Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Increased B cell count,... |
OMIM:619924 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Immunodeficiency 54 |
|
Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenocorticotropic h... |
OMIM:609981 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Enterocolitis, Redu... |
OMIM:616050 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Hepatosplenome... |
ORPHA:158057 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B lymphocytopenia, Death... |
OMIM:619164 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Pancreatitis, Microcolon, Megacystis, Urina... |
OMIM:155310 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... |
OMIM:620133 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Urinary incontinence, Growth delay, Pseudobulbar paralysis, Urinary retention |
OMIM:616586 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption, Splenomegaly, Lymphadenopathy, Grow... |
ORPHA:100025 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positive helper T c... |
OMIM:619510 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralytic ileus, Urinary retention, Hepatocellular carcinoma, Elev... |
OMIM:176000 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... |
OMIM:611926 |
Macdermot-Winter Syndrome |
|
Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, Intrauterine growth retard... |
OMIM:247990 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Urinary retention, Dysphagia |
OMIM:600072 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... |
OMIM:618108 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Iatrogenic Botulism |
|
Xerostomia, Urinary retention, Dysphagia |
ORPHA:254509 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder, Functional abnormality of the gastrointestinal tract |
ORPHA:100997 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Low posterior hairline |
ORPHA:1450 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Ileus, Porphyrinuria, Hyperhidros... |
ORPHA:79276 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Immunodeficiency 15B |
|
Death in infancy, Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Male sexual dysf... |
ORPHA:79093 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... |
ORPHA:195 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Primary adrenal insufficiency, Fine hair, Urinary urgency,... |
ORPHA:139399 |
Botulism |
|
Xerostomia, Urinary retention, Dysphagia |
ORPHA:1267 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Wound Botulism |
|
Urinary retention, Dysphagia |
ORPHA:178475 |
Foodborne Botulism |
|
Xerostomia, Urinary retention, Dysphagia |
ORPHA:228371 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Inhalational Botulism |
|
Xerostomia, Urinary retention |
ORPHA:254504 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Pgm3-Cdg |
|
Lactose intolerance, Hemolytic anemia, Membranoproliferative glomerulonephritis, Short stature, A... |
ORPHA:443811 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Short stature, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:3156 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Image Syndrome |
|
Hypospadias, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Hydronephrosis |
ORPHA:85173 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Growth delay, Pollakisuria, Urinary retention, Short stature |
ORPHA:447760 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Short stature, Gastrointestinal dysmotility, Growth delay, Gastroesophageal reflux, U... |
OMIM:617799 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Malabsorption, Protruding tongue, Macroglossia, T lymphocytopenia, Reduced natural... |
OMIM:242860 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Mild postnatal growth retardation, Unilater... |
ORPHA:90324 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydron... |
OMIM:613390 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormalit... |
ORPHA:1834 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Papillary renal ce... |
ORPHA:97290 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Nephronophthisis 19 |
|
Splenomegaly, Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosi... |
OMIM:616217 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia |
OMIM:147950 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, High palate, Hydronephrosis, Short stature |
ORPHA:85285 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Growth delay, Decreased proportion of C... |
OMIM:243700 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Urinary retention |
ORPHA:2126 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Recurrent urinary tract infections, Urinary urgency, Impotence, Urinary retention, De... |
ORPHA:99027 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
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 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, C... |
OMIM:619375 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose |
OMIM:614838 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the sense of smell |
ORPHA:2189 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia |
OMIM:613724 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... |
ORPHA:543 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari... |
OMIM:615190 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess |
OMIM:619752 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, High palate, Dysphagia, Hydronephrosis |
OMIM:618578 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Hydronephrosis, Highly arched eyebrow |
ORPHA:251076 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hypothyroidism, Grow... |
OMIM:222300 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Weight loss |
ORPHA:248111 |
Gorlin Syndrome |
|
Hydrocephalus, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Abnormal hair morphology, Stillbirth, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... |
OMIM:100100 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci... |
ORPHA:319487 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Intrauterine growth retardation, Aplasia/... |
ORPHA:3305 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Abscess, Perianal abscess, Spl... |
OMIM:618935 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Bohring-Opitz Syndrome |
|
Short stature, Synophrys, Annular pancreas, Cleft palate, Urinary retention, Intrauterine growth ... |
ORPHA:97297 |
Acute Transverse Myelitis |
|
Urinary incontinence, Abscess, Paralytic ileus, Urinary retention, Abnormal libido, Urinary bladd... |
ORPHA:139417 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia |
OMIM:617885 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:612702 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... |
OMIM:615559 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:610628 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre... |
ORPHA:85450 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomega... |
OMIM:608233 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Hydronephrosis |
OMIM:617127 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Alopecia, Hypospadias, Short stature, Abnormal hair pattern, Malabsorption, ... |
ORPHA:2315 |
Netherton Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Malabsorption, Ectopic kidney, Sparse eyebrow... |
ORPHA:634 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Intrauterine growth retardation, Postnatal growth retardation, Abnormal renal co... |
OMIM:616733 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:615996 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Neurogenic bladder, Urinary retention |
OMIM:600145 |
Camurati-Engelmann Disease |
|
Splenomegaly, Leukopenia, Hypogonadism, Urinary retention, Delayed puberty, Anemia |
ORPHA:1328 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Abnormal T cell subset distributio... |
ORPHA:221139 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Iron deficiency anemia, Inflammation of the large intestine,... |
OMIM:301074 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct... |
OMIM:243150 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Huntington Disease-Like 2 |
|
Bradykinesia, Weight loss |
OMIM:606438 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Unilateral renal agenesis, ... |
OMIM:609757 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Esophageal varix, ... |
OMIM:216360 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis |
ORPHA:474 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Distal Duplication 6P |
|
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, ... |
ORPHA:1745 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morpholog... |
ORPHA:1655 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:244200 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Parkes Weber Syndrome |
|
Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Abnormal lymphatic vess... |
ORPHA:90307 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... |
ORPHA:79403 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cleft palate, Low posterior h... |
OMIM:220210 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedulla... |
OMIM:618541 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... |
OMIM:615926 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morph... |
ORPHA:531151 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Cleft palate, Generalized ... |
ORPHA:261290 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Short stature, Rectal fistula, Rectal atre... |
OMIM:115470 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly... |
OMIM:612541 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Growth delay, Hydronephrosis |
OMIM:179613 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Huntington Disease |
|
Abnormality of the sense of smell |
ORPHA:399 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Splenomegaly... |
OMIM:263200 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Chronic kidney disease, Short stature, Nephronophthisis |
OMIM:615630 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... |
OMIM:618161 |
Joubert Syndrome 37 |
|
Decreased testicular size, Short stature, Cryptorchidism, High palate, Sparse hair, Micropenis, H... |
OMIM:619185 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary ly... |
OMIM:235255 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Short stature, Hydronephrosis, Cleft palate |
OMIM:618265 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Abnormality of the menstrual cycle, Urinary bladder... |
ORPHA:556 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:178029 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Cleft palate, Growth delay, Aplasia/Hypoplasia of the thymus, Displacement of ... |
ORPHA:1727 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... |
ORPHA:37202 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Short stature, Cryptorchidism, Thrombocytopenia, Megar... |
OMIM:301056 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Frontal upsweep of hair, Hydronephrosis |
OMIM:619797 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Lymphadenit... |
ORPHA:331235 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Pericardial lymphangiectasia, Mild postnatal growth retardation, Ectopi... |
OMIM:235510 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Ataxia, Dysmetria, Gait ataxia |
OMIM:618093 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombo... |
OMIM:304790 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Short stature, ... |
ORPHA:391641 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... |
ORPHA:331206 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, ... |
OMIM:603909 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal hypoplasia, Cleft palate, A... |
OMIM:618494 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia |
OMIM:243000 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Lymphadenopathy, B lymphocytopenia, Decreased proportion ... |
OMIM:618048 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Growth delay, ... |
ORPHA:2083 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:614897 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Short stature, Abnormality of hair t... |
ORPHA:96169 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Short stature, Renal hyp... |
ORPHA:2473 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... |
ORPHA:2470 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:618495 |
Rhyns Syndrome |
|
Renal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Chroni... |
OMIM:602152 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short stature, Postnatal growth retarda... |
ORPHA:7 |
Multiple Osteochondromas |
|
Intestinal obstruction, Urinary retention, Short stature, Dysphagia |
ORPHA:321 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Intestinal malrotation, Cryptorchidism, Cleft palate, Growth delay, Gastroesophage... |
ORPHA:457193 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Trisomy 13 |
|
Abnormal eyelash morphology, High, narrow palate, Cryptorchidism, Abnormality of the ureter, Clef... |
ORPHA:3378 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Baller-Gerold Syndrome |
|
Short stature, Malabsorption, Abnormality of the ureter, Abnormal localization of kidney, Cleft p... |
ORPHA:1225 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Anal atresia, Hydronephrosis, En... |
OMIM:314390 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Short stature, Malabsorption, Pyloric stenosis, Crypto... |
ORPHA:912 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Hemolytic-uremic syndrome, Postnatal... |
OMIM:611209 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno... |
ORPHA:2686 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Congenital pyloric atres... |
ORPHA:158684 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Hepatocellular carcinoma, Splenomegaly, Death in childhood, Fat malabsorption |
OMIM:601847 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hepatosplenomegaly, Growth delay, Esophagitis, Intrauterine growth ... |
ORPHA:541423 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... |
OMIM:607594 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft pala... |
OMIM:243605 |
Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, High palate, Frontal hirsutism, ... |
OMIM:618950 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... |
ORPHA:54251 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Hydronephrosis, Cleft palate |
OMIM:602418 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Short stature, Splenomegaly, Cryptorchidism, Low anterior hairline, Hypercalciuri... |
OMIM:618440 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, High palate, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Low anterior hair... |
ORPHA:99812 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Kury-Isidor Syndrome |
|
Alopecia, Growth delay, High palate, Hydronephrosis, Hypertrichosis |
OMIM:619762 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
OMIM:613011 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Lympha... |
OMIM:619183 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Abnormal medullary pyramid morphology, Intrauterine growth retardation |
ORPHA:79243 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Hashimoto thyroiditis, Renovascular hypertension... |
ORPHA:49041 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal eyelash morpholo... |
ORPHA:381 |
Czeizel-Losonci Syndrome |
|
Tracheoesophageal fistula, Ureteral agenesis, Abnormality of the urinary system, Congenital megau... |
ORPHA:2437 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Frontal upswe... |
OMIM:617798 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive ... |
OMIM:617099 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Kleine-Levin Syndrome |
|
Parosmia |
ORPHA:33543 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Short stature, Postnatal growth retardation, High, narrow palate, Cryp... |
OMIM:612513 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Micropenis, Hydrone... |
ORPHA:1926 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... |
ORPHA:439232 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... |
ORPHA:158061 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Highly arched eyebrow, Supe... |
ORPHA:261494 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Short stature, Hydronephrosis |
OMIM:620141 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Toluene Embryopathy |
|
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Bardet-Biedl Syndrome 17 |
|
Hyposmia, Anosmia |
OMIM:615994 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Gr... |
OMIM:614034 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy... |
ORPHA:3392 |
Septo-Optic Dysplasia Spectrum |
|
Anosmia, Agenesis of corpus callosum |
ORPHA:3157 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short stature, Protruding tongue, Splenomegaly, Low anterior hairline, Growth... |
OMIM:608779 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Horseshoe kidney, Cleft pa... |
ORPHA:99776 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... |
ORPHA:35173 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia |
ORPHA:2316 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... |
ORPHA:139466 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... |
ORPHA:98848 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... |
OMIM:301078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption |
ORPHA:309108 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph... |
OMIM:602579 |
Zaki Syndrome |
|
Sparse scalp hair, Renal agenesis, Short stature, Sparse eyebrow, High palate, Hydronephrosis, Sp... |
OMIM:619648 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hypereosinophilia, Hydronephrosis |
ORPHA:449400 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, High palate, Renal... |
OMIM:617913 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Parathyroid hyp... |
ORPHA:2237 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Short stature, Aplasia/Hypoplasia of the uvula, High, narrow palate,... |
ORPHA:2496 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Generalized ... |
ORPHA:2510 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Hi... |
ORPHA:314588 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Difficulty walking, Weight loss |
ORPHA:98897 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Nephro... |
ORPHA:79327 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Re... |
OMIM:601186 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Highly arched eyebrow, Trichiasis, Neutropenia, Renal hypopl... |
OMIM:618460 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le... |
ORPHA:507 |
Eec Syndrome |
|
Hypospadias, Short stature, Decreased response to growth hormone stimulation test, Renal hypoplas... |
ORPHA:1896 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, High palate, Hydronephrosis, Cleft palate |
ORPHA:488613 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
Joubert Syndrome 3 |
|
Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter... |
OMIM:604292 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Kufor-Rakeb Syndrome |
|
Hyposmia, Anosmia |
OMIM:606693 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Short stature, Decre... |
OMIM:146510 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa... |
ORPHA:100078 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Bladder exstrophy, Short stature, Cleft soft palate, Hepatosplenomegaly, P... |
OMIM:301068 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Anal stenosis, Hypospadias, Short stature, Abnormality of ... |
ORPHA:235 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne... |
OMIM:308240 |
Huntington Disease-Like 1 |
|
Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance |
ORPHA:157941 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, High pala... |
ORPHA:1297 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Tarp Syndrome |
|
Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth re... |
OMIM:311900 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Cryptorchidism, Narrow palate, Micropenis, Hydronephrosis |
ORPHA:364028 |
Noonan Syndrome 4 |
|
Ureteral duplication, Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, High anterior ha... |
OMIM:610733 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy |
ORPHA:397596 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
OMIM:616100 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydro... |
ORPHA:93260 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Refsum Disease, Classic |
|
Anosmia |
OMIM:266500 |
Odontochondrodysplasia 1 |
|
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Short stature, Premature ovarian insufficiency... |
OMIM:251260 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:308700 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functio... |
ORPHA:391487 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation, Cleft palate, Hy... |
OMIM:614080 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Anosmia |
OMIM:601152 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cleft palate, Intrauterine growth retardation, Micropenis, Hydronephrosis |
OMIM:616897 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... |
OMIM:611376 |
Holoprosencephaly |
|
Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Hydrocep... |
ORPHA:2162 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Hydronephrosis, Short stature, Fine hair |
ORPHA:3079 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Cleft palate, Congenital megaureter, Hydronephrosis... |
ORPHA:261344 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Thick hair, Cryptorchidism, Abnorm... |
ORPHA:261318 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... |
ORPHA:2070 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Inte... |
ORPHA:160 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th... |
ORPHA:847 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... |
OMIM:601346 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... |
OMIM:614162 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Growth delay,... |
OMIM:243910 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Elbow flexion contracture, T lym... |
ORPHA:508533 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Protruding tongue, Postnatal growth retardation, Cryptorchidism, Red... |
OMIM:301040 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis |
OMIM:615122 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymphadenopathy, Panniculitis... |
OMIM:617591 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Short stature, Abnormality of thyroid physiology, Cleft palate, Bifid uvula, Uni... |
OMIM:300968 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Growth dela... |
ORPHA:1358 |
Perry Syndrome |
|
Bradykinesia, Short stepped shuffling gait, Akinesia, Weight loss |
OMIM:168605 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy |
ORPHA:654 |
Carpenter Syndrome 1 |
|
Hydroureter, Short stature, Cryptorchidism, High palate, Polysplenia, Hydronephrosis |
OMIM:201000 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur... |
OMIM:619488 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... |
OMIM:258040 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Supernumerary nipple, Anteriorly placed anus, Hydro... |
ORPHA:247262 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fi... |
ORPHA:261349 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:858 |
Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... |
OMIM:614527 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent eyelashes, Short stature, Hydronephrosis, Protruding tongue |
OMIM:619179 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
Autosomal Recessive Polycystic Kidney Disease |
|
Biliary hyperplasia, Protein-losing enteropathy, Hepatoblastoma, Oliguria, Hepatosplenomegaly, Re... |
ORPHA:731 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Thrombocytopenia, Enlarged tonsils, Proximal renal tubular acidosis,... |
ORPHA:2785 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Aganglionic megacol... |
OMIM:229850 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Functional abnormality of the bladder, Malrotation of small bowel, Nephrolithiasi... |
ORPHA:2953 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Short stature, Rectovaginal fistula, Vesicoureteral reflu... |
OMIM:300707 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Polyendocrine-Polyneuropathy Syndrome |
|
Abnormality of the sense of smell |
OMIM:616113 |
Pure Autonomic Failure |
|
Dysuria, Anhidrosis, Impotence, Urinary incontinence |
ORPHA:441 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... |
ORPHA:100026 |
Refsum Disease |
|
Anosmia |
ORPHA:773 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss |
ORPHA:216866 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Fine hair, Gastro... |
ORPHA:85201 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia |
OMIM:308750 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Growth delay, Hypoplasia of the thymus, Gast... |
OMIM:613177 |
Kabuki Syndrome 1 |
|
High palate, Micropenis, Hemolytic anemia, Short stature, Highly arched eyebrow, Autoimmune throm... |
OMIM:147920 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Hypothyr... |
ORPHA:453499 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Cleft palate, Furrowed tongue, High palate, Gastroesophageal reflux, Sparse hair, Hy... |
OMIM:616449 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Short stature, Abnormality of hair texture, Pyloric stenosis,... |
OMIM:610443 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Short stature, Unilateral renal agenesis, Anterior pituitary hypoplasia, Pyloric ste... |
ORPHA:464306 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Mesomelic/rhizomelic limb shortening, Cleft palate, Neonatal short-trunk short sta... |
ORPHA:2839 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Absent eyelashes, Splenomegaly, Sub... |
OMIM:115150 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High palate, Gastroesophageal reflux,... |
OMIM:122470 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Esoph... |
OMIM:192350 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Renal agenesis, Aganglionic megacolon, Renal hypoplasia, Horses... |
OMIM:607323 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad... |
ORPHA:824 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Pyloric stenosis, Cryptorchi... |
ORPHA:2308 |
Thakker-Donnai Syndrome |
|
Tracheoesophageal fistula, Rectovaginal fistula, Intrauterine growth retardation, Hydronephrosis,... |
ORPHA:1780 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete... |
OMIM:129900 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Cleft palate, Horseshoe kidn... |
ORPHA:2886 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Growth delay, Dysphagia, Hydronephrosis |
ORPHA:101000 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... |
ORPHA:98850 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... |
OMIM:615710 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Ataxia, Weight loss |
ORPHA:79242 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Short stature, Cryptorchidism, Cleft palate, High palate, Vesicoureter... |
ORPHA:96061 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... |
OMIM:236700 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Sp... |
ORPHA:2729 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Birth length less than 3rd pe... |
ORPHA:464311 |
Gerstmann-Straussler Disease |
|
Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia |
OMIM:137440 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Dilatation of the... |
OMIM:265380 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, ... |
OMIM:272950 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Hydronephrosis, Cryptorchidism |
OMIM:620327 |
Pseudomyxoma Peritonei |
|
Hernia, Lymphadenopathy |
ORPHA:26790 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Cryptorchidism, High palate, Frontal upsweep of hair, Intrauterine growth retarda... |
OMIM:617557 |
Distal Deletion 12Q |
|
Short stature, Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Esophageal atresia... |
ORPHA:96149 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, High palate, Hydronephrosis, Absent nipple |
OMIM:104350 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis |
ORPHA:568 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Christianson Syndrome |
|
Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Abnorm... |
ORPHA:1340 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Short stature, Hydronephrosis |
ORPHA:2484 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Patchy alopecia, Spar... |
OMIM:302960 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Anteriorly placed anus, High palate,... |
OMIM:618653 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, High palate, Vesicoureteral reflux, Intrauterine growth retardatio... |
ORPHA:250989 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... |
ORPHA:2322 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Intrauterine growth retardation, Postnatal growth retardation, Hydr... |
OMIM:617093 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, Cryptorchidism, Sy... |
OMIM:616737 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Ren... |
OMIM:618454 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Ataxia, Weight loss |
ORPHA:3208 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Widow's peak, Tracheoesophageal fis... |
ORPHA:2745 |
White-Kernohan Syndrome |
|
Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Anteriorly placed anus, Gastroeso... |
OMIM:619426 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Splenopancreatic fusio... |
OMIM:269150 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance |
ORPHA:702 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Male hyp... |
ORPHA:3463 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Sparse scalp hair, Fair hair, Short stature, Rhizomelia, Pancreatic cysts, ... |
OMIM:266920 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Felty Syndrome |
|
Splenomegaly, Thrombocytopenia, Neutropenia, Lymphadenopathy, Bone marrow hypocellularity, Cellul... |
ORPHA:47612 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, High, narrow palate, Abnormal renal morphology, Horseshoe kidney, Bifid ... |
ORPHA:314585 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Macroglossia, Hydronephrosis, Intrauterine growth retardation |
ORPHA:254528 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Trisomy 18 |
|
Short stature, Abnormality of the upper urinary tract, Esophageal atresia, Cryptorchidism, Narrow... |
ORPHA:3380 |
Young-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:2828 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Macroglossia, Albuminuria, A... |
OMIM:214100 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Abnormality of the uret... |
ORPHA:537 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Hydroureter, Synophrys, Hypertrophy of the urinary bladder, Unilateral renal dyspl... |
ORPHA:280633 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia |
ORPHA:97229 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Kallmann Syndrome |
|
Hyposmia, Anosmia |
ORPHA:478 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Short nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisi... |
OMIM:614099 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Micropenis, Bifid uvula, Penos... |
OMIM:270400 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, High, narrow palate, Synophrys, Cryptorchidism, Abnormality of the urinary syste... |
ORPHA:96092 |
Congenital Myopathy 17 |
|
Renal hypoplasia, Cleft palate, High palate, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:618975 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Villous atrophy, Rhizomelia, Ureteral hypoplasia, Low posterior hairli... |
ORPHA:79328 |
Apert Syndrome |
|
Esophageal atresia, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis... |
OMIM:101200 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Cle... |
OMIM:616580 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hyposmia, Anosmia, Absent nares, Single naris |
ORPHA:2250 |
3Mc Syndrome 1 |
|
Highly arched eyebrow, Supernumerary nipple, Postnatal growth retardation, Synophrys, Cleft palat... |
OMIM:257920 |
Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Cleft palate, Hydronephrosis, Growth delay, Delayed puberty, Bifid uvula |
OMIM:614921 |
Superficial Siderosis |
|
Anosmia, Partial anosmia, Dysgyria |
ORPHA:247245 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Hyperhidrosis, Hydronephrosis, Anemia |
ORPHA:35687 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... |
ORPHA:444072 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophil... |
ORPHA:36426 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, High, narr... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, High, narr... |
ORPHA:352665 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Growth delay, Death in childhood, Neonatal death, Volvulus, Mi... |
OMIM:609313 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ... |
ORPHA:2035 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis |
OMIM:257200 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Postnatal growth retardation, Pyloric stenosis, Biliary hyperplasia, Cr... |
ORPHA:83617 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
Moebius Syndrome |
|
Abnormality of the sense of smell |
ORPHA:570 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Alopecia, Renal hypoplasia/aplasia, Horseshoe kidney, Gastroesophag... |
ORPHA:2092 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... |
ORPHA:223 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short s... |
ORPHA:1606 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Hypospadias, Sparse eyebrow, High, narrow palate, Cleft palate, Furrowed tongu... |
ORPHA:464738 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Postnatal growth retardation, Spar... |
ORPHA:487796 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Short stat... |
ORPHA:818 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:83469 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Hypospadias, Cryptorchidism, Cleft palate, Intrauterine growth... |
OMIM:300712 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Pancreatitis, Lymphad... |
ORPHA:342 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Ataxia, Cachexia |
ORPHA:42 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... |
ORPHA:900 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Cleft palate, Lo... |
ORPHA:264450 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cleft palate, Congenital hypothyroidism, Growth delay, High palate, Dysphagia... |
OMIM:616973 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Sparse eyebrow,... |
ORPHA:506358 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Hypospadias, Cryptorchidism, Thrombocytopenia, Cleft palate, M... |
ORPHA:163979 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Short stature, Unilateral renal agenesis, Cryptorchidism, Sparse anterior scalp hair... |
ORPHA:96121 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Cousin Syndrome |
|
Rhizomelia, Disproportionate short stature, Low anterior hairline, Cleft palate, Facial hirsutism... |
OMIM:260660 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
Joubert Syndrome 2 |
|
Renal insufficiency, High palate, Renal cyst, Nephronophthisis |
OMIM:608091 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Difficulty walking, Weight loss |
ORPHA:905 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Occipital Horn Syndrome |
|
Ureteral obstruction, Hiatus hernia, Growth delay, Bladder diverticulum, Coarse hair, High palate... |
OMIM:304150 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
8P11.2 Deletion Syndrome |
|
Anosmia, Depressed nasal bridge |
ORPHA:251066 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Highly arched eyebrow, Abnormality of the upper urinary tract, Low posterior hairlin... |
ORPHA:2995 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Cryptorchid... |
OMIM:619522 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Brittle hair, Hamartoma of tongue... |
ORPHA:2750 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... |
ORPHA:1451 |
Meningioma |
|
Hydrocephalus, Abnormality of the sense of smell |
ORPHA:2495 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... |
ORPHA:51636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233710 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Raine Syndrome |
|
Hydroureter, Short stature, Highly arched eyebrow, Protruding tongue, Cleft palate, High palate, ... |
OMIM:259775 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Growth delay, Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Cleft palate, High palate, Hydronephrosis, Hirsutism |
OMIM:305620 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Ectopic kidney, High palate, Hypospadias, Short stature, Cryptorchidism, Renal hypoplas... |
OMIM:135900 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... |
OMIM:214800 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enter... |
OMIM:619991 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Micropenis, Hypothyroidism, Hypospadias, Short stature, Urethrovaginal fi... |
OMIM:243800 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233690 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Hereditary Late-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:411602 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Highly arched eyebrow, Cleft palate, Fine hair, Hydrocele testis, A... |
OMIM:280000 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Aganglionic megacolon, Myeloid leukemia, Generalized hypertrichosis, A... |
ORPHA:798 |
Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Hepatic hemangioma, High pa... |
OMIM:180849 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis, Anal atresia |
OMIM:271520 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma... |
OMIM:617718 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Short stature, Celiac disease, Cryptorchidism, Dilatation of the ren... |
ORPHA:2044 |
Legionnaires Disease |
|
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cellulitis, Lymphopenia |
ORPHA:549 |
Charge Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Highly arched eyebrow, Abnormal soft palate morphol... |
ORPHA:138 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:256700 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel, Thrombocytop... |
ORPHA:169090 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Eosinophilia, Prostatitis, Xerostomia, Enlarged l... |
ORPHA:449432 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia |
OMIM:312750 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Long eyelashes, M... |
OMIM:268310 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Short stature, Dysuria, Col... |
OMIM:618131 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Short statur... |
ORPHA:709 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Alopecia, Cryptorchidism, Ectopic anus, Long e... |
ORPHA:1507 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni... |
OMIM:214500 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Ataxia, Cachexia |
ORPHA:52503 |
Leopard Syndrome 1 |
|
Hyposmia, Spina bifida occulta, Depressed nasal ridge |
OMIM:151100 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Urachal Cyst |
|
Abscess, Dysuria, Pyuria, Urachus fistula, Leukocytosis, Hematuria |
ORPHA:488 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Growth delay, Moderate albuminuria, Hydronephrosis, Proportionate short stature |
OMIM:619269 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Ureteral obstruction, Cleft palate, Glossoptosis, Hydronephrosis |
ORPHA:90652 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hypospadias, Cryptorchidism, Polysp... |
OMIM:312870 |
Monosomy 22Q13.3 |
|
Hypohidrosis, Hydronephrosis, Gastroesophageal reflux, Long eyelashes, Vesicoureteral reflux, Rec... |
ORPHA:48652 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Alopecia, Short stature, Unilateral renal agenesis, Mild intrauterine growth ... |
OMIM:308050 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Celiac disease, Cryptorchidism, Glandular hypospadias, Low posterior ... |
OMIM:136140 |
Holoprosencephaly 3 |
|
Bifid uvula, Hydronephrosis, Cleft palate |
OMIM:142945 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Alopecia, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Alopecia, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363958 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia |
OMIM:609136 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking |
ORPHA:300605 |
Gm1 Gangliosidosis |
|
Ataxia, Unsteady gait, Weight loss, Gait disturbance, Failure to thrive |
ORPHA:354 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly, Hemophagocy... |
ORPHA:39812 |
Wilson Disease |
|
Hyposmia |
OMIM:277900 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He... |
OMIM:603553 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Short stature, High, narrow palate, Rectal prolap... |
ORPHA:79076 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell |
ORPHA:198 |
Chime Syndrome |
|
Abnormality of the kidney, Cleft palate, Fine hair, Acute leukemia, Sparse hair, Hydronephrosis |
ORPHA:3474 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia |
OMIM:267700 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal... |
OMIM:601776 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper ... |
ORPHA:2636 |
Pudendal Neuralgia |
|
Dyspareunia, Anal canal adenocarcinoma, Dysuria, Pollakisuria, Impotence |
ORPHA:60039 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Amoebiasis Due To Free-Living Amoebae |
|
Hyposmia |
ORPHA:68 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Hematochezia, Protein-losing enteropathy, Hypothyroidism, Renal dysplasia |
OMIM:618183 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:305600 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Short stature, Cryptorch... |
ORPHA:353281 |
Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Urethral stenosis, Cleft palate, Growth delay, Bifid uvula, Hydronephrosis |
ORPHA:1826 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormal... |
ORPHA:2273 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope... |
OMIM:308230 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Highly arched eyebrow, Bilateral cryp... |
OMIM:616268 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, Pannic... |
OMIM:615688 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Pyloric stenosis, Alopecia of scalp, Horizontal eyebrow, Bifid uret... |
OMIM:267750 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Alopecia, Generalized lymphadenopathy, Splenomegaly, C... |
ORPHA:50918 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... |
OMIM:613254 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cryptorchidism, High anterior hairline, Webbed penis... |
ORPHA:97360 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Anal stenosis, Cryptorchidism, Malrotation of sm... |
OMIM:606170 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:306400 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Cleft palate, Adrenal gland dysgenesis, Intrauterine growth retard... |
OMIM:236680 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Renal hypoplasia... |
ORPHA:93271 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia |
ORPHA:809 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Intestinal malrotatio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Intestinal malrotatio... |
ORPHA:353277 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... |
ORPHA:83471 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Horsesho... |
ORPHA:3310 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short statu... |
ORPHA:647 |
H Syndrome |
|
Lipodystrophy, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Hernia, Camptodactyly, His... |
ORPHA:168569 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia |
ORPHA:1572 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Weight loss |
ORPHA:465508 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Secondary Syringomyelia |
|
Pseudobulbar paralysis, Dysuria |
ORPHA:99857 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Cleft palate, Coarse hair, Frontal hirsutism, Hydronephrosis |
OMIM:309350 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Cryptorchidism, Abnormality of the anterior pituitary, Nephrolithiasis, Anemia, Ga... |
ORPHA:438213 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Anemia |
OMIM:615895 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short stature, Rhizomelia, Cryptorchidism, Narrow palate, Macroglossia, High palate, Long eyelash... |
OMIM:180700 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia |
OMIM:607459 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Mesomelia-Synostoses Syndrome |
|
Mesomelic short stature, Hydronephrosis, Absent uvula |
OMIM:600383 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vesicoureteral r... |
ORPHA:2152 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow |
OMIM:620047 |
Campomelic Dysplasia |
|
Hypospadias, Short nail, Submucous cleft hard palate, Cleft palate, High palate, Disproportionate... |
OMIM:114290 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Hypoth... |
OMIM:619472 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Low anterior hairline, Cl... |
ORPHA:79500 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Curly hair, Short stature, Cyst of the ductus choledochus, Abnormal circulating ... |
ORPHA:480880 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Renal hypoplasia, Bifid uvula, Dysphagia, Vesicoureteral reflux, Abno... |
ORPHA:2363 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Failure to thrive, Weight loss |
ORPHA:199299 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Weight loss |
ORPHA:134 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hemolytic anemia, Renal insufficiency, Alopecia, Hyper... |
ORPHA:797 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gait disturbance, Weight loss |
ORPHA:183 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Hyperthyroidism, Hypospadias, Short statur... |
ORPHA:3455 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Ataxia, Weight loss |
ORPHA:20 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Rhizomelia, Bilobate gallbladder, Postnatal growth retardation... |
OMIM:261540 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Obesity, Cachexia |
ORPHA:85293 |
Giant Cell Arteritis |
|
Ataxia, Weight loss |
ORPHA:397 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... |
ORPHA:167 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni... |
ORPHA:261537 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Splenomegaly, Cervical lymphadenopathy, Elbow flexion contracture, Lymph... |
OMIM:602782 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:139411 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Short stature, Anterior pituitary hypoplasia, Splenomegaly, Dila... |
OMIM:619534 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss |
OMIM:619487 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absen... |
OMIM:219000 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Granuloma, High palate, Hydro... |
ORPHA:363700 |
Lynch Syndrome |
|
Gait disturbance, Weight loss |
ORPHA:144 |
Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Elevated circulating growth hormone concent... |
ORPHA:314769 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Acromegaly |
|
Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Elevated circulating growth hormone concent... |
ORPHA:963 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni... |
ORPHA:261552 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Trichiasis, Oral-pharyngeal dysphagia, Intestinal perforation... |
ORPHA:95455 |
Familial Colorectal Cancer Type X |
|
Gait disturbance, Weight loss |
ORPHA:440437 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Whipple Disease |
|
Ataxia, Cachexia |
ORPHA:3452 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Hydronephrosis |
OMIM:610682 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Cellulitis |
ORPHA:32960 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Widow's peak, Cleft pal... |
OMIM:304120 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
Riddle Syndrome |
|
Ataxia, Gait disturbance, Weight loss |
ORPHA:420741 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia |
ORPHA:220295 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss |
ORPHA:99885 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Enthesitis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly |
ORPHA:1333 |
Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Difficulty walking, Weight loss |
OMIM:164310 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Lipodystrophy, Camptodactyly of finger, Microcytic anemia, Splenomegaly, Adipose tissue loss, Fle... |
OMIM:256040 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Alveolar Echinococcosis |
|
Ataxia, Weight loss |
ORPHA:284 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Bifid uvula, High palate, Hydronephrosis |
OMIM:620330 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Schwartz-Jampel Syndrome |
|
Gait disturbance, Cachexia, Decreased body weight |
ORPHA:800 |
African Trypanosomiasis |
|
Akinesia, Narcolepsy, Weight loss, Choreoathetosis, Gait disturbance, Difficulty walking |
ORPHA:3385 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Behçet Disease |
|
Ataxia, Gait disturbance, Weight loss |
ORPHA:117 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
Cockayne Syndrome |
|
Ataxia, Cachexia, Inability to walk, Progressive gait ataxia, Gait disturbance, Difficulty walking |
ORPHA:191 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Brucellosis |
|
Failure to thrive, Small for gestational age, Weight loss |
ORPHA:1304 |
Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Choreoacanthocytosis |
|
Loss of ambulation, Falls, Bradykinesia, Weight loss |
ORPHA:2388 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Weight loss |
ORPHA:652 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Broad-based gait, Limb ataxia |
ORPHA:2072 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |