Gene Summary

Name:
spermatogenic leucine zipper 1
Synonyms:
1700027M20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
urinary bladder obstruction Spz1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Spz1em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Spz1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Spz1em1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Spz1em1(IMPC)Mbp HOM Early adult 0.00
cataract Spz1em1(IMPC)Mbp HOM   Early adult 1.89×10-08
increased red blood cell distribution width Spz1em1(IMPC)Mbp HOM Early adult 7.42×10-08
abnormal kidney morphology Spz1em1(IMPC)Mbp HOM Early adult 0.00
enlarged ovary Spz1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Spz1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Spz1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Spz1em1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Spz1em1(IMPC)Mbp HOM Early adult 1.48×10-06
increased neutrophil cell number Spz1em1(IMPC)Mbp HOM Early adult 5.66×10-06
small kidney Spz1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart shape Spz1em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Spz1 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.

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

The table below shows human diseases predicted to be associated to Spz1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ethanolaminosis
Cardiomegaly OMIM:227150
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ure... ORPHA:2869
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Polysplenia, Pancreatic cysts, B... OMIM:208540
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Orotic Aciduria
Hypochromia, Atrial septal defect, Hematuria, Ventricular septal defect, Folate-unresponsive mega... OMIM:258900
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic... OMIM:617303
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Cataract, Splenomegaly ORPHA:79238
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cataract, Urinary excretion of sial... OMIM:256550
Rabson-Mendenhall Syndrome
Atrial septal defect, Long penis, Ventricular septal defect, Enlarged ovaries, Increased pineal v... ORPHA:769
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic ... OMIM:608836
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, M... ORPHA:730
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Biliary cirrhosis, Abnormal salivary gland morphology, Glycosuria, Thrombocytop... ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctivitis, Anemia, ... OMIM:603552
Lcat Deficiency
Hemolytic anemia, Hematuria, Corneal opacity, Hepatomegaly, Splenomegaly, Renal insufficiency, Ly... ORPHA:650
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney, Abnormality of th... OMIM:613730
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Overgrowth of extern... ORPHA:508
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Opitz Gbbb Syndrome
Cryptorchidism, Atrial septal defect, Bifid scrotum, Abnormal heart morphology, Enlarged ovaries,... ORPHA:2745
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Astigmatism, Cardio... OMIM:617713
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Glomerular sclerosi... OMIM:276700
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:858
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Cardiomegaly, Ascites, Nephrotic syndrome OMIM:269920
H Syndrome
Abnormality of the kidney, Azoospermia, Microcytic anemia, Enlarged kidney, Histiocytosis, Decrea... ORPHA:168569
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormal heart morphology, Hepatic cysts, Abnormality of the te... ORPHA:400
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias, Renal... ORPHA:1046
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Ventricular septal defect OMIM:614876
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Patent foramen ovale, Enlarged kidney, Abnormal heart morphology, Heavy pro... ORPHA:505248
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Senior-Loken Syndrome
Nephronophthisis, Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic ... ORPHA:3156
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Polycystic ovaries, Thrombocytopenia... ORPHA:275555
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cardiomegaly, Anem... OMIM:618886
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomega... OMIM:130650
Congenital Fibrinogen Deficiency
Developmental cataract, Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy,... ORPHA:335
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract, Aminoaciduria ORPHA:2278
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Abnormality of the ... ORPHA:93476
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplas... ORPHA:1381
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Urinary bladde... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Mitral valve prolapse, Ventricular septal defec... ORPHA:500095
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... ORPHA:276280
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Galactosuria OMIM:230200
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Renal insufficie... ORPHA:79312
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Ascites, Enlarg... ORPHA:64739
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Cataract, Tetralogy of Fallot ORPHA:250994
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Neutropenia, Hepat... OMIM:232220
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomyopathy, Cardiomegaly, Nephropathy ORPHA:85447
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cardiomyopathy, Thrombocytopenia, Cataract, 3-Methylglutaconic aciduria ORPHA:67048
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis, Micropenis OMIM:268650
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... ORPHA:785
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Galactosemia I
Cirrhosis, Hemolytic anemia, Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Hepatome... OMIM:230400
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Tetragametic Chimerism
Cryptorchidism, Ambiguous genitalia, Abnormality of the ovary, Ovotestis, Abnormality of the scro... ORPHA:199310
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly,... OMIM:235200
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Carney Complex
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Ovarian cyst, Elevated c... ORPHA:1359
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypo... OMIM:602390
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Precocious puberty, Polycystic ovaries ORPHA:2229
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Sex reversal, Scrotal hypopla... OMIM:612651
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Brushfield spots, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hep... OMIM:614866
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Mulibrey Nanism
Myocardial fibrosis, Iris coloboma, Hepatomegaly, Nephroblastoma, Ascites, Cardiomegaly, Pericard... OMIM:253250
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Increased urinary p... OMIM:618892
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Elevated circulating luteinizing hormone level, Oligospermia... ORPHA:95699
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Abnormal heart morphology, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic s... ORPHA:370
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Refsum Disease, Classic
Abnormal renal physiology, Cataract, Cardiomegaly, Cardiomyopathy OMIM:266500
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Renal insuf... ORPHA:108
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ur... ORPHA:116
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Cowden Syndrome
Abnormality of the uterus, Goiter, Abnormal penis morphology, Endometrial carcinoma, Adenoma seba... ORPHA:201
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hepatomegaly, Decr... OMIM:232200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Cataract, Hypoplastic left heart,... ORPHA:2772
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Peters anomaly, Cardio... OMIM:618652
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Opacification of the corneal stroma, Card... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Anemia OMIM:606069
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Macroorchidism, postpubertal, ... ORPHA:91
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Nuclear cataract, Hepatomegaly, Cataract, Increased level of gala... ORPHA:79237
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Purple urine, Reticulocytosis, Erythroid hyperplasia, Keratoco... ORPHA:79277
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Hepatomegaly, Splenomegaly OMIM:615846
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sialidosis Type 2
Corneal opacity, Nephropathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splen... ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatom... ORPHA:398124
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Pancytopenia,... OMIM:606003
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine level in liver, Hepatomegaly, ... OMIM:212140
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Cataract, Pancreatitis, Dilated cardiomyopathy OMIM:618805
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Hyperthreoninuria, Cataract OMIM:204000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Abnormal testis morphology, Liver abscess, Abnormality of the pancreas... ORPHA:54251
Proteus Syndrome
Buphthalmos, Central heterochromia, Long penis, Ovarian neoplasm, Macroorchidism, Neoplasm of the... ORPHA:744
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Cataract, Splenomegaly OMIM:608885
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Crossed fused renal ectopia, Horseshoe kidney, Abnormal vagi... ORPHA:3097
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec... OMIM:602782
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Biliary tract abnormality, Hepatic fibrosis, Cataract, Vaginal atresia,... OMIM:209900
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Hardikar Syndrome
Patent foramen ovale, Hydroureter, Ventricular septal defect, Recurrent urinary tract infections,... OMIM:612726
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Glomerulopathy, Pancreatitis, Splenomegaly, ... ORPHA:2348
8P11.2 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Hemolytic anemia, Azoospermia, Iris coloboma, Splenomegaly,... ORPHA:251066
Laurence-Moon Syndrome
Cryptorchidism, Iris coloboma, Cataract, Congenital hepatic fibrosis, Hypoplasia of penis, Renal ... ORPHA:2377
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasi... ORPHA:1770
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Renal tubular acidosis, Cardiomegaly OMIM:255120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuria, Cholestasis, Hepatic fibrosi... ORPHA:264580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Micropenis OMIM:613091
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Gaucher Disease Type 1
Cirrhosis, Hematuria, Pericardial effusion, Biliary tract obstruction, Pancytopenia, Thrombocytop... ORPHA:77259
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries, Cataract, Decreased testicula... ORPHA:3085
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Cardiomegaly, Ventricular s... OMIM:115197
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Abnormal heart morphology, Aminoaciduria, Intrahepatic biliary ... OMIM:214110
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Fanconi Anemia, Complementation Group E
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Abnormal heart morphology, Hypergona... OMIM:600901
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Abnormality of the parathyroid gland, Splenom... ORPHA:2969
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Nephropathy, Cataract, Pulmonary lymphangiectasia, Renal insufficiency, Hy... OMIM:247410
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Cataract, Opacification of the corneal stroma, Splenome... OMIM:251290
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sp... ORPHA:829
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Griscelli Syndrome
Iris hypopigmentation, Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepa... ORPHA:381
Fanconi Anemia, Complementation Group A
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Abnormal heart morphology, Hypergona... OMIM:227650
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Abnormal renal morphology... ORPHA:1655
Galactosemia
Cryptorchidism, Cirrhosis, Hepatomegaly, Jaundice, Cataract, Ascites, Renal insufficiency, Abnorm... ORPHA:352
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Aminoaciduria, Sideroblastic anemia, B lymphocytopenia, Splenomega... OMIM:616084
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Aniridia, Abnormality of the uterus, Abnormal vagina morphol... OMIM:194072
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Renal cyst, Chronic kidney disease,... OMIM:617056
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Dica... OMIM:201475
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Splenomegaly... OMIM:616651
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ... ORPHA:39041
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Hydronephrosis, Hypospadias, Abnormal cardiac septum morphology OMIM:616449
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Fucosidosis
Vacuolated lymphocytes, Oligosacchariduria, Hepatomegaly, Cardiomegaly, Tortuosity of conjunctiva... OMIM:230000
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly, Cardiomyopathy ORPHA:90970
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Hypertrophic cardiomyopathy ORPHA:3173
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Keratoconjunctivitis sicca, Splenomegal... ORPHA:91138
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Mesenteric cyst, Ascites, Gonadal calcification, Ovarian f... ORPHA:314473
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Cach Syndrome
Renal hypoplasia, Cataract, Pancreatitis, Gonadal dysgenesis, Hepatosplenomegaly, Premature ovari... ORPHA:135
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Transketolase Deficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Increased level of ri... ORPHA:488618
Hypocomplementemic Urticarial Vasculitis
Hematuria, Abnormal heart valve morphology, Pericardial effusion, Glomerulopathy, Hepatomegaly, C... ORPHA:36412
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Ren... OMIM:609053
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Conjunctivitis, Splenomegaly, Lymphadenopathy OMIM:240500
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Cardiomyopathy, Neutropenia, Cataract, Renal cyst, Infection associated neutro... ORPHA:445038
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Enlarged kidney, Ventricular septal defect, Polysplenia, Cardiomyopathy, Hepatome... OMIM:312870
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Cholangiocar... ORPHA:465508
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hyper... ORPHA:79083
Immunodeficiency 32B
Splenomegaly OMIM:226990
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutropenia, Th... ORPHA:47612
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Tangier Disease
Hepatomegaly, Opacification of the corneal stroma, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxyl... ORPHA:42
Muckle-Wells Syndrome
Renal amyloidosis, Nephropathy, Hepatomegaly, Conjunctivitis, Splenomegaly, Anemia, Nephrotic syn... ORPHA:575
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Absence of renal cort... OMIM:259720
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Fucosidosis
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Poikiloderma With Neutropenia
Conjunctivitis, Neutropenia, Splenomegaly OMIM:604173
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Abnormality of the u... ORPHA:2795
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Hepatic steatosis, Renal tubular epithelial necrosis, He... ORPHA:228308
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Atrial septal defect, Hyperechogenic kidneys, Ventricular septal defect, Proximal tubu... OMIM:614576
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Free Sialic Acid Storage Disease
Iris hypopigmentation, Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Myocarditis, Lymphopenia, Jaundice, Hepatitis, Pancreatiti... ORPHA:549
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Precocious puberty in females, Ov... ORPHA:528
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Impaired neutrophil bactericida... OMIM:214500
Triploidy
Cryptorchidism, Ambiguous genitalia, Iris coloboma, Hepatomegaly, Cataract, Abnormality of the pa... ORPHA:3376
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Hypogonadism, Splenomegaly OMIM:201100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Ascites, Cardiomegaly, Hypospadias, Micropenis, Hypert... OMIM:616897
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Kayser-Fleischer ring, Thrombocytopenia, Jaundice,... ORPHA:905
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Bifid scrotum, Renal hypoplasia, Pancytopenia, Cataract, Renal dysplasia, Hypopla... ORPHA:85321
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pulmonic stenosis, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Bladder polyp, ... OMIM:175200
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Hypoplasia of penis ORPHA:1580
Juvenile Sialidosis Type 2
Abnormal heart morphology, Visceromegaly, Corneal opacity, Hepatomegaly, Cataract, Hepatosplenome... ORPHA:93399
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjunctival icterus, Chole... ORPHA:53035
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Alpha-Mannosidosis
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly ORPHA:61
Refsum Disease
Renal insufficiency, Cataract, Cardiomyopathy, Splenomegaly ORPHA:773
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Splenomegaly, Anemia, Orotic acid crystalluria, Orotica... ORPHA:30
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Pancreatic cysts, Developmental glaucoma, Cholestasis, Hepatic fibrosis, Hepatomegal... OMIM:610199
Proteus Syndrome
Lymphangioma, Limbal dermoid, Splenomegaly OMIM:176920
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Abnormality of the ... ORPHA:1772
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Abnormal heart valve morphology, Opacification of the corneal stroma, Sple... ORPHA:583
Zellweger Syndrome
Cryptorchidism, Brushfield spots, Ventricular septal defect, Clitoral hypertrophy, Posterior embr... ORPHA:912
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Uni... ORPHA:363444
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Punctate keratitis, Hepatomegaly, Hypereosinophilia, Keratoconjuncti... OMIM:617388
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Sialidosis Type 1
Corneal opacity, Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Splen... ORPHA:812
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... OMIM:228300
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Ventricular s... OMIM:269700
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Abnormal abdomen morphology, Unilateral renal agenesis, Hepatic fibr... OMIM:216360
Cronkhite-Canada Syndrome
Hepatomegaly, Cataract, Anemia, Splenomegaly ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Thyroid lym... OMIM:235255
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abnormality of the endometrium, Ascites, Gonadal calcifica... ORPHA:314478
Donohue Syndrome
Ovarian cyst, Long penis, Cholestasis, Hepatic fibrosis, Clitoral hypertrophy, Precocious puberty... OMIM:246200
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Hsd10 Disease, Infantile Type
Abnormality of the lower urinary tract, Abnormal concentration of acylcarnitine in the urine, Car... ORPHA:391428
Oculoskeletodental Syndrome
Cryptorchidism, Developmental cataract, Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Sple... OMIM:618440
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve stenosis, Hypersplenism,... OMIM:230800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Lens luxation, Multicystic kidney dysplasi... OMIM:120330
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Scrub Typhus
Renal insufficiency, Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Splenomegaly,... OMIM:608594
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Abnormal heart morphology, Corneal opacity, External genital hypoplasia, Cataract... ORPHA:1867
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Cataract, Papillary renal cell carcinoma type 2, Vaginal neoplasm, Uterine lei... ORPHA:523
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Nuclear cataract, Thrombocytopenia, Cataract, Elevated ur... OMIM:610377
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Nephropathy, Hepatomegaly, Keratoconjunctivitis sicca, Leukopenia... ORPHA:809
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatosplenomegaly OMIM:608013
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Atrial septal defect, Abnormal heart morphology, Renal hypoplasia, Ven... ORPHA:84064
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Glomerulopathy, Hepat... ORPHA:77297
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Chops Syndrome
Cryptorchidism, Horseshoe kidney, Cataract, Vesicoureteral reflux, Abnormal cardiac septum morpho... OMIM:616368
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Mccune-Albright Syndrome
Ovarian cyst, Renal phosphate wasting, Hyperplasia of the Leydig cells, Elevated circulating grow... ORPHA:562
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Chronic active hepatitis, Cholelithiasis, Keratoconjunctivitis, Female hypogon... OMIM:240300
Fanconi Anemia, Complementation Group C
Cryptorchidism, Horseshoe kidney, Ventricular septal defect, Hypergonadotropic hypogonadism, Dupl... OMIM:227645
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegal... ORPHA:540
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Spleno... ORPHA:90033
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Gaucher Disease Type 3
Hematuria, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Pan... ORPHA:77261
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Dermatan sulfate excretion in urine, Corneal opacity, Hepatomega... OMIM:253220
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, General... OMIM:251880
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Renal insufficiency, Car... ORPHA:699
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Familial Mediterranean Fever
Peritonitis, Pericarditis, Renal amyloidosis, Leukocytosis, Orchitis, Hepatomegaly, Nephrotic syn... OMIM:249100
Alport Syndrome 2, Autosomal Recessive
Hematuria, Anterior lenticonus, Corneal erosion, Thickened glomerular basement membrane, Cataract... OMIM:203780
Congenital Sialidosis Type 2
Developmental cataract, Abnormal heart morphology, Corneal opacity, Hepatomegaly, Cataract, Ascit... ORPHA:93400
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Abnormal heart valve morphology, Abnormality of the urinary system, Hepat... OMIM:230500
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:93474
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Cardiomyopathy ORPHA:3386
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular septal defect, Corneal opacity, Polycystic ovaries, Hepatomegaly,... ORPHA:137675
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Cardiomyopath... ORPHA:79086
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Q Fever
Hematuria, Pericarditis, Endocarditis, Abnormal heart valve morphology, Cholecystitis, Pericardia... ORPHA:781
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Renal hypoplasia, Lymphopenia, Unilateral renal agenesis, Cataract, Ectopic kidne... OMIM:616541
Hurler Syndrome
Endocardial fibroelastosis, Enlarged tonsils, Corneal opacity, Hepatomegaly, Opacification of the... OMIM:607014
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria OMIM:619259
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Lymphaden... ORPHA:169090