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Gene: Pgm3 MGI:97566

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Gene Summary

Name:
phosphoglucomutase 3
Synonyms:
2810473H05Rik,  Pgm-3,  GlcNAc-P mutase

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
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... OMIM:615816

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Type I diabetes mellitus, 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
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia 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
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candid... OMIM:608971
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia ORPHA:517
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Diarrhea, Oral ulcer, Leukopenia, Neutrope... OMIM:229050
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... OMIM:615617
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Genital ulcers, Oral ulcer, Colitis, Ileal ulcer, ... OMIM:616744
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, Carious teeth, Hepatosp... OMIM:259710
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... OMIM:150550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... OMIM:619644
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Colitis, Hemophagocytosis, A... OMIM:613101
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Abnormality of the tonsils, Abnormal... ORPHA:229717
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... ORPHA:507
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Oral ulcer, Malar rash, Leukopenia, Optic neuritis, Myelitis, Lympho... OMIM:301080
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L... OMIM:603554
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Abnormality of the kidney, Retroperitoneal fibros... ORPHA:449432
Malaria
Anemia, Thrombocytopenia ORPHA:673
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,... ORPHA:277
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Splenomegaly, Secretory diarrhea, Enterocolitis, Anemia, Reduced n... OMIM:616050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Cirrhosis, Thrombocytopenia ORPHA:101028
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality ... ORPHA:85443
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri... ORPHA:2686
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Nephropa... ORPHA:1830
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M... OMIM:231200
Immunodeficiency 46
Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Nephronophthisis
Anemia ORPHA:655
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Steatorr... ORPHA:79303
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hyperlysinemia, Type I
Anemia OMIM:238700
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Anemia, Hepatosplenomegaly OMIM:259730
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... OMIM:619281
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... OMIM:607594
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Gingival ov... OMIM:259720
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... OMIM:212050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... OMIM:613501
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... OMIM:618459
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Atelis Syndrome 1
Carious teeth, Anemia, Leukopenia, High palate, Long philtrum, Thrombocytopenia OMIM:620184
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Chronic ... ORPHA:169154
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
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia ORPHA:1046
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... OMIM:602450
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Microangiopathic hemolyti... ORPHA:54057
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Diarrhea, Abnormality of... ORPHA:54251
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Atopic dermatitis, Anteriorly placed anus,... OMIM:618624
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Specific Granule Deficiency 2
Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Intractable diarrhea, To... OMIM:617475
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T ly... OMIM:616433
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Vomiting, Erythrode... OMIM:619510
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Anal canal squamous carcinoma,... ORPHA:217390
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, R... ORPHA:314652
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Abnormality o... ORPHA:275555
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Achalasia, Thrombocytopenia, Dysphagia OMIM:615750
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... OMIM:615816
Stuve-Wiedemann Syndrome 2
Eczema, Stillbirth, Dysphagia, Neonatal death, Thrombocytopenia OMIM:619751
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Infectious en... ORPHA:1304
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Deep phil... OMIM:606003
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... OMIM:209950
Intermediate Osteopetrosis
Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hepatosplenomegaly... ORPHA:210110
Reticular Dysgenesis
Abnormality of neutrophils, Malabsorption, Diarrhea, Leukopenia, Aplasia/Hypoplasia of the thymus... ORPHA:33355
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Gastroesophageal ... OMIM:249270
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia, Amelogenesis imperfecta OMIM:614727
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... OMIM:613987
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia ORPHA:370924
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... ORPHA:36234
Isovaleric Acidemia
Pancytopenia, Leukopenia, Vomiting, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Retrograde ejaculation, Hashimoto thyroiditis, Psoriasiform dermatitis, Unilat... ORPHA:49041
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatosplenomegaly ORPHA:99931
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia OMIM:615597
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Pierre-Robin sequence, Thrombocytopenia OMIM:619981
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Hepatomegaly OMIM:269840
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Oral ulcer, Cheilitis... ORPHA:536
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Hepatosplenomegaly,... OMIM:242700
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia ORPHA:85212
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Gingival overgrowth, Hepatosplenomegaly, Clitoral hype... ORPHA:313855
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... OMIM:615966
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... OMIM:612692
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Diarrhea, Cheilitis, Gastroesophageal reflux, G... ORPHA:90045
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis,... ORPHA:2298
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia ORPHA:3204
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Thrombocyt... OMIM:300048
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
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
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirr... ORPHA:905
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Anemia, Leukopeni... ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Gingival bleeding, Neutrope... ORPHA:88
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Epididymitis... ORPHA:2035
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Diarrhea, Cholestasis, Anemia, Protein-losing enteropathy, Vomiting... OMIM:608104
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome... ORPHA:47612
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Increased proportion of memory T ce... OMIM:618982
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sple... ORPHA:2137
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Lymphadeno... ORPHA:79078
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c... OMIM:616730
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Steatorrhea... OMIM:612714
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Nephroblastoma, Cryptorchidism, High, narrow palate, Abnormal ... ORPHA:2849
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... OMIM:619313
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Inc... OMIM:616005
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Anemia, Long philtrum ORPHA:2598
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Relapsing Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Diarrhea, Hematuria, Leukopenia, Abnormal... ORPHA:91547
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Steatorrhea, High palate, Neutropenia, Hyperechogenic ... OMIM:617941
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenesis, Short philtrum, Anemia ORPHA:2325
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Renal insufficiency, Proteinuria, Skin rash, Discoid lupus rash, Diarrhea, ... ORPHA:93552
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Chronic diarrh... OMIM:617053
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Lymphadenopathy, B lym... OMIM:618048
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia ORPHA:75233
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer... ORPHA:98849
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Anal fissure, Perianal abscess, Splenomegaly, Lymp... OMIM:618935
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... ORPHA:85450
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil ... OMIM:169400
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Gingival overgrowth, Nephrotic syndrome, Chronic co... OMIM:619428
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Diarrhea, En... OMIM:308230
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Boutonneuse Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Diarrhea, Lymp... ORPHA:83313
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hemochromatosis, Type 4
Hepatomegaly, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Deep philtrum, Thrombocytopenia ORPHA:1237
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Oral mucosal blisters ORPHA:79402
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis OMIM:619693
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Gingival bleeding, C... ORPHA:77259
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... OMIM:112200
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Leukopenia, Gingival bleeding, Ascites, Thro... ORPHA:99828
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Potocki-Shaffer Syndrome
Downturned corners of mouth, Micropenis, Short philtrum, Anemia ORPHA:52022
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, S... OMIM:618348
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... OMIM:557000
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 17
Male infertility OMIM:617214
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Propionic Acidemia
Hepatomegaly, Pancytopenia, Anemia, Vomiting, Constipation, Neutropenia, Pancreatitis, Thrombocyt... OMIM:606054
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Tongue fasciculations OMIM:619851
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy... ORPHA:169090
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:614520
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy, Decreased CD4... OMIM:618495
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Vomiting, Prolonged neonatal jaundice OMIM:618892
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias, Anemia, Cardiomegaly OMIM:620135
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op... ORPHA:90340
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop... OMIM:615387
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stricture, Chronic diarrh... OMIM:613989
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, High palate, Prolonged neonatal jaundice, Thrombocytopenia OMIM:170100
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Short philtrum, Neutropenia, Decreased platele... OMIM:603585
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Thrombocytopenia OMIM:614857
Cog4-Cdg
Intermittent diarrhea, Cirrhosis, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Ar... OMIM:617591
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... ORPHA:169105
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome... ORPHA:464329
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren... OMIM:227650
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular ... OMIM:127550
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom... OMIM:612541
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Anemia, Chronic constipation, Blood... ORPHA:209964
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Dysphagia, Testicula... OMIM:222300
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Nausea, Hematemesis, Leukocytosis, Chronic ki... ORPHA:340
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Gingival bleeding, Thrombocytopenia ORPHA:3002
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Decrease... OMIM:608233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... ORPHA:300298
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, St... OMIM:614376
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Eosinophilic Gastroenteritis
Eosinophilia, Malabsorption, Leukocytosis, Diarrhea, Dysphagia, Hematochezia, Protein-losing ente... ORPHA:2070
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Constipation, Anemia OMIM:614450
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Congenital adrenal hyperplasia... ORPHA:96181
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... OMIM:610163
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, T... OMIM:242860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, B lymphocytopenia, High palate, Pneumonia OMIM:614069
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... OMIM:618165
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Hypogeusia, Furrowed t... ORPHA:2930
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Eryth... ORPHA:540
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, C... ORPHA:2886
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... OMIM:619705
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Colitis, Decreased basophil cou... OMIM:618394
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... ORPHA:79239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Skin rash, Homocystinuria, Megaloblastic an... OMIM:277380
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogon... ORPHA:2959
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Macroglossia, Leu... OMIM:617303
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Oral ulcer, Ly... ORPHA:50918
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Oral leukoplakia, Thrombocyto... ORPHA:3322
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho... ORPHA:2470
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage... OMIM:242900
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Epididymitis, Neutropenia, Bronchiecta... OMIM:300755
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Braddock-Carey Syndrome 1
Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Thick vermilion border, Everted lowe... OMIM:619980
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Enamel hypoplasia, Anemia ORPHA:79405
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Ane... OMIM:260400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti... ORPHA:391487
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Eczema, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leuk... ORPHA:508542
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Eosinophilia, Abnormality of the kidney, Orchitis, Retroperitoneal fibros... ORPHA:449563
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... OMIM:616100
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia OMIM:251110
Immunodeficiency 22
Pericarditis, Abscess, Diarrhea, Protracted diarrhea, Anemia, Panniculitis, Chronic oral candidia... OMIM:615758
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia ORPHA:1192
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ... OMIM:610377
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ... OMIM:187900
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Cryptorchidism, Thrombocytopenia, Wide mouth, Long philtrum, Open mouth... OMIM:616638
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Conical tooth, Hepatosplenomegaly, Panuveitis, Panniculitis, B l... OMIM:301081
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:600901
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Chronic constipation, Gastroesophageal reflux, Thrombocytopenia OMIM:616577
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ... ORPHA:70593
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Gonadal dysgenesis, Abn... OMIM:611926
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Widely spaced ... OMIM:618067
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia OMIM:615438
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... OMIM:603467
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... OMIM:603553
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk... ORPHA:292
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... ORPHA:39041
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lympha... OMIM:615122
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Peritonitis, Rectal prolapse, ... ORPHA:90038
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neutropenia, Oral ulcer, Gout, Neph... OMIM:232220
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria... ORPHA:276
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflu... ORPHA:79408
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Enamel hypoplasia, Anemia ORPHA:79406
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Shigellosis
Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Naus... ORPHA:810
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,... OMIM:613990
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis OMIM:606996
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Gingival bleeding, Hypopitui... ORPHA:449285
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly OMIM:616622
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath... OMIM:274150
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Splenomegaly, Chronic diarrhea, Esophageal varix, Cholestasis, Inflam... OMIM:614576
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Cleft lip, High palate, Long philtrum, Thrombocytopenia OMIM:251290
Castleman Disease
Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Medi... ORPHA:160
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthri... ORPHA:375
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Thromboc... OMIM:619525
Drug-Induced Lupus Erythematosus
Pericarditis, Hematuria, Anemia, Malar rash, Serositis, Thrombocytopenia ORPHA:231111
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism,... OMIM:620005
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach cancer, E... ORPHA:2869
Ollier Disease
Precocious puberty, Lymphangioma, Anemia ORPHA:296
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Anemia, Nephrotic syndrome, Arthrit... ORPHA:575
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, L... OMIM:300972
Nijmegen Breakage Syndrome
Anal stenosis, Premature ovarian insufficiency, Autoimmune hemolytic anemia, Sinusitis, Recurrent... OMIM:251260
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227646
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ... ORPHA:64744
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Diarrhea, Iron deficiency anemia, Abnormal i... OMIM:226300
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:277480
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Enamel hypoplasia, Anemia ORPHA:79411
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Malabs... ORPHA:2315
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Alg8-Cdg
Diarrhea, Anemia, Macroglossia, Vomiting, Ascites, Thrombocytopenia ORPHA:79325
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia, Amenorrhea OMIM:606593
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... OMIM:614074
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Hepatic fibrosis, Bone marrow... OMIM:224230
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Gingiva... ORPHA:98870
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Avian Influenza
Pneumonia, Diarrhea, Hepatitis, Leukopenia, Conjunctivitis, Vomiting, Myelitis, Lymphopenia, Infe... ORPHA:454836
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Cryptorchidism, Dysphagia, Wide mouth, Increased mean corpuscular volume, Thick ... ORPHA:261250
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Neutropenia, Ascites, Thrombocyto... ORPHA:391673
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... OMIM:307200
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomeg... OMIM:608013
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... OMIM:251100
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Anemia OMIM:226670
Familial Benign Copper Deficiency
Deep philtrum, Anemia ORPHA:1551
Congenital Disorder Of Glycosylation, Type Iig
Smooth philtrum, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Giant platelets, Pierre-R... OMIM:611209
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia OMIM:230900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227645
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Diarrhea, Enterocolitis, Anemia, Vomiting, Ne... ORPHA:90051
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Inflammation of the large intestine, Nephropathy, Absent microvilli on th... OMIM:301000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Diarrhea, Schistocytosis, Microangiopathic he... OMIM:235400
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Lysinuric Protein Intolerance
Hepatomegaly, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Stage 5 chronic kidney disease, L... OMIM:222700
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, V... OMIM:619381
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Abnormal... ORPHA:1775
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Skin rash, Abnormality of the menstrual cycle... ORPHA:330015
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Oral ulcer, Iron deficiency anemia, Inf... OMIM:301074
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, Duodenal atresia ORPHA:1305
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Jaundice, Nephrocalcinosis, Re... OMIM:208085
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hepa... ORPHA:797
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Orthostatic Hypotension 2
Anemia OMIM:618182
Dermotrichic Syndrome
Aganglionic megacolon, Anemia ORPHA:99688
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Conjunctivitis, Vomiting, Infect... ORPHA:448237
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Bronchiectasis, Lung abscess OMIM:241600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Dental crowding, Cryptorchidism, Chronic diarrh... OMIM:619005
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent pneumonia, Bronchiectasis, Immotile sperm, Otitis media, Polysplenia,... OMIM:613807
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... ORPHA:1451
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Thick upper... OMIM:617883
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Cryptorchidism, Megarectum, Leukopenia, ... OMIM:301056
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, H... OMIM:300514
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophil... ORPHA:36426
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Pediatric-Onset Graves Disease
Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Neutropenia in presence of anti-neutropil antibod... ORPHA:525731
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Oslam Syndrome
Anemia OMIM:165660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Irregular ... ORPHA:264580
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Vagina... ORPHA:79409
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Ivic Syndrome
Anal atresia, Leukocytosis, Rectovaginal fistula, Thrombocytopenia ORPHA:2307
Recon Progeroid Syndrome
Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, Delayed eruption of permanent t... OMIM:620370
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, High palate, Organic ac... OMIM:619743
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation,... ORPHA:537
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Cleft soft palate, Pure red cell aplasia, Renal agenesis, Er... ORPHA:124
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Recurrent pneumonia, Bronchiect... OMIM:243700
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Ch... ORPHA:79330
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... ORPHA:31150
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Persistence of primary teeth, Abnormality of the dentition, Thrombocy... ORPHA:2785
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Multiple gastric polyps, Prolonged neonatal jaundice, Thrombocytopenia OMIM:225750
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Chronic diarrhea, Abnormal lymphatic vessel morphology, Ascites, Abnormal sm... ORPHA:90362
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Deeah Syndrome
Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio... OMIM:619004
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... OMIM:601495
21Q22.11Q22.12 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Dental crowding, Thick lower lip vermilion, Downturned... ORPHA:261323
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Diarrhea, Irregular menstruation, Hepatocellular adenom... ORPHA:79240
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Takenouchi-Kosaki Syndrome
Smooth philtrum, Thin upper lip vermilion, Hypospadias, Increased mean platelet volume, Unilatera... OMIM:616737
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Long philtrum OMIM:617710
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Gaisböck Syndrome
Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hemato... ORPHA:90041
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Chronic diarrhea, Bronchiectasis, Abnormal spermatogenesis, Acute... OMIM:208900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... OMIM:175500
Noonan Syndrome 4
Ureteral duplication, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion border, Hy... OMIM:610733
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Microscopic hematuria, Myocarditis, Leuk... ORPHA:319213
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Thro... ORPHA:781
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Pelvic mass, Precocious puberty, Jaundice, Ovarian neopla... ORPHA:370348
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Sandifer Syndrome
Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia ORPHA:71272
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
Bernard-Soulier Syndrome
Partially duplicated kidney, Gastrointestinal hemorrhage, Hematemesis, Giant platelets, Macrothro... ORPHA:274
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Nephrotic syn... OMIM:607426
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Malabsorption, Thrombocytop... ORPHA:3260
Overlap Myositis
Abnormality of the kidney, Leukopenia, Arthritis, Rheumatoid arthritis, Dysphagia, Thrombocytopenia ORPHA:206572
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Fanconi Anemia, Complementation Group R
Anal atresia, Bone marrow hypocellularity, Anemia, Agenesis of permanent teeth OMIM:617244
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Chronic diarrhea, Anemia, Narrow mouth, Thrombocytopenia OMIM:620072
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Abnor... OMIM:226600
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites, Thrombocytopenia OMIM:617397
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea, Hepatosplenomegaly, Anemia, Ly... ORPHA:333
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypert... OMIM:615688
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... ORPHA:244242
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Diarrhea, Blood... ORPHA:67
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Rat-Bite Fever
Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Follicular hyperplasia, Pustule, Malar rash, Paratracheal lymphadenopathy, L... OMIM:615934
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, High palate, Widely... OMIM:122470
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Vici Syndrome
Lymphopenia, Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Chroni... OMIM:242840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Vomiting, Nephrotic range pr... ORPHA:544482
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Atelis Syndrome 2
Diastema, Thick lower lip vermilion, Downturned corners of mouth, Anemia, High palate, Gastroesop... OMIM:620185
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... ORPHA:440713
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Cholelithiasis, Thrombocyt... OMIM:263700
Muir-Torre Syndrome
Endometrial carcinoma, Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm... ORPHA:587
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Esoph... OMIM:305000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Cholestasis, Lymphaden... OMIM:615895
Wilson Disease
Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hem... OMIM:277900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hormone stimulati... ORPHA:293978
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Gastroesophageal reflux, Abnormality of the male... ORPHA:847
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Anemia OMIM:620366
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Polycythemia, Total intestinal aganglionosis OMIM:600501
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Primary amenorrhe... OMIM:619418
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:66628
Rift Valley Fever
Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Anemia, Hematuria, Melena, Gingival bleedin... ORPHA:319251
Dubowitz Syndrome
Hypoparathyroidism, Delayed eruption of teeth, Anal stenosis, Hypospadias, Abnormality of neutrop... ORPHA:235
Holocarboxylase Synthetase Deficiency
Skin rash, Organic aciduria, Vomiting, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... OMIM:253270
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thr... OMIM:616271
Bazex Syndrome
Lip hyperpigmentation, Anemia ORPHA:166113
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pancytopenia, Ch... OMIM:615846
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... OMIM:607944
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Gingival overgrowt... OMIM:301072
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Nausea, Vulval varicose vein, Hematuria, Infertility, Ren... ORPHA:71273
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:179494
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Malabsorption, Splenomegaly, M... ORPHA:3452
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Hypospadias, Aplasi... ORPHA:84
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Melena, Neonatal alloimmune thrombocytopenia ORPHA:853
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Jacobsen Syndrome
U-Shaped upper lip vermilion, Hypospadias, Cryptorchidism, Pyloric stenosis, Clitoral hypoplasia,... OMIM:147791
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:77261
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... ORPHA:567546
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Macrogloss... ORPHA:505248
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Cleft palate, Horseshoe kidney, Aplasia of the uterus, Axial malrotati... ORPHA:3320
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N... OMIM:161200
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin... ORPHA:534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Cryptorchidism, Cleft palate, Anemia, ... ORPHA:163979
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Recurrent bacterial skin infections, Anisocytos... ORPHA:79277
Beckwith-Wiedemann Syndrome
Ureteral duplication, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythemia, Hepatomeg... ORPHA:116
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Horseshoe kidney, Pelvic kidney, Anemia OMIM:613951
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Renal... OMIM:229850
Ivic Syndrome
Intestinal malrotation, Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Anal atresia OMIM:147750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hep... ORPHA:79259
Dyskeratosis Congenita, Digenic
Decreased testicular size, Abnormality of the dentition, Gastroesophageal reflux, Dysphagia, Oral... OMIM:620040
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Constipation, Anemia OMIM:239200
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Microvesicular hepatic steatosis, Secretory diarrhea,... OMIM:619377
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Congenital Factor Ii Deficiency
Menorrhagia, Anemia ORPHA:325
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Aceruloplasminemia
Anemia OMIM:604290
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Intestinal bleeding, Bone marrow hypocellularity, Oral leukoplakia, Thrombocytopenia OMIM:612199
Bloom Syndrome
Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Male infertility, Decreased propo... ORPHA:125
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis OMIM:613280
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Thrombocytopenia ORPHA:99901
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Jacobsen Syndrome
Smooth philtrum, Multicystic kidney dysplasia, Intestinal malrotation, Eczema, Cryptorchidism, Py... ORPHA:2308
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesis, Thin lowe... ORPHA:221139
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Pericarditis, Skin ra... ORPHA:99826
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Diarrhea... ORPHA:139411
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Deep philtrum, Non-midline cleft li... ORPHA:647
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Cleft upper lip, Reticulocytopenia, Cleft palat... OMIM:105650
Crimean-Congo Hemorrhagic Fever
Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocy... ORPHA:99827
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentition, Nephrol... ORPHA:93598
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... ORPHA:464321
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Alg12-Cdg
Thin upper lip vermilion, Hypospadias, Intestinal malrotation, Cryptorchidism, Recurrent pneumoni... ORPHA:79324
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Paralytic ileus, Ne... OMIM:276700
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Abnormal... ORPHA:3463
Diamond-Blackfan Anemia 10
Macrocytic anemia, Reticulocytopenia, Cleft palate, Steroid-responsive anemia, Anemia OMIM:613309
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Downturned corners of mouth, Thrombocytopenia, Abnormality of the dentition OMIM:612394
Senior-Loken Syndrome 1
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... OMIM:266900
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s... ORPHA:244
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Corticosteroid-Binding Globulin Deficiency
Anemia OMIM:611489
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Anem... ORPHA:2072
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia OMIM:616457
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Attrv122I Amyloidosis
Left ventricular hypertrophy, Abnormal enteric nervous system morphology, Anemia, Cardiomegaly ORPHA:85451
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-... ORPHA:79282
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Yellow Fever
Acute pancreatitis, Neutrophilia, Anuria, Renal insufficiency, Skin rash, Hematemesis, Leukocytos... ORPHA:99829
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
Wars2-Related Combined Oxidative Phosphorylation Defect
Thin upper lip vermilion, High palate, Thrombocytopenia, Dysphagia ORPHA:572798
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Increased mea... ORPHA:487796
Interstitial Lung And Liver Disease
Hepatomegaly, Cholestasis, Hepatic fibrosis, Vomiting, Cirrhosis, Thrombocytosis, Hepatic steatos... OMIM:615486
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T... OMIM:274000
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Intestinal perforation, Bloody diarrhea, Hematuria, Tubulointers... ORPHA:90068
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... ORPHA:93111
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl... OMIM:610199
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Anemia, Pancreatic aplasia OMIM:609069
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Constipation, Thrombocytopenia ORPHA:457351
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... OMIM:164280
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enteropathy, Ly... OMIM:619991
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Aplastic anemia, Selective tooth agenesis, Abnormal dental enamel morp... ORPHA:2909
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Malt Lymphoma
Mediastinal lymphadenopathy, Constipation, Anemia, Lymphadenopathy ORPHA:52417
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Ch... OMIM:244400
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bili... OMIM:219700
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Irregular m... OMIM:256040
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Anemia OMIM:208060
Bohring-Opitz Syndrome
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Narrow mou... OMIM:605039
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenc... ORPHA:456312
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent oti... OMIM:612444
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Vomiting, Tongue fasciculations, Dysphagia, Nausea, Thrombocytopenia ORPHA:297
Ciliary Dyskinesia, Primary, 18
Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm, Recurrent otitis media, Abdomina... OMIM:614874
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... ORPHA:64
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Short philtrum, Gastroesophageal reflux, Ves... ORPHA:567
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Leukocytosis, Vomiting, Aspiration pneumonia, Dysphagia, Throm... ORPHA:94093
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... ORPHA:77293
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Ogden Syndrome
Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anemia, High palate, Macrovesicu... OMIM:300855
Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Gingival bleeding, Cirrhosis, Dyspha... ORPHA:355
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth... OMIM:243910
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Chronic calcifying pancreatitis, Vomiting, Abnormal ... ORPHA:103918
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacuolated lym... ORPHA:275761
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Schinzel-Giedion Syndrome
Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, High palate, Short philtrum, Hepa... ORPHA:798
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, High palate, Widely spaced teeth... OMIM:266920
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Roberts Syndrome
Cleft upper lip, Cryptorchidism, Thrombocytopenia, Long penis, Cleft palate, High palate, Clitora... ORPHA:3103
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Cleft lip, Pulmon... OMIM:265380
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Anemia, Hepatomegaly OMIM:612301
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis OMIM:618801
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Distal Deletion 12Q
Late onset atopic dermatitis, Median cleft lip, Unilateral cryptorchidism, Ectopic kidney, High, ... ORPHA:96149
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Ciliary Dyskinesia, Primary, 34
Male infertility, Bronchiectasis, Immotile sperm, Recurrent sinusitis, Chronic rhinitis OMIM:617091
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the s... ORPHA:1606
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Premature loss ... ORPHA:2908
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Shawl... OMIM:616263
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Diarrhea, Hepatitis, Uve... ORPHA:509
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Congenital hypoparathyroidism, Decreased testicular ... ORPHA:93325
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Carious teeth, Corona... OMIM:149730
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Atelosteogenesis Type I
Malrotation of colon, Multiple renal cysts, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Lymphatic Malformation 7
Ascites, Anemia OMIM:617300
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Cleft lip, Renal cyst, Furrowed tongue, High palate, Broad alveolar ... OMIM:616975
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia,... OMIM:263520
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Cleft palate, Ne... ORPHA:264450
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Cryptorchidism, Supernumerary tooth, Hypoplasia of teeth, Anteriorly p... OMIM:268400
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, High palate, Constipation, Annular pancreas OMIM:618162
Acute Liver Failure
Gastrointestinal hemorrhage, Skin rash, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, Hepatoce... ORPHA:90062
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, Abnormal denta... ORPHA:2750
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... ORPHA:1318
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematochezia, Hepatic arteriovenous... OMIM:175050
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con... ORPHA:95455
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Orofaciodigital Syndrome I
Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious te... OMIM:311200
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis OMIM:619607
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Rhinitis, Recurrent sinusitis, Recurrent otitis media OMIM:614935
Bohring-Opitz Syndrome
Nephroblastoma, Cleft lip, Cleft palate, Urinary retention, Vomiting, Cholelithiasis, Annular pan... ORPHA:97297
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Cleft palate, Downturned corners of mouth, Annular pancreas, Ankylo... ORPHA:488642
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Exercise-Induced Malignant Hyperthermia
Oliguria, Vomiting, Acute kidney injury, Nausea, Thrombocytopenia ORPHA:466650
Osteogenesis Imperfecta
Delayed eruption of teeth, Intestinal obstruction, Abnormality of dental color, Abnormal dental e... ORPHA:666
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Hematemesis, Lip telangiectasia, Tongue telangiectasia, Hematochezia, Melena, Gast... OMIM:600376
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180

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 Pgm3

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 Pgm3.

No publications found that use IMPC mice or data for Pgm3.

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MGI Allele Allele Type Produced
Pgm3tm83444(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pgm3em1(IMPC)Hmgu Exon Deletion Mice

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