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Gene: Mtss1 MGI:2384818

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

MTSS I-BAR domain containing 1

Synonyms:

2310003N14Rik, MIM, D130001D01Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mtss1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Mtss1 (0 diseases)
Human diseases predicted to be associated with Mtss1 (1029 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mtss1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased...	OMIM:615897
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci...	ORPHA:18
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu...	ORPHA:199343
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla...	OMIM:619126
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re...	OMIM:618347
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Autosomal Dominant Hypocalcemia	Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ...	ORPHA:428
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo...	ORPHA:73224
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa...	OMIM:269840
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circu...	OMIM:612780
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage...	OMIM:617575
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decreased proporti...	OMIM:618944
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ...	OMIM:263800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph...	ORPHA:3261
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly...	OMIM:617671
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Renal phosphate was...	OMIM:612286
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ...	OMIM:619428
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Nocturia, Anorexia	ORPHA:178029
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Bronchiectasis,...	OMIM:616005
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Renal phosphate wasting, Hypophosph...	OMIM:612287
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot...	OMIM:607426
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Aminoaciduria, Hypokalemia,...	ORPHA:213
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 19	Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce...	OMIM:615617
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ...	OMIM:618394
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal sa...	OMIM:601678
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc...	OMIM:241200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Increa...	ORPHA:37748
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Delayed epiphyseal ossification, Chronic ki...	OMIM:300009
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp...	OMIM:209950
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Rickets, Generalized aminoaciduria, H...	OMIM:613388
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Osteoporosis, Polyuria, Rickets	OMIM:560000
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Thrombocytopenia	ORPHA:1980
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Delayed epiphyseal ossification, Chronic kidney disease, Ricke...	OMIM:300554
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney...	ORPHA:411634
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, B-cell lymphoma, Lymphoproli...	OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ...	OMIM:102700
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp...	OMIM:618495
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Osteoporosis, Stage 5 chron...	OMIM:619487
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopeni...	OMIM:620210
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Polydipsia, Increased urinary potassium	ORPHA:231580
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Focal segmental glomerulosclerosis, H...	OMIM:232200
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,...	ORPHA:157215
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Absence of lymph node germinal center...	OMIM:608184
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, R...	ORPHA:99880
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Glycosuria, Aminoacidu...	OMIM:615605
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph...	OMIM:276700
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Focal segmental glomerulosclerosis, H...	OMIM:232220
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Familial Hyperaldosteronism Type Iii	Hypokalemia, Polydipsia, Hypercalciuria	ORPHA:251274
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Osteoporosis, Nephrolithiasis, R...	ORPHA:143
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena...	ORPHA:97362
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,...	OMIM:616433
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota...	OMIM:613496
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal tubul...	OMIM:617303
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Abnormality of the kidney, Scleros...	ORPHA:166119
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 chronic kidney disease, F...	ORPHA:1830
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn...	ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glo...	OMIM:242900
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Hypophosphatemia, Nephrocalcinosis, Aminoa...	OMIM:616026
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria	ORPHA:247691
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona...	OMIM:214900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Delayed epiphyseal ossificat...	OMIM:241530
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha...	OMIM:617591
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Polydipsia, Nephrolithiasis	ORPHA:369929
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy...	ORPHA:314588
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Hypercalciuria, Micropenis	OMIM:614732
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphad...	ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellu...	ORPHA:391
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Enterocolitis, Anemi...	OMIM:616050
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly...	OMIM:608836
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of neuronal migration	ORPHA:2204
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at...	OMIM:208540
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematological neoplasm, Hypersplenism...	ORPHA:98850
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin...	ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Joubert Syndrome 20	Renal cyst	OMIM:614970
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer...	OMIM:609981
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Cranioectodermal Dysplasia 1	Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteoporosis, Stage 5...	OMIM:218330
Fanconi-Bickel Syndrome	Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac...	ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co...	OMIM:601495
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ...	OMIM:232240
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ...	ORPHA:540
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hyp...	ORPHA:358
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynos...	OMIM:241500
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Azoospermia, Arthritis, Cirrhosis	OMIM:602390
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Osteomalacia, Rickets, Hypercalciuria, G...	OMIM:227810
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Dysuria, Osteolysis, Polydipsia, Hydronephrosis	ORPHA:35687
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac...	ORPHA:398124
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Poikilocytosis, Eleva...	OMIM:615234
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Pa...	OMIM:615966
Axial Osteomalacia	Renal cyst	OMIM:109130
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a...	ORPHA:77297
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria	OMIM:145980
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,...	OMIM:307200
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom...	OMIM:615688
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly...	OMIM:170100
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp...	ORPHA:289176
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia	ORPHA:3157
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukop...	ORPHA:77259
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma...	OMIM:619381
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Recurrent oti...	OMIM:605309
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia	OMIM:620296
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Rickets, Renal phosphate wasting, Renal...	OMIM:307800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils	ORPHA:93476
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5...	OMIM:118450
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Arthritis	OMIM:228000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ...	ORPHA:731
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Osteolysis, Oliguria, Dysphagia	ORPHA:220393
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Panhypophysitis	Hyponatremia, Polydipsia, Hyposthenuria	ORPHA:95513
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren...	ORPHA:575
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia	OMIM:614866
Rabson-Mendenhall Syndrome	Long penis, Nephrocalcinosis, Hypokalemia, Polydipsia, Increased C-peptide level	ORPHA:769
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly...	ORPHA:3463
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal cortical gyration, Impaired T...	OMIM:614576
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia, Craniosynostosis	ORPHA:525731
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Melas	Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis	ORPHA:550
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased circulating I...	ORPHA:1304
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Chronic otiti...	ORPHA:169090
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce...	OMIM:608233
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteosclerosis, Chronic kid...	ORPHA:416
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A...	ORPHA:399
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Zttk Syndrome	Craniosynostosis, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Oropharyngeal squamous cell ca...	ORPHA:391487
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn...	OMIM:214500
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Hydroxyproli...	OMIM:239000
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large...	OMIM:301074
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia	ORPHA:99812
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Osteolytic defects of the...	OMIM:619127
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C...	OMIM:615895
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Mediastinal lymphad...	ORPHA:809
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas...	ORPHA:95409
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T c...	ORPHA:221139
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Renal phosphate wasting, Hypocalcemia, Hypopho...	ORPHA:352540
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ...	OMIM:235200
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:96149
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Whipple Disease	Hyponatremia, Polydipsia, Anorexia	ORPHA:3452
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocy...	ORPHA:508542
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho...	OMIM:620005
Dengue Fever	Hepatomegaly, Skin rash, Leukopenia, Ascites, Thrombocytopenia	ORPHA:99828
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa...	ORPHA:811
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Osteopenia, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp...	ORPHA:361
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ...	OMIM:277900
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent pneumon...	ORPHA:293978
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:3386
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe...	OMIM:267700
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis	OMIM:619423
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas...	OMIM:612541
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Mccune-Albright Syndrome	Hyperphosphaturia, Osteomalacia, Fibrous dysplasia of the bones, Renal phosphate wasting, Renal t...	ORPHA:562
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Enuresis, Self-injurious behavio...	ORPHA:293987
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar...	ORPHA:247353
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia...	OMIM:249000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Osteoporo...	ORPHA:168558
22Q11.2 Deletion Syndrome	Hypospadias, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, Vesicoureteral ...	ORPHA:567
Ogden Syndrome	Global glomerulosclerosis, Dysphagia, Hyperbilirubinemia, Polycystic kidney dysplasia, Abnormal r...	OMIM:300855
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium	ORPHA:231625
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Polyuria, Dysphagia	OMIM:606721
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Osteoporo...	ORPHA:289548
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ...	ORPHA:32960
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Recurrent...	OMIM:251260
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Addison Disease	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potassium, Renal salt wast...	ORPHA:85138
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Sta...	ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr...	ORPHA:90795
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Lujo Hemorrhagic Fever	Renal insufficiency, Elevated circulating C-reactive protein concentration, Oliguria, Dysphagia, ...	ORPHA:319213
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He...	ORPHA:3260
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Elevated hepati...	ORPHA:167
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Femoral-Facial Syndrome	Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology	OMIM:134780
Alg12-Cdg	Elevated hepatic transaminase, Partial absence of specific antibody response to Haemophilus influ...	ORPHA:79324
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia...	OMIM:260400
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Thr...	ORPHA:50918
Gaisböck Syndrome	Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia	OMIM:210710
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure	ORPHA:90051
Trisomy 13	Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis	ORPHA:3378
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ...	ORPHA:544482
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology, Glabellar hemangioma, Hashi...	OMIM:618223
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch...	OMIM:615846
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Urachal Cyst	Abdominal mass, Abscess, Leukocytosis, Peritonitis, Neoplasm	ORPHA:488
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ne...	ORPHA:369837
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Rickets, Reduced bone mineral density, Renal phosph...	ORPHA:89936
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin	ORPHA:53715
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Myositis, Testicular teratoma	ORPHA:764
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Acute Promyelocytic Leukemia	Hematuria, Addictive alcohol use, Anorexia	ORPHA:520
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope...	ORPHA:261494
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Meckel Syndrome, Type 7	Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney...	OMIM:267010
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Hennekam Syndrome	Benign neoplasm of the central nervous system, Pachygyria, Splenomegaly, Pulmonary lymphangiectas...	ORPHA:2136
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Acute Lung Injury	Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea...	ORPHA:178320
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma...	ORPHA:534
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, He...	ORPHA:99827
Methanol Poisoning	Hyperlipidemia, Addictive alcohol use	ORPHA:31825
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea...	ORPHA:565612
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Spondyloenchondrodysplasia With Immune Dysregulation	Sclerosis of skull base, Tubulointerstitial fibrosis	OMIM:607944
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Abnormal urine potassium concentration, H...	ORPHA:275761
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Joubert Syndrome 14	Renal cyst	OMIM:614424
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Intrahepatic cholestasis, Abno...	ORPHA:97280
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis	OMIM:257300
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst	OMIM:212065
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Pi...	ORPHA:97283
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, A...	ORPHA:97282
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep...	ORPHA:57777
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99829
Roberts-Sc Phocomelia Syndrome	Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney	OMIM:268300
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis	ORPHA:99776
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper...	ORPHA:653
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper ta...	ORPHA:73223
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464311
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi...	OMIM:266920
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464306
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:36238
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Alveolar Echinococcosis	Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst	ORPHA:284
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H...	ORPHA:90794
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Enl...	ORPHA:508
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Williams-Beuren Syndrome	Osteopenia, Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal rena...	OMIM:194050
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Renal cyst	OMIM:616300
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Addictive alcohol use	ORPHA:90065
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub...	ORPHA:904
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype...	ORPHA:116
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis	OMIM:229850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Hypospadias, Renal cyst	OMIM:616975
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria	ORPHA:699
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Schinzel-Giedion Syndrome	Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ...	ORPHA:798
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Hypercalciuria, Nephrolithiasis, Reduced bone mineral density, Osteolysis	ORPHA:652
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Osteogenesis Imperfecta	Osteopenia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Decreased skull ossification, Dysphagi...	ORPHA:666
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma...	ORPHA:818
Cranioectodermal Dysplasia 2	Renal insufficiency, Renal cyst	OMIM:613610
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Sarcoidosis	Renal insufficiency, Hypercalcemia, Bone cyst, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis,...	ORPHA:797
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Osteomalacia, Nephrocalcinosis, Abnormal calcification of the carpal bones, Hy...	ORPHA:51608
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis	ORPHA:1606
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Distal Deletion 15Q	Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias	ORPHA:1596
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
Hajdu-Cheney Syndrome	Multiple renal cysts, Hypospadias	ORPHA:955
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:991
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr...	ORPHA:3310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki...	OMIM:312870
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron...	ORPHA:709
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter...	ORPHA:199
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Renal cyst	ORPHA:744
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl...	OMIM:308205
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord...	ORPHA:2152
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho...	ORPHA:261552
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi...	OMIM:164210
Pallister-Killian Syndrome	Hypospadias, Renal dysplasia, Renal cyst	OMIM:601803
Pmm2-Cdg	Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mtss1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mtss1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Mtss1l^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Mtss1l^{tm1a(KOMP)Wtsi}	PMC6671969
Exercise-induced enhancement of synaptic function triggered by the inverse BAR protein, Mtss1L.	eLife (June 2019)	Mtss1l^{tm1a(KOMP)Wtsi} Mtss1L^{tm1a(KOMP)Wtsi}	PMC6609409
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Mtss1l^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Mtss1l^{tm1a(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Mtss1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mtss1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mtss1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Mtss1^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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