Gene Summary

phosphoglucomutase 3
2810473H05Rik,  Pgm-3,  GlcNAc-P mutase

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
impaired glucose tolerance Pgm3em1(IMPC)Hmgu HET   Early adult 1.54×10-05
preweaning lethality, complete penetrance Pgm3em1(IMPC)Hmgu HOM   Early adult 1.79×10-07

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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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pgm3 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.

The table below shows human diseases associated to Pgm3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pgm3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Chronic diarrhea, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis... OMIM:615285
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia OMIM:247800
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 104
Gastroesophageal reflux, Oral ulcer, Diarrhea, T lymphocytopenia, Eczema, Recurrent otitis media,... OMIM:608971
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, Recurrent ... OMIM:615559
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Leukocyt... OMIM:612840
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Immunodeficiency 76
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... OMIM:619164
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chronic diarrhea, Granuloma, Chilblains, Membranoproliferative glomerulonephrit... OMIM:619858
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis, Bloody diarrhea OMIM:619398
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... OMIM:152700
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Eosinophilia, Abnormality of the gingiva, Thrombocytopenia ORPHA:517
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Erythroderma, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Ec... OMIM:304790
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Hypogonadism, Increased HbA2 hemoglobin, Ele... ORPHA:231222
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Folate Malabsorption, Hereditary
Leukopenia, Oral ulcer, Diarrhea, Malabsorption, Thrombocytopenia, Neutropenia, Folate-responsive... OMIM:229050
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Oral ulcer, Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Throm... OMIM:616744
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal natural killer ce... OMIM:615617
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Persistence of primary teeth, Extramedullary hematopoie... OMIM:259710
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin... OMIM:263300
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Chronic oral candidia... OMIM:150550
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Immunodeficiency 69
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Intermittent diarrhea, Renal insufficiency, Nephrotic syndrome, Neutro... OMIM:619644
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thrombocytopenia, Splenom... OMIM:613101
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Lymphadenopathy,... OMIM:615513
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... OMIM:607665
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Proteinuria, Thrombocytopenia ORPHA:2134
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Anemia, Neutropenia, Splenomegaly OMIM:602079
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle l... OMIM:618806
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:124900
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... OMIM:618204
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Diarrhea, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased m... ORPHA:231226
Fetal Parvovirus Syndrome
Ascites, Anemia, Thrombocytopenia ORPHA:295
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal s... ORPHA:100025
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Isolated Agammaglobulinemia
Anemia, Diarrhea, Malabsorption, Skin rash, Inflammatory abnormality of the eye, Arthritis, Abnor... ORPHA:229717
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Hydrocele testis, Cleft palate, Thrombocytopenia, Neutropenia OMIM:616738
Leukopenia, Anemia, Abnormal oral cavity morphology, Abnormal macrophage morphology, Pancytopenia... ORPHA:507
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... ORPHA:848
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Diarrhea, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, ... ORPHA:231214
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Eo... OMIM:618999
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Abnormality of the kidney, Enlarged l... ORPHA:449432
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Everted upper lip vermilion, B lymphocytopenia, Decreased proportion of CD8-positive, alp... OMIM:619824
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... OMIM:603554
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Anemia, Thrombocytopenia ORPHA:673
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, T lymphocytopenia, B lymphocytopenia, Inflammatory abnormality of the skin, Lymphopenia... ORPHA:277
Congenital Toxoplasmosis
Anemia, Diarrhea, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad... ORPHA:100026
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Enterocolitis, Villous atrophy, Pancytopenia, Episodic... OMIM:616050
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Systemic Lupus Erythematosus 17
Leukopenia, Malar rash, Myelitis, Oral ulcer, Lymphopenia, Autoimmune thrombocytopenia, Optic neu... OMIM:301080
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Nephrotic syndrome, Renal interstitial amy... ORPHA:85443
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormality of the clitoris, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Malar rash, Nephrotic syndrome, Co... OMIM:603909
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Recurrent s... ORPHA:443811
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Renal insufficiency, Nephritis ORPHA:3327
Autoinflammation With Episodic Fever And Lymphadenopathy
Oral ulcer, Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity ORPHA:318
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Cyclic Neutropenia
Gingivitis, Oral ulcer, Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Decreased eo... ORPHA:2686
Idiopathic Non-Lupus Full-House Nephropathy
Oral ulcer, Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, ... ORPHA:567544
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Bernard-Soulier Syndrome
Thrombocytopenia, Gingival bleeding, Menorrhagia, Giant platelets, Gastrointestinal hemorrhage, M... OMIM:231200
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Stage 5 chronic kidney disease, Microdontia, Hypodontia, Min... ORPHA:1830
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... OMIM:615518
Septic arthritis, Brain abscess, Prostatitis, Abnormal parotid gland morphology, Liver abscess, H... ORPHA:31202
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, H... OMIM:301078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Diarrhea, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Oti... OMIM:601457
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczema OMIM:614493
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Chronic diarrhea OMIM:616740
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Jaundice, Steatorrhea, Hepatic steatosis, Giant cell hepatitis, Hepatomegaly, ... ORPHA:79303
Anemia ORPHA:655
Leukopenia, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:108
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly, Ascites, Abnormal vagina morphology ORPHA:2123
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob... ORPHA:158057
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Secondary amenorrhea, Hepatomegaly, Splenomegaly OMIM:613313
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Transcobalamin Deficiency
Acute kidney injury, Pancytopenia, Lymphopenia, Thrombocytopenia, Methylmalonic aciduria, Neutrop... ORPHA:859
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... OMIM:619151
Hyperlysinemia, Type I
Anemia OMIM:238700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Dental malocclusion, Anemia, Extramedullary hematopoiesis OMIM:259730
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:618116
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large... OMIM:619281
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutrop... OMIM:613501
Immunodeficiency, Common Variable, 1
Conjunctivitis, Diarrhea, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neut... OMIM:607594
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Osteopetrosis, Autosomal Recessive 5
Anemia, Long philtrum, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocyto... OMIM:259720
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency 62
Bronchiectasis, Increased proportion of transitional B cells, B lymphocytopenia, Autoimmune throm... OMIM:618459
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Diarrhea, B lymphocytopenia, T lymphocytopenia, Perianal absce... OMIM:618108
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis ORPHA:27
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Skin rash, Impaired lympho... OMIM:300400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, Chronic diarrhea, T lymphocytopenia, Erythroderma, Lymphocytosis, Decreased proportio... ORPHA:169154
Conjunctivitis, Anemia, Brain abscess, Oral ulcer, Erythema nodosum, Skin rash, Inflammatory abno... ORPHA:3392
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis ORPHA:289916
Hemochromatosis, Type 3
Anemia, Cirrhosis, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Amenorrhea OMIM:604250
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Diarrhea, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria,... ORPHA:54057
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positiv... OMIM:300853
Aggressive Systemic Mastocytosis
Anemia, Diarrhea, Malabsorption, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy... ORPHA:98850
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutropenia, Hydroneph... OMIM:598500
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Polyc... OMIM:608709
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Narrow mouth, Thin vermilion border, Ascites, Splenomegaly ORPHA:1046
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Achalasia, Impotence, Dysphagia OMIM:615750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Eczema, Myositis, Abnormal intestine morphology, Gastritis, Rec... ORPHA:37042
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly OMIM:231000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Oral ulcer, Chronic diarrhea, B lymphocytopenia, Generalized lymphadenopathy, Lym... OMIM:602450
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Renal insuffic... OMIM:613779
Specific Granule Deficiency 2
Conical tooth, Anemia, Absent neutrophil specific granules, Intractable diarrhea, Amelogenesis im... OMIM:617475
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Anteriorly placed anus, Throm... OMIM:618624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Osteopetrosis, Autosomal Dominant 3
Gingivitis, Anemia, Hyperparathyroidism, Hepatomegaly, Premature loss of teeth, Splenomegaly OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Goiter OMIM:274240
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology, Renal amyl... ORPHA:314652
Acute kidney injury, Abnormality of the kidney, Polycystic ovaries, Abnormality of the hepatic va... ORPHA:275555
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency 40
Intermittent diarrhea, Rectal fistula, T lymphocytopenia, Chronic oral candidiasis, Interstitial ... OMIM:616433
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Rec... ORPHA:217390
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, T lymphocytopenia,... OMIM:619510
Immunodeficiency 27A
Anemia, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosi... OMIM:209950
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Hepatomega... OMIM:619463
Intermediate Osteopetrosis
Dental malocclusion, Anemia, Abnormality of dental morphology, Hepatosplenomegaly, Thrombocytopen... ORPHA:210110
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Diarrhea, Abn... ORPHA:54251
Transaldolase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Wide mouth, Deep philtrum, Short philtrum, Pancytopenia, Hep... OMIM:606003
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Stuve-Wiedemann Syndrome 2
Eczema, Stillbirth, Dysphagia, Thrombocytopenia, Neonatal death OMIM:619751
Immunodeficiency 23
Esophageal stricture, High palate, Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, L... OMIM:615816
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... OMIM:618534
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Thrombocytopenia, Hepatomegaly OMIM:614727
Reticular Dysgenesis
Leukopenia, Anemia, Diarrhea, Aplasia/Hypoplasia of the thymus, Malabsorption, Abnormality of neu... ORPHA:33355
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Letterer-Siwe Disease
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia OMIM:246400
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... ORPHA:331206
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Igg4-Related Retroperitoneal Fibrosis
Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney injury, Normocytic anemi... ORPHA:49041
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Oral leukoplakia, Throm... OMIM:613987
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Oral ulcer, Scleritis, Acute kidney in... ORPHA:93126
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Vomiting, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin conce... ORPHA:35858
Leukemia, Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Imbalanced hemo... ORPHA:99867
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorc... OMIM:249270
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Pancyt... ORPHA:2585
Bacterial Toxic-Shock Syndrome
Septic arthritis, Diarrhea, Fasciitis, Myositis, Glomerulonephritis, Recurrent skin infections, T... ORPHA:36234
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver ORPHA:69077
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Hepatitis, Skin rash, Arthritis, Malabsorpti... ORPHA:47
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Immunodeficiency 70
Achalasia, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinu... OMIM:618969
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Menorrhagia, Giant platelets, Proteinuria, Congenita... ORPHA:182050
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Sengers Syndrome
Thrombocytopenia OMIM:212350
Isovaleric Acidemia
Leukopenia, Vomiting, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Hepatosplenomegaly, Extramedullary hematopoiesis, Gingival overgrowth, Clitoral hype... ORPHA:313855
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Braddock-Carey Syndrome 2
Cleft palate, Thrombocytopenia, Pierre-Robin sequence, Wide mouth OMIM:619981
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Fetal Gaucher Disease
High palate, Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Immunodeficiency 48
Diarrhea, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic diarrhea, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Skin rash, L... OMIM:102700
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Chronic sinusitis, Recur... OMIM:612692
Tufted Angioma
Hemangioma of the lip, Anemia, Thrombocytopenia ORPHA:1063
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, T lymphocytopenia, B lymphoc... OMIM:612260
Wilson Disease
Anemia, Cirrhosis, Hepatitis, Jaundice, Abnormality of the menstrual cycle, Hepatic steatosis, Ac... ORPHA:905
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Menorrhagia, T... OMIM:139090
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow hypocellularity, Abnor... ORPHA:210136
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism OMIM:615597
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Stomatitis, Pancytopenia, Metrorrhagia, Lymphadenopathy, Gingival bleeding, L... ORPHA:520
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Asplenia, Anemia ORPHA:3204
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, Skin rash, Nephritis, Pol... ORPHA:2298
Hereditary Folate Malabsorption
Gastroesophageal reflux, Megaloblastic anemia, Diarrhea, Glossitis, Pancytopenia, Eosinophilia, T... ORPHA:90045
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Pyloric stenosis, Intestinal malrotation, Intesti... OMIM:300048
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Erythroderma, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, De... OMIM:606367
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... OMIM:242700
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... OMIM:312863
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent aphthous stomatitis, T lymphocytopenia, B lymphocytopenia, Long philtrum, Thin upper li... OMIM:615966
Felty Syndrome
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Pericarditis, Recurre... ORPHA:47612
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Gingival bleeding, Thromboc... ORPHA:88
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Lymphatic Filariasis
Hypereosinophilia, Vaginal hydrocele, Abnormality of the scrotum, Lymphadenitis, Lymphangiectasis... ORPHA:2035
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chronic diarrhea, Thro... OMIM:614700
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Pyloric stenosis, Abnormality of neutrophils, Lymphadenopathy, B... ORPHA:381
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Congenital Rubella Syndrome
Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... ORPHA:289390
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Keratoconjun... ORPHA:79078
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Steatorrhea, Carious teeth, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of ... OMIM:612714
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Autoimmune hemolytic anemia, Recurrent p... OMIM:616576
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells OMIM:613500
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, High palate, Chronic kidney disease ORPHA:2172
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Relapsing Fever
Leukopenia, Anemia, Vomiting, Diarrhea, Acute kidney injury, Jaundice, Neutrophilia, Hematuria, L... ORPHA:91547
Immunodeficiency 92
Chronic diarrhea, Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholan... OMIM:619652
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Long philtrum ORPHA:2598
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Menorrhagia, Thrombocyt... OMIM:617443
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Nephrotic syndrome, Stage 5... OMIM:616730
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Thrombocytopenia, Micropenis, Amenorrhea OMIM:606593
Immunodeficiency 17
T lymphocytopenia, Abnormal B cell morphology, Chronic oral candidiasis, Decreased proportion of ... OMIM:615607
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Cholestasis, Hepat... ORPHA:398124
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Diarrhea ORPHA:49827
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental enamel morphology ORPHA:2325
Galloway-Mowat Syndrome 2, X-Linked
High palate, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephriti... OMIM:301006
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Shwachman-Diamond Syndrome 2
High palate, Diarrhea, Normocytic anemia, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, Exo... OMIM:617941
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, T lymphocytopenia, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Scle... ORPHA:572
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Lym... OMIM:618048
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Leukopenia, Methylmalonic aciduria, Vomiting, Stage 5 chronic kidne... OMIM:251000
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hep... ORPHA:2137
Mirage Syndrome
Leukopenia, Anemia, Esophageal stricture, Achalasia, Chronic diarrhea, Gastroesophageal reflux, S... OMIM:617053
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Vomiting, Long philtrum, Diarrhea, Thrombocytopenia, Cholestasis, Hepatomegaly, Protein-l... OMIM:608104
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Abnormal lymph node morphology, Diarrhea, Abnormal testis morphology, Hepa... ORPHA:85450
Pediatric Systemic Lupus Erythematosus
Leukopenia, Malar rash, Vomiting, Renal insufficiency, Diarrhea, Oral ulcer, Nephrotic syndrome, ... ORPHA:93552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Peptic ulcer, Myeloid leukemia, Increased basophil count, Chronic lymphat... ORPHA:98849
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Ebola Hemorrhagic Fever
Leukopenia, Vomiting, Diarrhea, Hepatitis, Lymphopenia, Acute pancreatitis, Nausea, Gastrointesti... ORPHA:319218
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... ORPHA:158061
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Amelogenesis imperfecta OMIM:612783
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Wolman Disease
Anemia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Hemochromatosis, Type 4
Anemia, Cirrhosis, Impotence, Hepatic steatosis, Hepatomegaly OMIM:606069
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Lysinuric Protein Intolerance
Hyperlysinuria, Diarrhea, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Arg... ORPHA:470
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Diarrhea, Recurrent aspiration pne... ORPHA:79124
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Perlman Syndrome
Nephroblastoma, Broad alveolar ridges, Hypoplasia of penis, Abnormal upper lip morphology, Hepato... ORPHA:2849
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Esophageal stricture, Urethral stricture, Pancytopenia, Thrombocyto... OMIM:613989
Pelger-Huet Anomaly
Abnormality of the dentition, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutr... OMIM:169400
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Oral ulcer, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcera... OMIM:618935
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of the tongue, Bone mar... OMIM:618849
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 1
Gingivitis, Cirrhosis, Oral ulcer, Hemolytic anemia, Diarrhea, Hepatitis, Sclerosing cholangitis,... OMIM:308230
Boutonneuse Fever
Leukopenia, Renal insufficiency, Diarrhea, Skin rash, Lymphadenopathy, Nausea, Cervical lymphaden... ORPHA:83313
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Oral mucosal blisters ORPHA:79402
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Thrombocytopenia, Seborrheic dermatitis, Absent circulating B cells OMIM:619693
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,... OMIM:112200
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Long philtrum, Nephrotic syndrome, Chronic constipation, Glomerular sclerosis, Glomerulonephritis... OMIM:619428
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Punctate keratitis, Hepatomegaly, Chronic diarrhea, Thrombocytop... OMIM:557000
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Potocki-Shaffer Syndrome
Micropenis, Anemia, Short philtrum, Downturned corners of mouth ORPHA:52022
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Hypersplenism, Pancytopenia, Biliary tract obstruction, Gingival b... ORPHA:77259
Coach Syndrome 3
Renal tubular atrophy, Anemia, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal... OMIM:619113
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Dengue Fever
Leukopenia, Diarrhea, Gingival bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Thro... ORPHA:99828
Spermatogenic Failure 17
Male infertility OMIM:617214
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Vomiting, Megaloblastic anemia, Eczema, Lymphopenia, Pancytopenia, Recurrent pn... OMIM:617780
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... OMIM:617609
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Nephrotic syndrome, Stage 5... OMIM:618348
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short philtrum, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Hemolytic-uremic syndrome, Gingivitis, Perianal abscess, Bronchiectasis, ... ORPHA:2968
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Propionic Acidemia
Anemia, Vomiting, Pancytopenia, Constipation, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancre... OMIM:606054
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hypocalcification of dental enamel, Hepatomegaly, Amelogenesis... ORPHA:169090
Leukodystrophy, Hypomyelinating, 24
Tongue fasciculations, B lymphocytopenia OMIM:619851
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:230800
Chediak-Higashi Syndrome
Leukopenia, Anemia, Gingivitis, Periodontitis, Jaundice, Giant neutrophil granules, Lymphadenopat... OMIM:214500
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Ambiguous genitalia, Deep philtrum, Cryptorchidism ORPHA:1237
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Recurrent sinusitis, Absent circulating B cells OMIM:619707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Anemia, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria,... OMIM:613092
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Skin rash, Arthritis, Lymphopenia, Myositis, Lymphadenopathy, Sinusitis, ... OMIM:617591
Vomiting, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Focal Segmental Glomerulosclerosis 1
Stage 5 chronic kidney disease, Anemia, Focal segmental glomerulosclerosis, Proteinuria OMIM:603278
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, High palate, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... OMIM:612925
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Short philtrum, Macrothrombocytopenia, Protein... OMIM:603585
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidney, Duplicated collecting sy... OMIM:227650
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Oral l... OMIM:127550
Good Syndrome
Thymoma, Anemia, Diarrhea, Bronchiectasis, Recurrent urinary tract infections, Aplasia/Hypoplasia... ORPHA:169105
Immunodeficiency 7
Hypereosinophilia, Diarrhea, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutrope... OMIM:615387
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798