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Gene: Btg1 MGI:88215

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Gene Summary

Name:
BTG anti-proliferation factor 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Btg1em1(IMPC)Mbp HOM Early adult 2.50×10-06
increased mean corpuscular hemoglobin Btg1em1(IMPC)Mbp HOM Early adult 2.98×10-06
enlarged uterus Btg1em1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Btg1em1(IMPC)Mbp HOM   Early adult 6.46×10-06
decreased lymphocyte cell number Btg1em1(IMPC)Mbp HOM   Early adult 4.24×10-07
abnormal ovary morphology Btg1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Btg1em1(IMPC)Mbp HOM Early adult 0.00
increased basophil cell number Btg1em1(IMPC)Mbp HOM   Early adult 2.09×10-05
enlarged ovary Btg1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Btg1em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Btg1em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Btg1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Btg1em1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular volume Btg1em1(IMPC)Mbp HOM Early adult 1.48×10-05

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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Btg1 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 Btg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... OMIM:619902
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Immunodeficiency 88
Eosinophilia OMIM:619630
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... OMIM:619802
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the tes... ORPHA:400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous... OMIM:618999
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... ORPHA:353298
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, In... OMIM:612562
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... ORPHA:2578
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Abnormality of the li... ORPHA:2169
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries... ORPHA:2298
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... ORPHA:169160
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E... OMIM:613885
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Septate vagina, Dextrocardia,... OMIM:608978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia... OMIM:304790
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Abnormality o... ORPHA:275555
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... OMIM:619774
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Anemia, Leukopenia, Hypertrophic cardiomyopathy, Nephrot... OMIM:617303
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Ventricular septal defect, Pure red cell aplasia, Renal agen... ORPHA:124
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... ORPHA:300298
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Ventricular septal defect, Cryptorchidism, Vesicour... ORPHA:2745
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Nephrocalcinosis, Ca... ORPHA:769
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
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
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... OMIM:193670
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis OMIM:247800
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Abnormal vagina morphology, Anemia, ... ORPHA:2123
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly OMIM:617388
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ... ORPHA:2035
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Pgm3-Cdg
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... ORPHA:443811
Eosinophilic Gastroenteritis
Leukocytosis, Ascites, Eosinophilia, Anemia ORPHA:2070
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne... ORPHA:139402
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia OMIM:277410
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... ORPHA:261250
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess OMIM:618282
H Syndrome
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, H... ORPHA:168569
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... ORPHA:3411
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Thicke... OMIM:146255
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R... OMIM:276700
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, Neutropenia, L... OMIM:615816
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Polycyst... ORPHA:79259
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Ventricular septal defect, Eosinophilia, Pancreatic cyst... OMIM:274000
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Microphthalmia, Syndromic 9
Renal malrotation, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic lef... OMIM:601186
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
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
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal... ORPHA:505248
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia OMIM:613101
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Eosinophilia, ... ORPHA:183
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... ORPHA:1756
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Aspergillosis
Abnormality of the kidney, Hepatitis, Eosinophilia, Neutropenia ORPHA:1163
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis ORPHA:449400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly OMIM:608540
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te... ORPHA:335
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... ORPHA:276280
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros... ORPHA:449432
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti... ORPHA:79312
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... ORPHA:314478
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... ORPHA:314473
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... OMIM:602390
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, Renal insufficiency, Eosinophilia, Abscess, Abnormality ... ORPHA:228123
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve p... OMIM:606408
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc... ORPHA:108
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Donnai-Barrow Syndrome
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Proteinuria ORPHA:2143
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... OMIM:620210
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... ORPHA:3260
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... OMIM:618495
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral renal agenesis, Hyperech... OMIM:617914
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenes... ORPHA:2237
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Renal dysplasia OMIM:191830
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... ORPHA:83628
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, ... ORPHA:508533
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Immunodeficiency 95
Lymphopenia OMIM:619773
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... ORPHA:199299
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe... ORPHA:116
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:86893
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... OMIM:606003
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepa... ORPHA:2348
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... ORPHA:201
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... OMIM:175200
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... ORPHA:2438
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... OMIM:616258
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... ORPHA:264580
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect... ORPHA:3097
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Netherton Syndrome
Hypereosinophilia OMIM:256500
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru... OMIM:154230
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u... ORPHA:3320
Mucoepithelial Dysplasia, Hereditary
Hematuria, Cor pulmonale, Eosinophilia OMIM:158310
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... OMIM:612651
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary ORPHA:247768
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... ORPHA:93111
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca... OMIM:232200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Parotitis, Eosinophilia, Portal hypertension... ORPHA:797
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... OMIM:618624
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:2584
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ovaries, Renal tubular acidosis, H... ORPHA:79240
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Eisenmenger Syndrome
Hepatomegaly, Brain abscess, Renal insufficiency, Ventricular septal defect, Tetralogy of Fallot,... ORPHA:97214
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... ORPHA:398124
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Igg4-Related Pachymeningitis
Eosinophilia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s... ORPHA:79083
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... ORPHA:347
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa... OMIM:235200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,... OMIM:612541
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Septate vagina, Valvular pulmonary... OMIM:300707
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... ORPHA:1770
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... ORPHA:99429
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Orchitis, Abnorma... ORPHA:449563
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th... ORPHA:290
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Renal agenesis, Cryptorchidism, Complete atrioventricula... OMIM:264480
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Endomet... OMIM:613680
Incontinentia Pigmenti
Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp... OMIM:308300
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horseshoe kidney, Abnormal c... ORPHA:140952
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... ORPHA:99776
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Cryptorchidi... OMIM:258040
Microsporidiosis
Brain abscess, Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract ... ORPHA:2552
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... OMIM:260400
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Anemi... ORPHA:77259
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... OMIM:252500
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th... ORPHA:991
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... ORPHA:562
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Hand-Foot-Genital Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... OMIM:140000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, An... ORPHA:47612
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... ORPHA:528
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Proteinuria,... ORPHA:411709
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Neph... OMIM:269700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Donohue Syndrome
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... OMIM:246200
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis... ORPHA:829
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia... ORPHA:84
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, ... OMIM:617053
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter OMIM:158350
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Endometriosis, Unilat... ORPHA:363444
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Immunodeficiency 44
Lymphopenia OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto... ORPHA:77297
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Septate vagina, Per... OMIM:176450
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Incontinentia Pigmenti
Eosinophilia, Supernumerary nipple ORPHA:464
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney ... OMIM:242900
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Pros... ORPHA:99867
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, L... ORPHA:93552
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormal hemoglobin... ORPHA:847
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect OMIM:145420
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... OMIM:230800
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... ORPHA:540
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Hypospadias, Ventricular septal defect, Supernumerary nipple,... OMIM:312870
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... OMIM:615873
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o... OMIM:608594
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bi... ORPHA:2059
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasting, Increa... ORPHA:90795
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:3162
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp... OMIM:216360
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... ORPHA:906
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Bicornuate uterus, Ventricular septal defect, Proteinuria OMIM:222448
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... ORPHA:905
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Oligozoospermia, Abnormal T cell morphol... ORPHA:330015
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Renal agenesis, Cryptorchidism, Reduced alpha/beta synthe... OMIM:301040
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic lab... OMIM:269150
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Renal insufficiency, Portal hyp... ORPHA:171
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Hypoplasminogenemia
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Cholestasis, Lym... OMIM:615895
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis, Polycystic ovaries OMIM:604367
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Stage 5 ... ORPHA:1830
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy, Renal hypoplas... OMIM:616541
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... OMIM:229850
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... OMIM:619769
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:168558
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u... ORPHA:760
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... ORPHA:289548
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Pe... OMIM:270400
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... OMIM:603553
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hep... ORPHA:79086
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia ORPHA:958
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:809
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Polycystic ovaries, Mitral... ORPHA:371428
46,Xx Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous genitalia, ... ORPHA:243
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pericarditis, Lymphadenopathy, Hepatomegaly ORPHA:85414
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... OMIM:200980
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia OMIM:616395
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Pancreatitis OMIM:610475
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Decreas... ORPHA:90362
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P... ORPHA:280365
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Renal malrotation, Decreased response to growth hormone stimulation test OMIM:615866
Bardet-Biedl Syndrome 1
Decreased testicular size, Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis... OMIM:209900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Single... OMIM:619879
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Neutropenia, Cervix cancer, L... ORPHA:51636
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hypertension, Splenomegaly, Leukocytosi... OMIM:615688
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Unilateral... OMIM:188400
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... OMIM:608233
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... OMIM:260920
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... ORPHA:508542
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Renal hypoplasia... OMIM:620005
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Brucellosis
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epididymitis, Ly... ORPHA:1304
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... ORPHA:1775
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,... ORPHA:3138
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
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
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Renal hypoplasia/aplasia ORPHA:1788
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly OMIM:612852
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... ORPHA:391487
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... OMIM:618460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... OMIM:222700
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin... OMIM:130050
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Ventricular sept... OMIM:107480
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... OMIM:249000
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... OMIM:300972
Short Syndrome
Ovarian cyst OMIM:269880
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia majora, Bi... OMIM:263650
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leuk... ORPHA:96253
Vici Syndrome
Atrial septal defect, Left ventricular hypertrophy, Dilated cardiomyopathy, Leukopenia, T lymphoc... OMIM:242840
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... OMIM:610199
Rhombencephalosynapsis
Abnormal renal morphology, Abnormality of the uterus ORPHA:59315
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Abnormality of the kidne... ORPHA:289390
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute... ORPHA:29073
Fraser Syndrome 1
Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog... OMIM:219000
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries ORPHA:137675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur... ORPHA:90041
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... OMIM:619472
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis OMIM:151660
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Re... ORPHA:2052
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, L... ORPHA:50918
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Familial Mediterranean Fever
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis... ORPHA:342
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fibrosis, Polycys... OMIM:311200
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of the tonsils, Ventricular septal defect, Abnormal ... ORPHA:567
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto... ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Lymphopenia, Rectovaginal fistula OMIM:619708
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Micropenis, Pelvic kidney, ... OMIM:619503
Ataxia-Telangiectasia
Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Abnormal spermatogenesis, H... OMIM:208900
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va... OMIM:617088
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Fusariosis
Brain abscess, Lung abscess, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, A... ORPHA:228119
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... OMIM:263700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis OMIM:154400
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Euthyroid multinodular goi... ORPHA:1359
Hennekam Syndrome
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors... ORPHA:2136
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Generalized Pustular Psoriasis
Renal insufficiency, Leukocytosis, Lymphopenia ORPHA:247353
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Crypt... ORPHA:438213
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... ORPHA:857
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le... ORPHA:79277
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... ORPHA:93271
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Neu-Laxova Syndrome 1
Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Transposition of the gre... OMIM:256520
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Ventricular septal defect, Cryptorchidism, ... OMIM:268300
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
7Q11.23 Microduplication Syndrome
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Enuresis, Apla... ORPHA:96121
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... ORPHA:904
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular se... OMIM:261540
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Abnormal salivary gla... ORPHA:2363
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Renal insufficiency, Orchitis, Jaundice, Neutrophilia... ORPHA:99826
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia,... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia,... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/aplasia,... ORPHA:881
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Bil... OMIM:194190
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri... OMIM:214800
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Renal hypopl... OMIM:135900
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Ventricular septal defect OMIM:123700
Dermatomyositis
Myocarditis, Pericarditis, Abnormal eosinophil morphology ORPHA:221
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove... ORPHA:672
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Ventricular septal defect, Portal hypertension, Septate vagina, Urethr... OMIM:243800
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Renovascular hypertensio... ORPHA:286
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Renal ... ORPHA:199
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Cervical insufficiency, Bladder diverticulum, Tricuspid valve prolapse, Ut... ORPHA:287
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Abnormal heart morphology, Pulmonic stenosis, Left ventricular hypertrophy, Abn... ORPHA:284984
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Uterine prolapse, Bicuspid aortic valve, Cystocele... OMIM:613795
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Rena... OMIM:601803
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600

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 Btg1

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 Btg1.

No publications found that use IMPC mice or data for Btg1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Btg1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Btg1em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Btg1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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