139411 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:1333 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly |
ORPHA:79124 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Depression, Hematuria |
ORPHA:536 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Lymphadenopathy, Bilateral sensorineural hearing im... |
OMIM:619418 |
Acute Interstitial Pneumonia |
|
Lymphadenopathy |
ORPHA:79126 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Poems Syndrome |
|
Papilledema, Visceromegaly, Lymphadenopathy |
ORPHA:2905 |
Chédiak-Higashi Syndrome |
|
Tremor, Splenomegaly, Decreased nerve conduction velocity, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Lymphadenopathy |
ORPHA:293173 |
Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233710 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... |
ORPHA:556 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Low-set ears, Lymphadenopathy |
OMIM:607944 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Optic nerve compression, Hearing impairment |
ORPHA:667 |
Brucellosis |
|
Hepatomegaly, Glomerulonephritis, Anorexia, Abnormality of the peripheral nervous system, Hypersp... |
ORPHA:1304 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:233690 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Irritability, Nephrotic syndrome, Dystonia |
OMIM:615846 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr... |
ORPHA:37042 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Anorexia, Splenomegaly, Lymphadenopathy, Irritability |
ORPHA:117 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Dysphagia, Dystonia, Vesicouret... |
ORPHA:438213 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Mediastinal lymphadeno... |
ORPHA:228123 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Papilledema, Urinary incontinence, Aggressive behavior, Tremor... |
ORPHA:3385 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyp... |
ORPHA:3261 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls... |
ORPHA:353277 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Facial dipl... |
ORPHA:31150 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Abnormality of the peripheral... |
ORPHA:289390 |
Selective Igm Deficiency |
|
Lymphadenitis, Recurrent urinary tract infections, Lymphadenopathy |
ORPHA:331235 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy |
OMIM:306400 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Optic neuropathy, Splenomegaly, Mediastinal ... |
OMIM:181000 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis, Lymphadenopathy |
ORPHA:100078 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Facial palsy, Nephrolithiasis, Hypercalciuria, Abnormal lymph ... |
ORPHA:797 |
Lissencephaly 10 |
|
EEG abnormality, Torticollis, Aggressive behavior, Depression |
OMIM:618873 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Leptospirosis |
|
Hepatomegaly, Papilledema, Anorexia, Cellular urinary casts, Lymphadenopathy, Acute kidney injury |
ORPHA:509 |
Immunodeficiency 31C |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy, Depression |
ORPHA:324625 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Proteinuria, Anorexia, Splenomegaly, Lymphadenopathy, Hematuria, Agitation, Emotion... |
ORPHA:99827 |
Kawasaki Disease |
|
Irritability, Cervical lymphadenopathy, Proteinuria, Sterile pyuria |
ORPHA:2331 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Anorexia, Neoplasm of the thymus, Fatiguable weakness of proxim... |
ORPHA:99889 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Facial palsy, Splenomegaly, Stage 5 chronic kidney disease, Lymp... |
ORPHA:90340 |
Igg4-Related Submandibular Gland Disease |
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Renal insufficiency, Abnormality of the kidney, Lymphadenopathy |
ORPHA:449432 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Plague |
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Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Depression, ... |
ORPHA:707 |
Immunodeficiency 82 With Systemic Inflammation |
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Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Cholesteatoma |
OMIM:619381 |
Immunodeficiency 55 |
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Lymphadenopathy |
OMIM:617827 |
Marburg Hemorrhagic Fever |
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Renal insufficiency, Lymphadenopathy, Anorexia, Aggressive behavior |
ORPHA:99826 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Igg4-Related Ophthalmic Disease |
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Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormality of the k... |
ORPHA:449563 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Optic nerve compression, Lymphadenopathy |
ORPHA:79078 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Lymphadenopathy, Macrotia |
OMIM:256040 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |