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Gene: Pdia6 MGI:1919103

Gene Summary

Name:

protein disulfide isomerase associated 6

Synonyms:

1700015E05Rik, CaBP5, Txndc7, P5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased CD4-positive NK T cell number	Pdia6^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.000100
increased total body fat amount	Pdia6^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.35×10^-05
enlarged lymph nodes	Pdia6^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
abnormal gait	Pdia6^{tm1b(EUCOMM)Hmgu}	HET	Late adult	5.57×10^-06
preweaning lethality, complete penetrance	Pdia6^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.000134
enlarged thyroid gland	Pdia6^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Pdia6 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.

Human diseases associated with Pdia6 (0 diseases)
Human diseases predicted to be associated with Pdia6 (904 diseases)

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

The table below shows human diseases predicted to be associated to Pdia6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu...	OMIM:300400
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Ovarian neoplasm	OMIM:616534
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia, Goiter	OMIM:274240
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Bangstad Syndrome	Pancytopenia, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Primary gonadal...	OMIM:210740
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter	OMIM:180295
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, Increased circulating IgE level, Lack of T ce...	ORPHA:277
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:603909
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli...	ORPHA:98813
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Increased proportion autoreactive unresponsive CD21-/low B cells...	OMIM:618534
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu...	OMIM:613101
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Glucose intoler...	ORPHA:2298
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul...	ORPHA:100024
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia,...	OMIM:617053
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur...	OMIM:601457
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim...	OMIM:274300
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra...	OMIM:301078
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,...	ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoi...	ORPHA:331206
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Pendred Syndrome	Hyperparathyroidism, Ataxia, Thyroid carcinoma, Hypothyroidism, Goiter	ORPHA:705
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,...	ORPHA:179494
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ...	OMIM:616050
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Female hypogo...	OMIM:208900
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weigh...	ORPHA:507
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c...	ORPHA:1332
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu...	OMIM:269840
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 46	Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri...	OMIM:616740
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease...	ORPHA:169154
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Fail...	OMIM:619151
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased proportion...	OMIM:606367
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Preeclampsia	Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati...	ORPHA:275555
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Abnormal testis morphology, Decreased circulating antibody ...	ORPHA:100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Thrombocytopenia	ORPHA:67048
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c...	ORPHA:158061
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Failure to thrive, Severe B lympho...	OMIM:102700
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula...	ORPHA:95715
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De...	OMIM:619510
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Generalized ly...	OMIM:614700
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Glutaric Aciduria Iii	Hyperthyroidism, Goiter	OMIM:231690
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Noonan Syndrome 12	Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia	OMIM:618624
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Maffucci Syndrome	Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo...	ORPHA:163634
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory...	OMIM:615767
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep...	OMIM:304790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Abnormality...	ORPHA:229717
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Failure to thrive, Pan...	ORPHA:79312
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,...	OMIM:612541
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype...	OMIM:613845
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentra...	OMIM:613179
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Atelis Syndrome 1	Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Hypothyroidism, T...	OMIM:620184
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr...	OMIM:609152
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Goiter	OMIM:188580
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, F...	ORPHA:169160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ...	OMIM:251000
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins...	ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytop...	OMIM:614727
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:424
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadeno...	OMIM:617591
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced na...	ORPHA:540
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r...	ORPHA:79083
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells...	ORPHA:276
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Pediatric-Onset Graves Disease	Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul...	ORPHA:525731
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc...	ORPHA:824
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Thrombocytopenia, Decreased circulating total IgM, Decr...	OMIM:615758
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Diabetes mellitus, Cryptorchidism, Insulin resistance, ...	OMIM:616541
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating...	ORPHA:83313
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypothyroi...	ORPHA:84064
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Decreased...	ORPHA:169105
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:226313
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Polycyst...	ORPHA:2348
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Thrombocytopenia, ...	ORPHA:64743
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia	ORPHA:289916
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neut...	OMIM:606054
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce...	OMIM:616433
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ...	ORPHA:47
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Specific Granule Deficiency 2	Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617475
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong...	ORPHA:83471
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia	OMIM:602361
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis,...	ORPHA:391673
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Elevated circu...	OMIM:614034
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co...	ORPHA:210136
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615108
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo...	ORPHA:125
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Small for gestational age, Hypergonadotropic hypogonadism, Hyperinsul...	ORPHA:79237
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci...	ORPHA:90362
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl...	OMIM:617253
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism...	OMIM:249270
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Whipple Disease	Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Mediastinal lymphadenopat...	ORPHA:3452
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615109
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypog...	OMIM:617575
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t...	ORPHA:90045
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem...	OMIM:614857
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Impaired T cell function, Abnormality of thyroid physiolo...	ORPHA:1830
Immunodeficiency 9	Failure to thrive, Hypoplasia of the thymus	OMIM:612782
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat...	ORPHA:562
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration...	ORPHA:230
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Precocious puberty in females, Insulin res...	ORPHA:528
Felty Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellularity, Ne...	ORPHA:47612
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase...	OMIM:610377
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly	ORPHA:2123
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Abnormal circu...	ORPHA:206572
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,...	OMIM:608104
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cowden Syndrome 7	Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Lig4 Syndrome	Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di...	OMIM:606593
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia, Neutropen...	ORPHA:520
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Stt3B-Cdg	Cryptorchidism, Failure to thrive, Thrombocytopenia	ORPHA:370924
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne...	ORPHA:391487
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Cirr...	ORPHA:905
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Failure to thrive, Thrombocytopenia	OMIM:615597
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto...	OMIM:618886
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody l...	ORPHA:353298
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Increased circulating IgA lev...	OMIM:615934
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating ...	OMIM:616638
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f...	OMIM:614576
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:79085
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles...	ORPHA:292
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,...	ORPHA:398124
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251110
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased...	ORPHA:435660
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D...	ORPHA:280365
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation...	ORPHA:276580
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Partial absence of specific antibody ...	ORPHA:79324
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, C...	OMIM:620005
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli...	ORPHA:276575
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestational age, Refractory siderobla...	OMIM:557000
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem...	OMIM:277380
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnorma...	ORPHA:443811
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt...	ORPHA:3322
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea...	ORPHA:1572
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypopl...	ORPHA:453533
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, ...	OMIM:260400
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Cryptorchidism, Insulin resistance, Male h...	OMIM:615381
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se...	ORPHA:71526
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Hypoal...	OMIM:617303
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Lympho...	OMIM:616395
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Neutropenia, ...	ORPHA:1667
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva...	ORPHA:90051
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes...	ORPHA:436252
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy	OMIM:114580
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Insulin resistance, Failure to thrive, Small for gestational age	OMIM:214150
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin...	OMIM:251100
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia, Weight loss	ORPHA:79242
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel...	OMIM:242860
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Ataxia, Gait ataxia, Gait disturbance, Hypothyroidism, Goiter	ORPHA:254892
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Hypoglycemia, Thrombocytopenia	OMIM:611126
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabe...	OMIM:208085
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Failure to thrive in infancy, Leukocytosis, Peritonitis, Abn...	ORPHA:810
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukopenia, Bone m...	OMIM:603467
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy...	OMIM:613990
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Absent circulating ...	OMIM:307200
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ...	ORPHA:96181
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:600901
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Failure to th...	OMIM:617941
Alg8-Cdg	Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:79325
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Increased circulating IgE level, Increased ...	OMIM:615816
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat...	ORPHA:160
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S...	ORPHA:276399
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:227650
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Thrombocytopenia	ORPHA:449285
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Cryp...	OMIM:301056
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:480520
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Jaundice, Failure to thrive, Thrombocytopenia	OMIM:251290
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Elevated circulating C-re...	OMIM:619381
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:227645
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Microcytic a...	ORPHA:2959
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ataxia, Abnormality of the thyroid ...	ORPHA:209905
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi...	OMIM:618775
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Failure to thrive, Throm...	ORPHA:974
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pancreatic steato...	OMIM:617052
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia...	ORPHA:358
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreas...	OMIM:201100
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating creatine ki...	OMIM:242840
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Brucellosis	Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Elevated circulating C-reac...	ORPHA:1304
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:79330
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Leukocytosis, Hypercholesterolemia, Hyperglycemia, Hypothyroidism	ORPHA:90065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries	ORPHA:371428
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocyto...	ORPHA:134
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyr...	OMIM:188400
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli...	ORPHA:769
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Legionnaires Disease	Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly...	ORPHA:549
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:301074
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal jaundice, Hypothyroidism, Thro...	OMIM:225750
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,...	ORPHA:331235
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Beemer-Ertbruggen Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:1237
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O...	ORPHA:813
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp...	ORPHA:465508
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight loss, Lymphad...	ORPHA:781
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Impaired T cell function, Abnormality of the tonsils, Abnorm...	ORPHA:567
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop...	ORPHA:733
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Cowden Syndrome	Ataxia, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gla...	ORPHA:201
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper...	OMIM:256040
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Fulminant hepatitis, Leukope...	ORPHA:319213
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:230900
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular...	OMIM:162300
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le...	ORPHA:297
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp...	ORPHA:653
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p...	ORPHA:77261
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi...	ORPHA:79078
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Hypoalbuminemi...	ORPHA:505248
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:277900
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Annular ...	OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Jaundice, Hyperamm...	ORPHA:79282
Branchiootorenal Syndrome 1	Euthyroid goiter	OMIM:113650
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Inc...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Werner Syndrome	Insulin resistance, Ovarian neoplasm, Thyroid carcinoma, Type II diabetes mellitus, Hypogonadism,...	ORPHA:902
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu...	ORPHA:263455
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased body weight, Thrombocytopenia	OMIM:608013
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Short Syndrome	Insulin resistance, Diabetes mellitus, Weight loss	ORPHA:3163
Fanconi Anemia, Complementation Group B	Hypogonadism, Hypergonadotropic hypogonadism, Aplastic anemia, Thrombocytopenia	OMIM:300514
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Pseudo-Torch Syndrome 2	Hepatomegaly, Thrombocytopenia	OMIM:617397
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Thyroiditis, Biliary cirrhosis, Decreased...	ORPHA:289390
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla...	ORPHA:96253
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic...	ORPHA:464343
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Peritonitis, Elevated circulating cr...	ORPHA:36234
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly, Hep...	ORPHA:333
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty...	ORPHA:3085
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Diabetes melli...	ORPHA:544482
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Noonan Syndrome 4	Cryptorchidism, Thrombocytopenia, Large for gestational age	OMIM:610733
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, T...	ORPHA:861
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulatin...	ORPHA:83617
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Cryptorchidism, Giant platelets, Anemia, Thrombocytopenia	OMIM:611209
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth...	OMIM:607944
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt...	ORPHA:1775
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Leprechaunism	Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp...	ORPHA:508
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Neonatal hypoglycemia	ORPHA:572798
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Perlman Syndrome	Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly	ORPHA:2849
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity	OMIM:618406
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia,...	OMIM:609069
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,...	OMIM:209900
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr...	ORPHA:228119
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Failur...	ORPHA:46059
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Failure to thrive in infancy, Hypoplastic nipples, Anemia	ORPHA:261323
Toxic Epidermal Necrolysis	Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:537
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Elevated circulating creatine kinase concent...	ORPHA:99827
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Severe failure to thrive, Pancre...	OMIM:246200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Rift Valley Fever	Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th...	ORPHA:319251
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty	ORPHA:90154
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Stevens-Johnson Syndrome	Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia	ORPHA:36426
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	OMIM:608594
Hardikar Syndrome	Intrahepatic bile duct dilatation, Hepatomegaly, Decreased serum insulin-like growth factor 1, In...	OMIM:301068
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypogly...	OMIM:602579
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycem...	ORPHA:79319
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir...	ORPHA:99829
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Decreased body weight, Thromboc...	OMIM:619005
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Thrombocytopenia	OMIM:301072
Noonan Syndrome 14	Cryptorchidism, Lymphopenia	OMIM:619745
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Spleno...	OMIM:181000
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ...	OMIM:619525
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Cryptorchidism	OMIM:616737
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Small for gestational age, Cryptorchidism, Hypoplasia of the thymus, Increa...	OMIM:264090
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Hypercalcemia, Eosinophilia, Diabetes...	ORPHA:797
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia	OMIM:300952
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia, Breast aplasia	ORPHA:90153
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ...	ORPHA:2136
Thyroid Ectopia	Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid	ORPHA:95712
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Hyperkalemia, ...	ORPHA:340
Gaucher Disease	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopen...	ORPHA:355
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Khan-Khan-Katsanis Syndrome	Lymphopenia, Failure to thrive, Anemia, Neutropenia	OMIM:618460
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome...	ORPHA:2072
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multinodular goiter	OMIM:620189
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Anemia, Leukopenia, Bone marrow hypocellula...	OMIM:305000
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy...	ORPHA:3047
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ...	ORPHA:731
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Small for gestational age, Insulin resistance, ...	OMIM:606721
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma...	ORPHA:1359
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a...	OMIM:274000
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia	OMIM:619708
Dubowitz Syndrome	Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblastic leukemia, Ane...	ORPHA:235
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thrombocytopenia, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Anemia	ORPHA:163979
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia	ORPHA:647
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Failure to thrive, Thrombocytopenia	OMIM:147791
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Abnormality of the liver, Hyperbilirubinemia	ORPHA:464321
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation	ORPHA:99776
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Weight loss, Leukop...	ORPHA:84
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic le...	ORPHA:51
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the endocrine system, Thrombocytopenia, Abnormality of the lymphatic system, Incre...	ORPHA:487796
Acute Liver Failure	Hypoglycemia, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular necrosis, Hepatic necrosis, Adr...	ORPHA:90062
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Anemia, Abnormal circulating ca...	ORPHA:534
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,...	ORPHA:300373
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ...	OMIM:248370
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a...	OMIM:618131
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista...	ORPHA:79318
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Impaired neutrophil chemotaxis, Perianal abscess, Leukocytosis, Recurrent...	ORPHA:2968
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Cornelia De Lange Syndrome 1	Cryptorchidism, Hypoplastic nipples, Thrombocytopenia	OMIM:122470
Ogden Syndrome	Maternal diabetes, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Hydrocele testis, ...	OMIM:300855
Meckel Syndrome, Type 1	Accessory spleen, Adrenal hypoplasia, Malformation of the hepatic ductal plate, Asplenia, Splenom...	OMIM:249000
Jacobsen Syndrome	Cryptorchidism, Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia	ORPHA:509
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep...	ORPHA:564
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive	OMIM:306955
Roberts Syndrome	Cryptorchidism, Thrombocytopenia	ORPHA:3103
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone...	OMIM:176270
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t...	ORPHA:740
Phace Association	Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism	ORPHA:221120
Atypical Werner Syndrome	Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Abnormal circulati...	ORPHA:79474
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia, ...	ORPHA:2237
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Osteogenesis Imperfecta	Small for gestational age, Thrombocytopenia	ORPHA:666
Phace Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:42775
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged...	ORPHA:744
Stüve-Wiedemann Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:3206
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Small for gestational age, Impaired T cell function, Delayed puberty	OMIM:176690
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop...	ORPHA:2166
Charge Syndrome	Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:214800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Adrenal hypoplasia	OMIM:308050
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Impaired T cell function	OMIM:192430
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Broad-based gait, Decreased response to growth hormone stimulation test, Crypto...	OMIM:619503
Pallister-Hall Syndrome	Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h...	ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Failure to thrive	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Decreased body ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Failure to thrive	ORPHA:261552

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 Pdia6

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 Pdia6.

No publications found that use IMPC mice or data for Pdia6.

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

MGI Allele	Allele Type	Produced
Pdia6^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pdia6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdia6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pdia6 MGI:1919103

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Pdia6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data