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Gene: Pstpip1 MGI:1321396

Gene Summary

Name:

proline-serine-threonine phosphatase-interacting protein 1

Synonyms:

def-2, CD2BP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal thymus morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
lordosis	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.29×10^-05
increased T-helper cell number	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.90×10^-05
decreased circulating potassium level	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	5.31×10^-05
abnormal kidney morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged liver	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta T cell number	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	4.18×10^-05
increased circulating total protein level	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.20×10^-06
abnormal liver morphology	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased kidney weight	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.84×10^-06
enlarged spleen	Pstpip1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Pstpip1 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 Pstpip1 (2 diseases)
Human diseases predicted to be associated with Pstpip1 (1070 diseases)

The table below shows human diseases associated to Pstpip1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne		Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Papa Syndrome		Increased circulating antibody level	ORPHA:69126

The table below shows human diseases predicted to be associated to Pstpip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno...	ORPHA:29073
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Lympho...	OMIM:267500
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca...	ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration...	OMIM:255600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp...	OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	ORPHA:408
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Cr...	OMIM:235255
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Short neck, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary ly...	ORPHA:1655
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Hypoalbumine...	ORPHA:90362
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Sandhoff Disease	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:796
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:280333
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Dengue Fever	Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond...	OMIM:600561
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Leptospirosis	Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Ele...	ORPHA:509
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Reduced natural kil...	OMIM:614493
Isolated Polycystic Liver Disease	Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cy...	ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Tho...	ORPHA:206546
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Renal insuf...	OMIM:276700
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:617054
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:62
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Pancreatic cysts, Thrombocytopenia, Abnormal sacrum morpholog...	ORPHA:464329
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Short neck, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Foca...	OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:615290
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase	ORPHA:75563
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen...	ORPHA:353
Dna2-Related Mitochondrial Dna Deletion Syndrome	Elevated creatine kinase after exercise, Hyperlordosis	ORPHA:352470
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Abnormal form of the vertebral bodies	ORPHA:1802
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Abnormally l...	OMIM:619374
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Rigid Spine Syndrome	Hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:97244
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Scoliosis, Lef...	OMIM:613156
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Myopathy, Distal, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Mildly eleva...	OMIM:160500
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to...	ORPHA:890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis	OMIM:611067
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia	ORPHA:28
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis	OMIM:619042
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Congenital Myopathy 16	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	OMIM:618524
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Short neck, Hepatic fibrosis, Polysplenia, Ascites, Cystic ren...	OMIM:200995
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Abnormal vertebral...	ORPHA:93476
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis	OMIM:161800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity	OMIM:609308
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hypoproteinemia, Hydronephrosis, A...	ORPHA:2315
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Nephroblastoma, Enlarged kidney	OMIM:618272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Abnormal circulating creatine kinase ...	ORPHA:369840
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Splenomegaly, Lymphadenopathy	ORPHA:56425
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Elevated hepatic...	ORPHA:167
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613818
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:618129
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613723
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy...	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma...	OMIM:615980
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:267
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Hepatomegaly	ORPHA:2204
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatiti...	ORPHA:79312
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi...	ORPHA:93352
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis	ORPHA:363454
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem...	ORPHA:369
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotra...	OMIM:227810
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Microscopic hematuria, Short neck, Min...	ORPHA:1830
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney, Short neck	OMIM:613885
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Kyphosis, Nephropathy, Ascites	ORPHA:87876
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypoproteinemia	OMIM:608093
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces...	ORPHA:400
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormality of the vertebral c...	ORPHA:52430
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Diastrophic Dysplasia	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae	OMIM:222600
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, H...	OMIM:232200
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Myasthenic Syndrome, Congenital, 14	Mildly elevated creatine kinase, Scoliosis, Hyperlordosis	OMIM:616228
Nemaline Myopathy 5C, Autosomal Dominant	Scoliosis, Hyperlordosis	OMIM:620389
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Scoliosis	ORPHA:557003
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Hydronephrosis, Micropenis, Decreased testicu...	OMIM:619185
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia, Renal tubular dysfunction, Neutropenia...	ORPHA:289916
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Platyspondyly, Scoliosis	OMIM:602271
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Mulchandani-Bhoj-Conlin Syndrome	Horseshoe kidney, Scoliosis, Hyperlordosis	OMIM:617352
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia	OMIM:611490
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin...	OMIM:600462
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Thrombocytopen...	ORPHA:505248
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Scolio...	ORPHA:86812
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc...	OMIM:606612
Immunodeficiency, Common Variable, 1	Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased proport...	OMIM:607594
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ...	ORPHA:829
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
King-Denborough Syndrome	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n...	OMIM:619542
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Renal hypoplasia, Abno...	OMIM:616817
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr...	ORPHA:251004
Ck Syndrome	Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Portal hypertension, H...	OMIM:613385
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618805
Hypochondroplasia	Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:429
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ...	OMIM:611881
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Nemaline Myopathy 2	Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis	OMIM:256030
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly	ORPHA:85414
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Myopathy, Centronuclear, 1	Mildly elevated creatine kinase, Hyperlordosis	OMIM:160150
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular hypertrophy, Elevated circulating creatine kinase concentration, Scoliosis, Hyp...	OMIM:253700
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind...	OMIM:607155
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffici...	ORPHA:1667
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Renal insufficiency, Ovoid vertebral bodies, Proteinuria, Sho...	OMIM:242900
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo...	ORPHA:31824
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:615156
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate am...	OMIM:619048
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:167320
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Hyperammonemia, Anemia, Leukopenia, Pancrea...	ORPHA:27
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,...	ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:613157
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopo...	OMIM:618440
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Decreased testicular size	ORPHA:3085
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Facioscapulohumeral Dystrophy	Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:269
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase	ORPHA:536516
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Elevated circul...	ORPHA:90038
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Hepatocellu...	ORPHA:79259
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ...	ORPHA:99642
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1797
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Hyperlordosis	ORPHA:157973
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol...	ORPHA:1159
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hyperammonemia	ORPHA:35
Wilson Disease	Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Splenomegaly, Jaun...	ORPHA:905
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Decreased circulating renin level	OMIM:613677
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly,...	ORPHA:77259
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia, Hyperlordosis	OMIM:619980
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphaden...	ORPHA:168569
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T...	OMIM:264180
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis	OMIM:618363
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc...	OMIM:252900
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:615673
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Scoliosis, Hyperlordosis	ORPHA:1387
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L...	ORPHA:277
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis	OMIM:613861
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar...	OMIM:252920
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Ascites	OMIM:608776
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Glomerulopathy, Splenomegaly, Me...	ORPHA:91138
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly	OMIM:618234
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:615704
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Congenital Myopathy 10B, Mild Variant	Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ...	OMIM:620249
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:98855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:611588
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi...	ORPHA:98863
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morpholo...	OMIM:314390
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Mucopolysaccharidosis, Type X	Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine, Platyspondyly, Posterior sca...	OMIM:619698
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Cryptorchidism, ...	OMIM:617053
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Hypokalemia, Adrenal hyperplasia, Hypercalciuria	ORPHA:251274
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Nephrolithiasis, Hypokalemia, Biconcave vertebral bodies, Vertebral ...	OMIM:219090
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Eosinophilia, Splenomegaly, Lymphadenopathy, Irregular v...	OMIM:616651
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:435387
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irregular v...	OMIM:226980
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal...	ORPHA:79237
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Increased serum...	OMIM:252500
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Urinary incontinence, S...	OMIM:617114
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Scoliosis, Hyperlordosis	OMIM:617760
Gm1 Gangliosidosis	Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Hepatosplenomegaly,...	ORPHA:354
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyphosis in infancy, Thorac...	ORPHA:3041
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l...	ORPHA:199343
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid...	ORPHA:98853
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hep...	OMIM:602579
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Thyroid C cel...	ORPHA:653
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Short neck, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly,...	OMIM:606003
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebral b...	OMIM:230500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Portal hyperten...	OMIM:610199
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Goiter	OMIM:188580
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho...	ORPHA:171436
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Schwartz-Jampel Syndrome, Type 1	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin...	OMIM:255800
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb...	OMIM:252930
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid...	ORPHA:57
Helix Syndrome	Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation	OMIM:184250
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Hyperlordosis	ORPHA:2511
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Proximal renal tubular acidosis, Hyperalaninemia	OMIM:266150
Aredyld Syndrome	Splenomegaly, Abnormality of the ureter, Scoliosis, Hepatomegaly	ORPHA:1133
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis	ORPHA:353327
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Short neck, Cryptorchidism, Elevated circulating creatinine concentration, Cholesta...	OMIM:608104
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin...	ORPHA:367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Three M Syndrome 1	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas...	OMIM:273750
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Goiter	OMIM:613239
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79332
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ...	ORPHA:750
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo...	ORPHA:175
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ...	OMIM:230800
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Pycnodysostosis	Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal...	ORPHA:763
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Thoracomelic Dysplasia	Hyperlordosis, Short neck	ORPHA:1803
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue hist...	OMIM:230600
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Kyphosis, Elev...	OMIM:615381
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ...	OMIM:216550
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Scoliosis, Nephroblastoma, Ovarian serous ...	ORPHA:276280
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:619451
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Adrenal hyperplasia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis	ORPHA:970
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:549
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Hypoca...	OMIM:259700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Spinal rigidity, Cardiomegaly, Hyperlordosis,...	ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,...	OMIM:617591
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis	OMIM:165800
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis	OMIM:162370
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Elevated hepatic transaminase, Renal insufficiency, Elev...	ORPHA:99826
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Familial Hyperaldosteronism Type I	Hypokalemia, Adrenal hyperplasia	ORPHA:403
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ...	ORPHA:465508
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Nephro...	OMIM:616026
Camurati-Engelmann Disease	Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral col...	ORPHA:1328
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret...	OMIM:607015
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:619719
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Elevated circulating alanine aminotransferase con...	OMIM:261680
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Cryptorchidism, Kyphosis, Scol...	ORPHA:568
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Hypokalemia, Nephrolithiasis, Decreased circulating renin level	OMIM:615474
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Adrenal hyperplasia, Nephrolithiasis	ORPHA:369929
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy, Anemia	ORPHA:575
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Renal cortical adenoma, Hypokalemia, Ovarian neoplasm	ORPHA:231632
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Familial Hyperaldosteronism Type Ii	Hypokalemia, Adrenal hyperplasia	ORPHA:404
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat...	OMIM:613179
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid...	OMIM:251110
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis	ORPHA:171876
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammo...	OMIM:606054
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Hepatomegaly, Block vertebrae, Renal agenesis, Cardiomegaly, Asplenia, Bil...	OMIM:306955
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto...	ORPHA:77297
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Abnormal T cell sub...	ORPHA:221139
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Scoliosis	OMIM:255310
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic ste...	ORPHA:2348
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function	ORPHA:79319
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Anemia, Bone mar...	ORPHA:47612
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H...	ORPHA:79083
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Mucopolysaccha...	ORPHA:584
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia	OMIM:619433
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,...	ORPHA:582
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L...	OMIM:253200
Autosomal Recessive Centronuclear Myopathy	Left ventricular hypertrophy, Hyperlordosis	ORPHA:169186
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Camptocormia, Renal insufficiency, Hyperkalemia, Renal hypoplasia...	OMIM:617595
Jansen-De Vries Syndrome	Hyperlordosis	OMIM:617450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Muscular Dystrophy, Duchenne Type	Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:310200
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci...	OMIM:612780
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Scoliosis	OMIM:612918
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Sialuria	Hepatomegaly, Splenomegaly, Hypoplastic nipples, Scoliosis, Increased level of N-acetylneuraminic...	OMIM:269921
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis	OMIM:618870
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, He...	ORPHA:156
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis	OMIM:114300
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Sialuria	Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, ...	ORPHA:3166
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased ...	ORPHA:90793
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis	OMIM:617821
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Three M Syndrome 3	Increased vertebral height, Hyperlordosis, Short neck	OMIM:614205
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Short neck, Periportal fibrosis, Hy...	ORPHA:79328
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hyperlordosis, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa...	ORPHA:508
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Lymphadenopathy, A...	ORPHA:99812
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Scoliosis, Hyperlordosis	ORPHA:1323
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co...	ORPHA:94093
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ...	OMIM:194080
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Mucopolysacchariduria	ORPHA:583
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Opsismodysplasia	Hypoplastic vertebral bodies, Splenomegaly, Abnormally ossified vertebrae, Hepatomegaly	ORPHA:2746
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoli...	ORPHA:2789
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr...	OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ...	OMIM:617796
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Decreased serum zinc, Decreased testicular size, Hepatomegaly	OMIM:201100
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma...	ORPHA:358
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hyperlordosis	ORPHA:3068
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo...	OMIM:263800
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheochromocytoma, Scoliosis, Parathy...	OMIM:162300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Scoliosis, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess...	OMIM:612541
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Short neck	OMIM:612921
Stiff-Person Syndrome	Lumbar hyperlordosis, Anemia	OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Scoliosis, Hyperlordosis	OMIM:300986
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:616007
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Ovoid vertebra...	OMIM:260400
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Testicular adrenal rest tumor, Polycystic ovaries, Hypokalemia, I...	ORPHA:90795
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev...	ORPHA:57777
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:370959
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Rabson-Mendenhall Syndrome	Enlarged ovaries, Long penis, Nephrocalcinosis, Hypokalemia, Increased pineal volume, Increased C...	ORPHA:769
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato...	OMIM:619418
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:435651
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy...	ORPHA:800
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Neutropenia in presence of anti-neutropil antibodies, Lack of T cell func...	ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methy...	OMIM:277380
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Abnormality of urine ho...	ORPHA:1501
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp...	ORPHA:1427
American Trypanosomiasis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphy...	OMIM:263700
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology	ORPHA:174
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyponatremia, Eosinophilia, Hypercalcem...	ORPHA:199299
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Hyperlordosis	ORPHA:3130
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, El...	ORPHA:365
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy...	ORPHA:457395
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Pancreatic cysts, Abno...	ORPHA:1318
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur...	ORPHA:573278
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten...	OMIM:615688
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Bifi...	ORPHA:500095
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis	ORPHA:254854
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Ogden Syndrome	Global glomerulosclerosis, Short neck, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, ...	OMIM:300855
Bethlem Myopathy	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity	ORPHA:610
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo...	ORPHA:85443
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros...	OMIM:207800
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti...	ORPHA:435660
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Decreased response to growth...	OMIM:619234
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
3Mc Syndrome	Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina...	ORPHA:293843
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch...	OMIM:615512
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Abnormal form ...	ORPHA:52
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Splenomegaly, Mucopolysacchariduria, Hepatomegaly	OMIM:272200
Biotinidase Deficiency	Splenomegaly, Organic aciduria, Hyperammonemia, Hepatomegaly	OMIM:253260
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve...	OMIM:271510
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Distal Deletion 10Q	Lumbar hyperlordosis, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicour...	ORPHA:96148
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperli...	OMIM:232240
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Sta...	ORPHA:2614
Smith-Mccort Dysplasia 2	Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck	OMIM:615222
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Hemorrhagic Fever-Renal Syndrome	Back pain, Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, ...	ORPHA:340
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia	OMIM:619053
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Hypokalemia, Congenital adrenal hyperplasia, Decreased testicular size, Decreased cir...	OMIM:202010
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Chromosome 10Q26 Deletion Syndrome	Lumbar hyperlordosis, Short neck, Cryptorchidism, Vesicoureteral reflux, Micropenis	OMIM:609625
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly	OMIM:616482
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,...	OMIM:272460
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Cryptorchidism, Hyperkalemia, Renal salt wasting	OMIM:614736
Arthrogryposis, Distal, Type 5D	Hyperlordosis, Scoliosis, Short neck	OMIM:615065
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Pfeiffer Syndrome	Hyperlordosis, Short neck	ORPHA:710
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614921
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor ...	OMIM:242700
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmo...	OMIM:618280
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Atlanto...	OMIM:607095
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Ascites, Lumbar hyperlordosis	ORPHA:2848
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Trichorhinophalangeal Syndrome Type 1	Scoliosis, Hyperlordosis	ORPHA:77258
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Prominent protruding coccyx, Hydronephrosis, Abnormal form of the vertebral...	ORPHA:2839
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno...	OMIM:608233
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter, Hyperlordosis	ORPHA:3253
Osteopathia Striata-Cranial Sclerosis Syndrome	Spina bifida occulta, Scoliosis, Hyperlordosis	ORPHA:2780
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Hematuria,...	OMIM:161200
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic...	OMIM:312870
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem...	ORPHA:469
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentra...	ORPHA:14
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,...	ORPHA:781
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Hyperl...	OMIM:615873
Roifman Syndrome	Decreased T cell activation, Eosinophilia, Decreased circulating antibody level	ORPHA:353298
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly	OMIM:215150
Martsolf Syndrome 1	Cryptorchidism, Thoracic scoliosis, Lumbar hyperlordosis, Micropenis	OMIM:212720
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis	ORPHA:171881
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cirrhosi...	ORPHA:79086
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Recurrent urinary tract infections, Hypospadias, Decreased response to growth horm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Recurrent urinary tract infections, Hypospadias, Decreased response to growth horm...	ORPHA:363958
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr...	ORPHA:1304
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Saethre-Chotzen Syndrome	Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:794
Ring Chromosome 12 Syndrome	Cryptorchidism, Glandular hypospadias, Lumbar hyperlordosis, Breast hypoplasia	ORPHA:1439
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,...	ORPHA:2785
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Scoliosis	OMIM:170390
Trichorhinophalangeal Syndrome, Type I	Scoliosis, Hyperlordosis	OMIM:190350
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Cryptorchidism, Hyperkalemia, Adrenocorticotropic ...	ORPHA:90791
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal f...	ORPHA:904
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lumbar hyperlordosis, Short neck, Cryptorchidism, Micropenis, Decreased testicular size	ORPHA:251028
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Sacral dimple, Thoracolumbar scoliosis, Portal hypertension, Hyperlordosis, Fet...	OMIM:619503
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hypocalcemic seizures, Anemia, Hepatomegaly	OMIM:612301
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Cryptorchidism, Lumbar hyperlordosis	OMIM:602471
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97280
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea...	OMIM:602782
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Abnormal sacroilia...	ORPHA:32960
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Scoliosis, Vesicoureteral reflux, ...	OMIM:616975
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Extrahepatic portal hypertension, Hepatic arteriovenous ...	ORPHA:2929
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Leukocytosis, Hyperkalemia, Oliguria, Decr...	ORPHA:544482
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Highly elevated creatine kinase, Scoliosis, Hyperlordosis	ORPHA:258
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Hyperkalemia...	OMIM:201810
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Short neck	ORPHA:171866
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Frontorhiny	Hypopituitarism, Lumbar hyperlordosis, Scoliosis	ORPHA:391474
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a...	ORPHA:423
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphade...	ORPHA:2136
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Achondroplasia	Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis...	OMIM:100800
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte...	OMIM:619636
Intellectual Developmental Disorder, Autosomal Dominant 29	Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis	OMIM:616078
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Adrenal hyperplasia, Jaundice, Hyperkalemia, Macroorchidism	ORPHA:90790
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Trichodermodysplasia-Dental Alterations Syndrome	Adenoma sebaceum, Scoliosis, Hyperlordosis	ORPHA:3353
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia, Adrenal hyperplasia	ORPHA:786
Addison Disease	Normocytic anemia, Hypoparathyroidism, Hyponatremia, Primary testicular failure, Hypercalcemia, R...	ORPHA:85138
Glycogen Storage Disease Of Heart, Lethal Congenital	Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin...	ORPHA:91347
Hallermann-Streiff Syndrome	Cryptorchidism, Scoliosis, Hyperlordosis	OMIM:234100
Desbuquois Dysplasia 2	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:615777
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc...	ORPHA:342
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Sacral dimple, Short neck, Hyperlordosis, Unilateral renal hypoplasia, Scoliosis, Macroorchidism	OMIM:619950
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Cryptorchidism	OMIM:305450
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au...	ORPHA:293978
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Lumbar hyperlordosis, Kyphosis, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:2232
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Cryptorchidism, Hyperkalemi...	ORPHA:361
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p...	OMIM:301000
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Thrombocytopenia	ORPHA:77261
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Digeorge Syndrome	Renal dysplasia, Pilonidal sinus, Renal insufficiency, Parathyroid agenesis, Unilateral renal age...	OMIM:188400
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Elevated circulating luteinizing hormone level, Renal salt wasting, Cryptorchidism,...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Elevated circulating luteinizing hormone level, Renal salt wasting, Cryptorchidism,...	ORPHA:289548
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondyloly...	OMIM:208400
Distal 22Q11.2 Microdeletion Syndrome	Recurrent urinary tract infections, Hyperlordosis	ORPHA:261330
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Kyphosis, Enlarged...	ORPHA:744
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/aplasia, Abnormal renal morphology, Granuloma, Sc...	ORPHA:363700
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis	OMIM:277600
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exo...	OMIM:219700
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorch...	OMIM:113620
Sponastrime Dysplasia	Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspo...	ORPHA:93357
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a...	OMIM:618131
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Scoliosis	OMIM:250420
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona...	OMIM:143095
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ...	OMIM:619534
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Splenomegaly, Scoliosis, Anterior beaking of lumbar vertebr...	ORPHA:93
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Scoliosis	ORPHA:522077
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:2020
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Decreased proportion of naive T cells, Oligoclonal T cell expansion, Decreased...	ORPHA:83471
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis	OMIM:608328
Iniencephaly	Absent vertebra, Renal agenesis, Hyperlordosis	ORPHA:63259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:607778
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Horseshoe kidney, Aplasia of the epiglottis, Hepatomegaly	OMIM:617088
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Lumbar hyperlordosis, Unilateral renal agenesis, Kyphoscoliosis, Bilateral re...	ORPHA:500150
Orotic Aciduria	Impaired T cell function	OMIM:258900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Hypocalciuria, Hypoplastic sweat glands, Hyperlordosis	ORPHA:73223
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Portal ...	OMIM:243800
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis	OMIM:618371
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Cryptorchidism, Vesicovaginal fistula, Hemivertebrae, Hyperkalemia, Ho...	OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Testicular adrenal rest tumor, Elevat...	ORPHA:90794
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia	ORPHA:286
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hypospadias, Hydroureter, Kyphoscoliosis, Renal hypoplasia/aplasia, Cryptor...	OMIM:309800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
22Q11.2 Deletion Syndrome	Impaired T cell function	ORPHA:567
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Papa Syndrome	Increased circulating antibody level	ORPHA:69126

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 Pstpip1

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 Pstpip1.

No publications found that use IMPC mice or data for Pstpip1.

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MGI Allele	Allele Type	Produced
Pstpip1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Pstpip1^{tm44607(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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Gene: Pstpip1 MGI:1321396

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Pstpip1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data