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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
preweaning lethality, complete penetrance Pgm3em1(IMPC)Hmgu HOM   Early adult 1.79×10-07

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Viewing: all phenotypes

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
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... OMIM:615816

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive 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
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement, Proteinu... OMIM:617006
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function 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, Decreased proportion of memory ... OMIM:615559
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... OMIM:612840
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... ORPHA:231222
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Skin rash, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemol... OMIM:616744
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Persistence of pri... OMIM:259710
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Intermittent diarrhea, R... OMIM:619644
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Thrombocytopenia, Neutr... OMIM:229050
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... OMIM:618963
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Dominant Beta-Thalassemia
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... ORPHA:231226
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... OMIM:617021
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fetal Parvovirus Syndrome
Anemia, Ascites, Thrombocytopenia ORPHA:295
Immunodeficiency 114, Folate-Responsive
Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megaloblastic anemia, Thro... OMIM:620603
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Beta-Thalassemia Major
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... ORPHA:231214
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Leishmaniasis
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... OMIM:620449
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Systemic Lupus Erythematosus 17
Myelitis, Lymphopenia, Leukopenia, Malar rash, Oral ulcer, Optic neuritis, Thrombocytopenia, Auto... OMIM:301080
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Omenn Syndrome
Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia, Splenomegaly, Increase... OMIM:619824
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin... ORPHA:277
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Malaria
Anemia, Thrombocytopenia ORPHA:673
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Al Amyloidosis
Howell-Jolly bodies, Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, ... ORPHA:85443
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Congenital Toxoplasmosis
Diarrhea, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim... OMIM:603909
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Transaldolase Deficiency
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Abnormal clitoris morphology ORPHA:101028
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal... OMIM:616050
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho... ORPHA:100026
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the ... ORPHA:229717
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Parotitis, Foot osteomyelitis, Abnormalit... ORPHA:31202
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired risto... OMIM:231200
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au... OMIM:301078
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent diarrhea, Splenomegaly, Superfic... OMIM:620632
Immunodeficiency 46
Anemia, Chronic diarrhea, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Euthyroid goiter, Thrombocytopenia ORPHA:3327
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... ORPHA:79303
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Splenome... OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia OMIM:614493
Nephronophthisis
Anemia ORPHA:655
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... OMIM:601457
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Ascites, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Secondary amenorrhea OMIM:613313
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Dental malocclusion, Extramedullary hematopoiesis OMIM:259730
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly... ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Chronic diarrhea, Hypoplasia of the thymus, Impaired l... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T cell morpho... OMIM:613501
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Long philtrum, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocyto... OMIM:259720
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Atelis Syndrome 1
Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Thrombocytopenia, Anem... OMIM:620184
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 62
Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt... OMIM:618459
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Congenital Syphilis
Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreat... ORPHA:499009
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Anemia, Impotence OMIM:604250
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Ovar... ORPHA:400
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h... OMIM:278000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Narrow mouth, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias, Thin vermilion border ORPHA:1046
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnorm... ORPHA:397596
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy... ORPHA:54057
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Specific Granule Deficiency 2
Tooth malposition, Intractable diarrhea, Conical tooth, Absent neutrophil specific granules, Amel... OMIM:617475
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai... OMIM:153670
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,... OMIM:618624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, ... OMIM:620565
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... OMIM:615816
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Achalasia, Dysphagia, Thrombocytopenia OMIM:615750
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth OMIM:618107
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Immunodeficiency 27A
Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia... OMIM:209950
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, ... ORPHA:98850
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Neonatal death, Thrombocytopenia, Stillbirth, Dysphagia OMIM:619751
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ... OMIM:301101
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Amelogenesis imperfecta, Thrombocytopenia OMIM:614727
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abn... ORPHA:54251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... ORPHA:217390
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Deep dermal per... ORPHA:49041
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis ORPHA:99931
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... ORPHA:35858
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri... ORPHA:99867
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Gingival ove... ORPHA:313855
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Decre... ORPHA:331206
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal salivary gland morpholog... ORPHA:314652
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... OMIM:249270
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie... ORPHA:36234
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... OMIM:618969
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stomatitis OMIM:246400
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Thrombocytopeni... OMIM:243500
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Leukopenia, Leukocytosis, Gingival overgrowth, Metrorrhagia, Lym... ORPHA:520
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Downturned corners of mouth, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutro... OMIM:301110
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Braddock-Carey Syndrome 2
Cleft palate, Wide mouth, Thrombocytopenia, Pierre-Robin sequence OMIM:619981
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Chronic mucocutan... OMIM:102700
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytop... ORPHA:90045
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Skin rash, Polycystic ovaries, E... ORPHA:2298
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:88
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Long philtrum, Recurrent aphthous stomatitis, Thin upper... OMIM:615966
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia ORPHA:370924
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Aphthous ulcer, Croh... OMIM:615767
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... OMIM:606367
Spermatogenic Failure 25
Cryptozoospermia, Decreased testicular size, Non-obstructive azoospermia, Spermatocyte maturation... OMIM:617960
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Chronic diarrhea, Abnor... ORPHA:47
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... OMIM:619313
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, ... OMIM:300048
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno... OMIM:612692
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Wilson Disease
Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Hepatic steatosis, Splenomegaly, ... ORPHA:905
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia OMIM:615597
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Leukopenia, Leukocyto... ORPHA:91547
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, ... ORPHA:2137
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... OMIM:612714
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:616730
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:290
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils ORPHA:33355
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Long philtrum ORPHA:2598
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu... ORPHA:470
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome... OMIM:617941
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T... ORPHA:319218
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Microphallus, Lymphopenia, Leukopenia, Decreased testicular... OMIM:617053
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Long philtrum, Cholestasis, Ascites, Cryptorchidi... OMIM:608104
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Microangiop... ORPHA:93552
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philtrum ORPHA:2325
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... ORPHA:47612
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia, Male i... OMIM:619528
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Abnormal upper lip morphology, Open mouth, Cry... ORPHA:2849
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... OMIM:618048
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Lymphadenopathy, ... ORPHA:83313
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea ORPHA:75233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Urinary retention, Chronic mucocutaneous candid... ORPHA:79124
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Downturned corne... OMIM:617052
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Long philtrum, Gingival overgrowth, Chronic constipation, Proteinuria, Smooth philtrum, Glomerula... OMIM:619428
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Anal fissure, Lymphopenia, H... OMIM:618935
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Impotence OMIM:606069
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Pelger-Huet Anomaly
Abnormality of the dentition, Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Gin... OMIM:169400
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Oral... OMIM:308230
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia OMIM:618728
Prolidase Deficiency
Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia, High palate OMIM:170100
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:618348
Potocki-Shaffer Syndrome
Anemia, Short philtrum, Micropenis, Downturned corners of mouth ORPHA:52022
Immunodeficiency 7
Diarrhea, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrope... OMIM:615387
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Dengue Fever
Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Thrombocytopenia, ... ORPHA:99828
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Pancreati... OMIM:251000
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia OMIM:619693
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Immune Thrombocytopenia
Gingival bleeding, Abnormal vaginal bleeding, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:3002
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Oral ulcer, Hematuria, Proteinuria, Abnormal pigmenta... ORPHA:536
Propionic Acidemia
Vomiting, Pancytopenia, Hepatomegaly, Constipation, Pancreatitis, Thrombocytopenia, Neutropenia, ... OMIM:606054
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen OMIM:185070
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous... OMIM:557000
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Harderoporphyria
Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Deep philtrum, Cryptorchidism, Thrombocytopenia ORPHA:1237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, He... OMIM:618495
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate OMIM:614520
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina... ORPHA:169105
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells, Recurrent sinusitis OMIM:619707
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Blau Syndrome
Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Stage 5 chronic ... ORPHA:90340
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de... ORPHA:169090
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Sinus... ORPHA:70593
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... OMIM:603585
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormality of the dentition, Hepatic fibrosis, Aplastic anemia, Ora... OMIM:613989
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Myositis, Hepatomegaly, Sinusitis, Lymphadenopathy, Thrombo... OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morpholog... ORPHA:83469
Cog4-Cdg
Cirrhosis, Hepatosplenomegaly, Intermittent diarrhea, Thrombocytopenia ORPHA:263501
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Abn... OMIM:227650
Gaucher Disease Type 1
Splenic infarction, Gingival bleeding, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia,... ORPHA:77259
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Cardiomegaly, Hypospadias, Cryptorchidism OMIM:620135
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,... OMIM:214500
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Episodic hemolytic anemia, Membranoproliferative ... ORPHA:251004
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Carious teeth, Increased mean corpuscular volume, Aplastic anemia, O... OMIM:127550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Thin upper l... OMIM:614376
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Psoriasiform derm... OMIM:617237
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Anemia, Inter... ORPHA:209964
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypospadias, Cryptorchidism OMIM:616910
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Dec... ORPHA:340
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Cryptorchidism, Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged platelet dens... OMIM:608233
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Hepatosplenomegaly, Azoospermia, Reticulocytopenia, Dysplastic erythropoesis, Eleva... ORPHA:300298
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Macroglossia, Constipation, Delayed eruption of teeth OMIM:614450
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy, Gingival bleeding OMIM:620514
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Acute kidney injury, Renal insuff... ORPHA:275555
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular a... OMIM:618165
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... OMIM:613845
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias OMIM:612528
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Autoimmune hemolytic anemia, Eosinophilia, Erythroderma... OMIM:610163
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... OMIM:222300
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Classic Galactosemia
Diarrhea, Vomiting, Ascites, Cryptorchidism, Jaundice, Abnormal erythrocyte enzyme concentration ... ORPHA:79239
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:2668
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Neutropenia, Hepatomegaly, High pala... OMIM:612541
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Ascites, Leukocytosis, Eosinophilia... ORPHA:2070
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Gastroesophageal reflux, Dental malocclusion, Selective tooth agenesis, Microcytic a... ORPHA:2959
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasi... OMIM:208540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, High palate, Diarrhea, B lymphocytopenia OMIM:614069
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro... OMIM:617056
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Cold Agglutinin Disease
Diarrhea, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Chr... OMIM:618394
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Delayed eruption of teeth, Lymphopenia, Leuko... ORPHA:508542
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... OMIM:619705
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Infectious encephalitis, He... ORPHA:540
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent urinary tract infections, Recurr... OMIM:300755
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Recurrent pneumonia, Bone marr... OMIM:617303
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Oral leukoplakia, Abnormal leukocyte morphology, Thrombocytopenia, A... ORPHA:3322
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Skin rash, Glossitis, Hep... OMIM:277380
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... OMIM:613990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Protruding tongue, Sinusitis, Macroglossi... OMIM:242860
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Cleft upper lip, Congenital adrenal hyperplasia, Thrombocytopenia, Hydrocel... ORPHA:96181
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Alveolar ridge overgrowth, Abnormal duodenum morpho... ORPHA:2886
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Inflammation of the large intestine, Pancytopenia, Splenomegaly, Iridoc... OMIM:181000
Braddock-Carey Syndrome 1
Anteriorly placed anus, Enamel hypoplasia, Everted lower lip vermilion, Thrombocytopenia, Thick v... OMIM:619980
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Anal fissure, Ankyloglos... ORPHA:79408
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatospleno... ORPHA:35078
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-pos... OMIM:611926
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... ORPHA:811
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, In... OMIM:602390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Absent natural killer cells, Recurrent otitis media, Lymphopenia, Absent peripheral ly... OMIM:600802
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... OMIM:260400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... OMIM:267700
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Nephrotic syndrome, Lymphadenitis, Chronic mucocutaneous candidiasis, Abnormal lymph n... ORPHA:911
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Ane... OMIM:600901
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal... OMIM:242900
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Infantile Liver Failure Syndrome 1
Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia OMIM:615438
Igg4-Related Ophthalmic Disease
Keratitis, Colon cancer, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituit... ORPHA:449563
Mevalonic Aciduria
Diarrhea, Vomiting, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepat... OMIM:610377
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Immunodeficiency 22
Diarrhea, Protracted diarrhea, Decreased proportion of CD4-positive helper T cells, Abscess, Thro... OMIM:615758
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Aut... OMIM:616100
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Conical tooth, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymp... OMIM:301081
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Chronic ... ORPHA:91139
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Abnormal dental morphology, Hepatosplenomegaly... ORPHA:210110
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... ORPHA:2470
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo... OMIM:187900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Gastroesophageal reflux, Thrombocytopenia, Chronic constipation OMIM:616577
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... ORPHA:276
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ... OMIM:615122
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh... ORPHA:90038
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Smith-Kingsmore Syndrome
Long philtrum, Open mouth, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum, Thrombocyto... OMIM:616638
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Congenital Enterovirus Infection
Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ... ORPHA:292
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Perineal hypospadias, Abnormality of the male genitalia, G... ORPHA:261529
Pseudo-Torch Syndrome 1
Cleft lip, Long philtrum, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, High palate OMIM:251290
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent urinary tract infections, Decreased respons... OMIM:307200
Von Willebrand Disease
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Ab... ORPHA:903
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Intestinal obstruction, Generalized lymphade... ORPHA:160
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Cronkhite-Canada Syndrome
Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, Hepatomegaly, Anem... ORPHA:2930
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Senior-Loken Syndrome 4
Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Intestinal perforation, Bloo... ORPHA:810
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab... ORPHA:480520
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Microcyt... OMIM:619525
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthri... ORPHA:375
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Vaginal stricture, Oral mucosal blisters, Gastrointestinal inflammation, Anemia, E... ORPHA:79409
Snakebite Envenomation
Gingival bleeding, Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Hypopitui... ORPHA:449285
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... OMIM:607676
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to gro... OMIM:603467
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Cirrhosis, Enamel h... OMIM:614576
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... OMIM:274150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Diarrhea, Cleft upper lip, Recurrent urinary tract infections... OMIM:251260
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Decreased proport... ORPHA:83471
Von Willebrand Disease, Type 3
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Ollier Disease
Anemia, Lymphangioma, Precocious puberty ORPHA:296
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Sple... ORPHA:575
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Hors... OMIM:227646
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic... ORPHA:64744
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Drug-Induced Lupus Erythematosus
Malar rash, Hematuria, Thrombocytopenia, Anemia, Pericarditis, Serositis ORPHA:231111
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Amenorrhea, Thrombocytopenia, Micropenis, Acute lymphoblastic leukemia OMIM:606593
Hydatidiform Mole
Anemia, Enlarged uterus, Menometrorrhagia ORPHA:99927
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia,... ORPHA:454836
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Neoplas... ORPHA:2869
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Exocrine pancre... OMIM:300972
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Thrombocytopenia, Diarrhea, Hypochromic microcytic anemia ORPHA:3240
Lesch-Nyhan Syndrome
Anemia, Hematuria, Gout, Renal insufficiency ORPHA:510
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intest... OMIM:226300
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Methylmalonic Aciduria, Cblb Type
Vomiting, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, An... ORPHA:98870
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... OMIM:614074
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... ORPHA:454831
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Lead Poisoning
Chronic kidney disease, Vomiting, Decreased male libido, Imbalanced hemoglobin synthesis, Reduced... ORPHA:330015
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis OMIM:616414
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Abnormal B cell count, A... OMIM:620430
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Diarrhea, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegal... OMIM:620376
Alg8-Cdg
Vomiting, Diarrhea, Ascites, Thrombocytopenia, Anemia, Macroglossia ORPHA:79325
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Oral u... ORPHA:93126
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... OMIM:224230
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Methylmalonic Aciduria, Cbla Type
Vomiting, Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid lev... OMIM:251100
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Abnormal vagina ... ORPHA:2315
Aceruloplasminemia
Abnormal pancreas morphology, Refractory anemia, Elevated hepatic iron concentration, Hypochromic... ORPHA:48818
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Carious teeth, Enamel hypoplasia OMIM:226670
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc... OMIM:227645
Familial Benign Copper Deficiency
Anemia, Deep philtrum ORPHA:1551
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Ascites, Hepatosplenomegaly, Open mouth, Splenomegaly, Narrow mouth,... OMIM:608013
Gaucher Disease, Type Ii
Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts OMIM:613824
Down Syndrome
Narrow mouth, Open mouth, Acute megakaryocytic leukemia, Chronic constipation, Protruding tongue,... ORPHA:870
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Long philtrum, Narrow mouth, Cryptorchidism, Thin upper lip vermilion, Smooth ph... OMIM:611209
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia OMIM:620484
Wiskott-Aldrich Syndrome
Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proporti... OMIM:301000
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Long philtrum, Wide mouth, Cryptorchidism, Solitary median max... ORPHA:261250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... OMIM:617718
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Ora... OMIM:619381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Diarrhea, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schist... OMIM:235400
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thin upper lip vermilion, Thrombocytopenia, High palate, Wide mouth, Incre... OMIM:620475
Sepsis In Premature Infants
Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Hepatomegaly, Enterocolitis, Thrombocytopenia, Ne... ORPHA:90051
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Oroticaciduria, Leukopenia, ... OMIM:222700
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Vomiting, Micronodular cirrhosis, H... OMIM:251880
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Sarcoidosis
Abnormal lymph node morphology, Abnormal reproductive system morphology, Erythema nodosum, Hepato... ORPHA:797
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Impotence, Glycosuria, Pancytopenia, Leukopenia, Ery... ORPHA:447
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Transcobalamin Ii Deficiency
Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulo... OMIM:275350
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Renal insufficiency, Pancreati... ORPHA:36426
Feingold Syndrome
Annular pancreas, Abnormality of the spleen, Orofacial cleft, Esophageal atresia, Duodenal atresia ORPHA:1305
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Diarrhea, Lymphocytic infiltration of th... ORPHA:436159
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Immotile sperm, Reduced sperm ... OMIM:613807
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Re... OMIM:208085
Orthostatic Hypotension 2
Anemia OMIM:618182
Cinca Syndrome
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, A... ORPHA:1451
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Dermotrichic Syndrome
Anemia, Aganglionic megacolon ORPHA:99688
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Abnormality of the... ORPHA:90291
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypogonadism, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, M... OMIM:300514
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Fanconi Anemia, Complementation Group S
Dental malocclusion, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Anemia, Narrow pa... OMIM:617883
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Dyskeratosis Congenita
Bone marrow hypocellularity, Abnormality of the dentition, Carious teeth, Periodontitis, Oral leu... ORPHA:1775
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Icf Syndrome
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils ORPHA:2268
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Zika Virus Disease
Myelitis, Vomiting, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivit... ORPHA:448237
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Thick vermilion border, Renal insufficiency, Abnormal renal glomerulus mo... OMIM:137940
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Diarrhea, Vomiting, Portal fibrosis, Cholestasis, Splen... ORPHA:264580
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Oslam Syndrome
Anemia OMIM:165660
Necrotizing Enterocolitis
Diarrhea, Vomiting, Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Bloody dia... ORPHA:391673
Pediatric-Onset Graves Disease
Diarrhea, Goiter, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antib... ORPHA:525731
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Hydr... OMIM:301056
Lathosterolosis
Intrahepatic cholestasis, Downturned corners of mouth, Long philtrum, Gingival overgrowth, Abnorm... ORPHA:46059
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Cryptorchidism, Chronic constipation, Hepatomegaly, Thrombocytopenia, Thick verm... OMIM:619005
Immunodeficiency 43
Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia OMIM:241600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ivic Syndrome
Anal atresia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Renal insuff... ORPHA:537
Recon Progeroid Syndrome
Dental crowding, Smooth philtrum, Thrombocytopenia, Anemia, Delayed eruption of permanent teeth, ... OMIM:620370
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:604292
Diamond-Blackfan Anemia
Adenocarcinoma of the colon, Cleft lip, Macrocytic dyserythropoietic anemia, Increased mean corpu... ORPHA:124
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Dental crowding, Long philtrum, Recurrent otitis med... OMIM:620654
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinu... OMIM:618882
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel... ORPHA:90362
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Chronic constipation, Cardiomegaly, Left ventric... ORPHA:79330
Holocarboxylase Synthetase Deficiency
Perioral eczema, Organic aciduria, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia ORPHA:79242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Vomiting, Diarrhea, Splenomegaly, Polycystic ovaries, D... ORPHA:79240
21Q22.11Q22.12 Microdeletion Syndrome
Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Thin upper lip vermilion... ORPHA:261323
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosi... ORPHA:974
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, B lymphocytopenia, Neutropenia,... OMIM:601495
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia ORPHA:71272
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motili... OMIM:620356
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Spl... ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Microvesicular hepatic steatosis OMIM:611126
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lujo Hemorrhagic Fever
Oliguria, Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Skin ra... ORPHA:319213
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Long philtrum, Thrombocytopenia OMIM:617710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Decreased response to growth hormone stimulation test, Recurrent otitis medi... ORPHA:293978
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... ORPHA:31150
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widel... OMIM:616737
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:129900
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Tooth malposition, Abnormality of t... ORPHA:2785
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis ORPHA:676
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Secretory diarrhea, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Perian... OMIM:619573
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Constipation, Enamel hypoplas... OMIM:226600
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Proteinuria, Glomerular sclerosis, Recurrent my... OMIM:607426
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Chédiak-Higashi Syndrome
Gingival bleeding, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnorma... ORPHA:167
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Anal atresia, Agenesis of permanent teeth OMIM:617244
Alveolar Echinococcosis
Vomiting, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio... ORPHA:284
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Aicardi-Goutieres Syndrome 1
Splenomegaly, Multiple gastric polyps, Prolonged neonatal jaundice, Thrombocytopenia, Hepatomegaly OMIM:225750
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Deeah Syndrome
Narrow palate, Long philtrum, Exocrine pancreatic insufficiency, Decreased response to growth hor... OMIM:619004
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstruction, Lung abscess,... ORPHA:67
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Metrorrhagia... ORPHA:370348
Idiopathic Hypereosinophilic Syndrome
Vomiting, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocyt... ORPHA:3260
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites, Thrombocytopenia OMIM:617397
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Diamond-Blackfan Anemia 21
Narrow mouth, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea OMIM:620072
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat... ORPHA:1572
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct... ORPHA:44890
Porphyria, Congenital Erythropoietic
Cholelithiasis, Erythrodontia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte ... OMIM:263700
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pus... ORPHA:31205
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, Pustule, M... OMIM:615934
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... OMIM:614377
Noonan Syndrome 4
Dental malocclusion, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Thick vermilion border, Ur... OMIM:610733
Overlap Myositis
Rheumatoid arthritis, Leukopenia, Arthritis, Thrombocytopenia, Abnormality of the kidney, Dysphagia ORPHA:206572
Neuroblastoma
Lymphadenopathy, Thrombocytopenia, Anemia, Chronic diarrhea, Abdominal mass ORPHA:635
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Xerostomia, Anemia, Glossitis, Hama... OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Diarrhea, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, ... OMIM:602347
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Vici Syndrome
Chronic mucocutaneous candidiasis, Everted upper lip vermilion, Long philtrum, Cleft upper lip, L... OMIM:242840
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Erythema nodos... OMIM:615688
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Benign Schwannoma
Abnormality of the liver, Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid g... ORPHA:252164
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid... OMIM:613550
Polycythemia Vera
Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splen... ORPHA:729
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Has... OMIM:618223
Farber Disease
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch... ORPHA:333
Hellp Syndrome
Acute kidney injury, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, ... ORPHA:244242
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Intestinal perforation, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hemol... ORPHA:544482
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Aganglionic megacolon, Abnormality of the pancreas ORPHA:935
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... ORPHA:90041
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Vomiting, Methylmalonic aciduria, Cystathioninu... OMIM:277400
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormality of the dentition, Abnormal ... ORPHA:2363
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... ORPHA:440713
Atelis Syndrome 2
Gastroesophageal reflux, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Thromb... OMIM:620185
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Cholestasis, ... OMIM:615895
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Polycythemia, Neonatal death OMIM:600501
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:66628
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Osteopetrosis, Autosomal Recessive 9
Anemia, Hyperparathyroidism OMIM:620366
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici... OMIM:619418
Cornelia De Lange Syndrome 1
Cryptorchidism, Hypoplastic labia majora, High palate, Ectopic kidney, Hypospadias, High, narrow ... OMIM:122470
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Carious teeth, Oral leukoplakia, Premature loss of teeth, Horseshoe ... OMIM:305000
Rift Valley Fever
Gingival bleeding, Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Hematemesis, Thrombo... ORPHA:319251
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Male pseudohermaphroditism, Everted lower lip vermilion, Abnormality of the kidne... ORPHA:847
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Bazex Syndrome
Anemia, Lip hyperpigmentation ORPHA:166113
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Diarrhea, Hematochezia, Hepatitis, Pancytopenia... OMIM:615846
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:179494
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Renal Nutcracker Syndrome
Varicocele, Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval vari... ORPHA:71273
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia... OMIM:616271
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp... OMIM:200995
Holocarboxylase Synthetase Deficiency
Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, 3-hydroxyi... OMIM:253270
Cartilage-Hair Hypoplasia
Anal stenosis, Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Constipation, Esophageal at... OMIM:250250
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena ORPHA:853
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Micronodular cirrhosis, Widely spaced teeth, Ascites, Gingival overgro... OMIM:301072
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Spermatocele, Male infertility, Nephrolithiasis OMIM:301060
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, P... OMIM:193300
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:309120
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Hypospadias, Delayed eruption of teeth, Abnormal fem... ORPHA:235
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, High palate, Anal atre... ORPHA:84
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Congenital Factor Ii Deficiency
Anemia, Menorrhagia ORPHA:325
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Nephrotic syndrome, Conjunctivitis, Heparan sulfate excretion in uri... ORPHA:505248
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Microvesicul... OMIM:619377
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... ORPHA:567546
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... ORPHA:51636
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:77261
Nail-Patella Syndrome
Cleft upper lip, Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndr... OMIM:161200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Hepatic steatosis, O... ORPHA:79259
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidney, Abnor... ORPHA:3320
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia... OMIM:174900
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta... ORPHA:53035
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythrodontia, Leukopenia, Erythroid hype... ORPHA:79277
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr... OMIM:258900
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, U-Shaped uppe... OMIM:147791
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Narrow mouth, Cryptorchidism, Super... ORPHA:83617
Ivic Syndrome
Intestinal malrotation, Leukocytosis, Thrombocytopenia, Anal atresia, Rectovaginal fistula OMIM:147750
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Polycythemia, Abnormal pancreas morpho... ORPHA:116
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Open mouth, Cryptorchidism, Hematuria, Everted lower lip... ORPHA:534
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... ORPHA:125
Aceruloplasminemia
Anemia OMIM:604290
Fryns Syndrome
Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Renal agenesis, Shawl scrotum, Still... OMIM:229850
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pancytopenia, Cryptorchidism, Anemia, Pelvic kidney OMIM:613951
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Polycythemia OMIM:613280
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Diarrhea, Vomiting, Lymphopenia, Abnormal lymphoc... ORPHA:99826
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Constipation, Anemia, Primary hyperparathyroidism OMIM:239200
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Thrombocytopenia ORPHA:99901
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Ascites, Abnormality of the liver, Hematemesis, Thromb... ORPHA:464321
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Cleft upper lip, Persistence of hemoglobin F, Elevated red cel... OMIM:105650
Dyskeratosis Congenita, Digenic
Abnormality of the dentition, Gastroesophageal reflux, Oral leukoplakia, Decreased testicular siz... OMIM:620040
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Thin upper lip vermilion, Micropenis, Thrombocytopenia, Anemi... ORPHA:163979
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Diarrhea, Gastroesophageal reflux, ... ORPHA:221139
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Inc... ORPHA:48435
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... ORPHA:564
Wilson Disease
Hepatic steatosis, Cirrhosis, Hypoparathyroidism, Hepatomegaly, Jaundice, Dysphagia, Increased ur... OMIM:277900
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, ... ORPHA:139411
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutro... ORPHA:99827
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Intestinal bleeding, Oral leukoplakia, Thrombocytopenia, Anemia OMIM:612199
Primary Hyperoxaluria Type 1
Abnormality of the dentition, Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Dec... ORPHA:93598
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... OMIM:266900
Nijmegen Breakage Syndrome
Acute leukemia, Anal stenosis, Autoimmune hemolytic anemia, Deep philtrum, Thrombocytopenia, Anal... ORPHA:647
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Renal insu... OMIM:276700
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Intestinal malrotation,... ORPHA:244
Jacobsen Syndrome
Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti... ORPHA:2308
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Wolfram Syndrome
Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Male hypogonadism, R... ORPHA:3463
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Cleft palate OMIM:613309
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Juvenile Polyposis Of Infancy
High, narrow palate, Hematochezia, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, Pr... ORPHA:79076
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bcard Syndrome
Abnormality of the dentition, Downturned corners of mouth, Thrombocytopenia OMIM:612394
Attrv122I Amyloidosis
Anemia, Left ventricular hypertrophy, Cardiomegaly, Abnormal enteric nervous system morphology ORPHA:85451
Alg12-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Chronic rhi... ORPHA:79324
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Az... ORPHA:2072
Corticosteroid-Binding Globulin Deficiency
Anemia OMIM:611489
Developmental And Epileptic Encephalopathy 50
Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia OMIM:616457
Interstitial Lung And Liver Disease
Hepatic fibrosis, Vomiting, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytos... OMIM:615486
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Long philtrum, Decreased proportion of CD8-positive T cells, Lymphopenia, Ho... ORPHA:508533
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Diarrhea, Exocrine pancreatic insufficien... OMIM:219700
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teeth... ORPHA:487796
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Wars2-Related Combined Oxidative Phosphorylation Defect
Thin upper lip vermilion, High palate, Dysphagia, Thrombocytopenia ORPHA:572798
Yellow Fever
Acute kidney injury, Diarrhea, Vomiting, Pancreatic hyperplasia, Anuria, Leukocytosis, Renal insu... ORPHA:99829
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Smooth philtrum, Glomerulopathy, Megalobl... ORPHA:79282
Cocaine Intoxication
Acute kidney injury, Vomiting, Hematuria, Proteinuria, Nausea, Glomerulonephritis, Tubulointersti... ORPHA:90068
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate cancer, Hype... ORPHA:157794
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenes... ORPHA:93111
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Leukoc... OMIM:274000
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Long philtrum, Hepatitis, Cholestasis, Portal hypertensi... OMIM:610199
Pancreatic And Cerebellar Agenesis
Anemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... OMIM:164280
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Digeorge Syndrome
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Renal dysplasia, High, narr... OMIM:188400
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Constipation, Thrombocytopenia ORPHA:457351
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Parotitis, Microcytic anemia, Thick lower lip vermilion, Splenomegaly, Ch... OMIM:256040
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Malt Lymphoma
Anemia, Constipation, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Ciliary Dyskinesia, Primary, 1
Pneumonia, Chronic sinusitis, Chronic rhinitis, Asplenia, Chronic otitis media, Bronchiectasis, M... OMIM:244400
Gaucher Disease
Splenic infarction, Gingival bleeding, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splen... ORPHA:355
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, Immotile sperm, Rhinitis, ... OMIM:614874
Bohring-Opitz Syndrome
Gastroesophageal reflux, Cleft upper lip, Supernumerary nipple, Intestinal malrotation, Vesicoure... OMIM:605039
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thin upper lip vermilion, Abnormal li... ORPHA:456312
Rothmund-Thomson Syndrome
Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Delayed eruptio... ORPHA:2909
Arteriosclerosis, Severe Juvenile
Anemia, Gastric ulcer OMIM:208060
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... OMIM:619991
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... OMIM:618086
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis, Dysphagia ORPHA:449427
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Chronic otitis media, Recurrent sinusitis, Male infertility OMIM:300991
Spermatogenic Failure 14
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615842
Neuroleptic Malignant Syndrome
Acute kidney injury, Vomiting, Aspiration pneumonia, Leukocytosis, Proteinuria, Myoglobinuria, Th... ORPHA:94093
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Colon cancer, Pancreatic adenocarcinoma, Endometr... ORPHA:144
Cogan Syndrome
Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... ORPHA:1467
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Wide mouth, Hepatic steatosis... OMIM:243910
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... OMIM:154500
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Anal atresia, Hypospadias, Polyc... ORPHA:567
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Ascites, Hepatosplenomegaly, Hypersplenism, Microvesicular ... ORPHA:275761
Tropical Pancreatitis
Vomiting, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, N... ORPHA:103918
Ogden Syndrome
Diarrhea, Everted upper lip vermilion, Recurrent otitis media, Thick upper lip vermilion, Cryptor... OMIM:300855
Schinzel-Giedion Syndrome
Abnormality of the ureter, Streak ovary, Hepatoblastoma, High palate, Dysphagia, Hypospadias, Ann... ORPHA:798
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro... ORPHA:77293
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, High palate, Renal dy... OMIM:266920
Tick-Borne Encephalitis
Vomiting, Leukopenia, Leukocytosis, Thrombocytopenia, Nausea, Dysphagia ORPHA:297
Multiple Mitochondrial Dysfunctions Syndrome 7
Gingival overgrowth, Open mouth, Thrombocytopenia OMIM:620423
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Splenomegaly OMIM:612301
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Dilatatio... OMIM:265380
Von Hippel-Lindau Disease
Polycythemia, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancreatic islet ce... ORPHA:892
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Male sexual dysfunction, Bi... ORPHA:90797
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst... OMIM:616307
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Male infertility, Chronic rhinitis OMIM:618801
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... OMIM:167800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
1P36 Deletion Syndrome
Gastroesophageal reflux, Annular pancreas, Long philtrum, Hypogonadism, Abnormality of the spleen... ORPHA:1606
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Carious teeth, Periodontitis, Conjunctivitis, Abn... ORPHA:2908
Ciliary Dyskinesia, Primary, 34
Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male infertility OMIM:617091
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... ORPHA:90793
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cleft upper lip, Cryptorchidism, Thrombocytopenia, High palate,... ORPHA:3103
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ... ORPHA:99429
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Vesicouret... ORPHA:96149
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... OMIM:301077
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... OMIM:616263
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella OMIM:620197
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Leptospirosis
Acute kidney injury, Uveitis, Diarrhea, Hepatitis, Skin rash, Optic neuritis, Cellular urinary ca... ORPHA:509
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Volvulus, Gastroesophag... OMIM:301111
Spermatogenic Failure 13
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... OMIM:615841
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Atelosteogenesis Type I
Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology ORPHA:1190
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Renal agenesis, Lacrimal gland hypoplasia, Delayed eruption of primary... OMIM:149730
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Lymphatic Malformation 7
Anemia, Ascites OMIM:617300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper l... OMIM:263520
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Neurofibroma
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... ORPHA:252183
Kenny-Caffey Syndrome, Type 2
Anemia, Hypoparathyroidism OMIM:127000
Acute Liver Failure
Acute kidney injury, Diarrhea, Gastrointestinal hemorrhage, Hepatitis, Vomiting, Hepatocellular n... ORPHA:90062
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Exocrine pancreatic insu... OMIM:219800
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Hypogonadism, Agenesis of pe... OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Furrowed tongue, Ves... OMIM:616975
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Constipation, High palate OMIM:618162
Noonan Syndrome 1
High, narrow palate, Dental malocclusion, Juvenile myelomonocytic leukemia, Male infertility, Hyp... OMIM:163950
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Annular pancreas, Thin vermilion borde... ORPHA:264450
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Hypercalciuria, Male infertility ORPHA:2239
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation, Anemia, Ha... OMIM:175050
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Open bite, High palate, Chronic otitis media, Accessory oral frenul... ORPHA:2750
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Hematuria,... ORPHA:95455
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal pol... ORPHA:2929
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormal intestine morphology, Abnormality of the pancreas, Multipl... ORPHA:1318
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Abdominal situs inversus, Male infertility OMIM:619607
Orofaciodigital Syndrome I
Hepatic fibrosis, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of... OMIM:311200
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... ORPHA:48
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Prolonged n... ORPHA:51
Bohring-Opitz Syndrome
Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Cleft lip, Prominent palatine ridg... ORPHA:97297
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Downturned corners of mouth, Ankyloglossia, Duplicated collecting system, Cleft... ORPHA:488642
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea OMIM:615935
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Vomiting, Oliguria, Thrombocytopenia, Nausea ORPHA:466650
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... ORPHA:666
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Cystic Fibrosis
Bronchiectasis, Gastroesophageal reflux, Absent vas deferens, Meconium ileus, Exocrine pancreatic... ORPHA:586
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Oral cavity telangiectasia, Brain abscess, Polycythemia, Tongue telangiectasia, Lip... OMIM:600376
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, He... ORPHA:91
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility 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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