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Gene: Nlrp1a MGI:2684861

Gene Summary

Name:

NLR family, pyrin domain containing 1A

Synonyms:

Nalp1

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
abnormal eye morphology	Nlrp1a^em1(IMPC)Mbp	HOM	Early adult
abnormal heart morphology	Nlrp1a^em1(IMPC)Mbp	HOM	Early adult
microphthalmia	Nlrp1a^em1(IMPC)Mbp	HOM	Early adult
enlarged heart	Nlrp1a^em1(IMPC)Mbp	HOM	Early adult

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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Human diseases caused by Nlrp1a 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 Nlrp1a (4 diseases)
Human diseases predicted to be associated with Nlrp1a (1813 diseases)

The table below shows human diseases associated to Nlrp1a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Chronic rhinitis	OMIM:615225
Respiratory Papillomatosis, Juvenile Recurrent, Congenital		OMIM:618803
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1		OMIM:606579

The table below shows human diseases predicted to be associated to Nlrp1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency With Defective T-Cell Response To Interleukin 1	Recurrent otitis media, Recurrent pneumonia	OMIM:243110
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Immunodeficiency 15B	Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreas...	OMIM:615592
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobulinemia	OMIM:269840
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
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
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l...	OMIM:618108
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I...	OMIM:615767
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Increased circulating IgE level, Lack of T cell function, Abnormality of humor...	ORPHA:277
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De...	OMIM:619510
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ...	OMIM:618987
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki...	OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Abnormal lung morp...	ORPHA:549
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu...	ORPHA:139402
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Ethanolaminosis	Cardiomegaly	OMIM:227150
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
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
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effus...	ORPHA:292
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
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
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased circulating I...	ORPHA:98813
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne...	ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormal immunoglobulin le...	ORPHA:276
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Hypotension, Cough...	ORPHA:188
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Congestive heart failure, Lymphadeno...	ORPHA:3386
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Hyperhidrosis, ...	ORPHA:83317
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Redu...	OMIM:616050
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Mahvash Disease	Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia	OMIM:619290
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel...	OMIM:242860
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,...	OMIM:618254
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l...	OMIM:602450
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Situs inversus totalis, Bronchiectasis, Decrease...	OMIM:612444
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa...	ORPHA:809
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Herpes simplex encephalitis	OMIM:610551
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato...	OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Trimethylaminuria	Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ...	ORPHA:3099
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Ap...	OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:300991
Chylous Ascites	Pancreatitis	ORPHA:1160
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Hypertension	ORPHA:79084
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatit...	ORPHA:79312
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu...	OMIM:615451
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Immunodeficiency 54	Splenomegaly, Failure to thrive, Reduced natural killer cell count	OMIM:609981
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnormality of the liv...	ORPHA:1304
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:608644
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Myocard...	ORPHA:3452
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonar...	ORPHA:206569
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Abnormal pericar...	ORPHA:183
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Elevated circulating alanine aminotransferase concentrat...	OMIM:618805
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma...	ORPHA:158057
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis...	ORPHA:2552
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia	OMIM:616022
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar...	ORPHA:1163
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615504
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, I...	ORPHA:443811
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to...	ORPHA:47
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Cardiom...	ORPHA:27
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Thrombocyt...	ORPHA:47612
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased...	OMIM:616005
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Shock, Skin rash, Maculopapular exanthema, C...	ORPHA:319213
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Immunodeficiency 22	Failure to thrive, Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulat...	OMIM:615758
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti...	OMIM:620032
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia...	ORPHA:572
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Respiratory insufficiency	OMIM:618230
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio...	ORPHA:454836
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial...	ORPHA:60033
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Melioidosis	Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Kawasaki Disease	Pericarditis, Skin rash, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lym...	ORPHA:2331
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss...	ORPHA:449400
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Congestive heart failure, Peritonitis, M...	ORPHA:139507
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Pancreatitis	OMIM:620137
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Increased cir...	ORPHA:99827
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615505
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi...	OMIM:616100
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Relapsing Polychondritis	Episcleritis, Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas...	OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnorma...	ORPHA:3392
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Acute Lung Injury	Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,...	ORPHA:178320
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis...	OMIM:617092
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss	ORPHA:2902
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne...	OMIM:152700
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit...	OMIM:614017
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Increased circulating IgG level, De...	OMIM:618495
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Hypohidrosis	ORPHA:363523
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat...	ORPHA:676
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopen...	OMIM:251000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Mel...	ORPHA:319218
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Ca...	OMIM:606054
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Increased circulating IgE level, Incr...	OMIM:615816
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ly...	ORPHA:50918
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Immunodeficiency 31B	Herpes simplex encephalitis	OMIM:613796
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash, Pleuritis	OMIM:609939
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency...	OMIM:301074
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion	OMIM:602248
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Immunodeficiency 31A	Herpes simplex encephalitis	OMIM:614892
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas...	ORPHA:727
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne...	ORPHA:37042
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea...	OMIM:167800
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron...	OMIM:604571
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microlissencephaly	Pneumonia	ORPHA:1083
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE ...	OMIM:256500
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory...	ORPHA:97244
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615500
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e...	ORPHA:85414
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent skin i...	OMIM:620210
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ...	ORPHA:3260
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertension	OMIM:608600
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke...	ORPHA:157991
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:608647
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia	OMIM:247610
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Anemia	OMIM:610090
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br...	ORPHA:449280
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Au...	OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Hypothyroidis...	ORPHA:83471
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Cough, Situs inversus ...	OMIM:616037
Immunodeficiency 46	Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decr...	OMIM:616740
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Colchicine Poisoning	Respiratory distress, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Cardiores...	ORPHA:31824
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Decrease...	ORPHA:79124
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Systemic Lupus Erythematosus 17	Lymphopenia, Hypertensive crisis, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopen...	OMIM:301080
Yao Syndrome	Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, X...	OMIM:617321
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr...	ORPHA:37748
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Patent foramen ovale, Infectious encephalitis, Autoimmune thrombocytopenia, He...	ORPHA:391487
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-...	OMIM:608233
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopath...	OMIM:301078
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas...	ORPHA:90291
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med...	OMIM:613193
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:613808
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers...	OMIM:613807
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Adrenocorticotropin deficient adrenal insufficie...	ORPHA:199296
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne...	ORPHA:36238
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Increased circulating IgE level	OMIM:616069
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hypertensive crisis, Brain abscess, Pneumonia, Respiratory tract infection, Myo...	ORPHA:544482
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ...	OMIM:614868
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Pneumothorax,...	OMIM:612387
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo...	ORPHA:398124
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Incr...	ORPHA:507
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Abnormality of thyroid physiology, Minimal c...	ORPHA:1830
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, An...	OMIM:604250
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid...	OMIM:269200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti...	OMIM:614935
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steato...	ORPHA:2348
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Cirrhosis, Hypertrophic cardi...	ORPHA:79083
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Constrictive pericarditis	OMIM:208250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi...	ORPHA:3342
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ...	ORPHA:228426
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot...	OMIM:615444
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Stevens-Johnson Syndrome	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Gastroint...	ORPHA:36426
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Reduced natural ...	ORPHA:540
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstructi...	ORPHA:900
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Nanophthalmos	Microphthalmia	ORPHA:35612
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Cach Syndrome	Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Elevated circulating aspartate aminotransfe...	ORPHA:466677
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia...	ORPHA:221
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced...	OMIM:613385
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Lead Poisoning	Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno...	ORPHA:330015
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo...	ORPHA:133
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Os...	ORPHA:342
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Increa...	OMIM:617099
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Jaundice, Gallbladder perforation, Elevated circulati...	ORPHA:521219
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Elevated hepatic t...	ORPHA:537
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Increased circulating IgM level, Granulomatous cholangitis, Ulcera...	ORPHA:562639
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Babesiosis	Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Recurrent pharyngi...	ORPHA:108
Nanophthalmos 4	Microphthalmia	OMIM:615972
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
3-Methylglutaconic Aciduria Type 1	Hypoglycemia	ORPHA:67046
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Thrombocytopenia	ORPHA:67048
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomy...	OMIM:602390
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ...	ORPHA:589
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, ...	OMIM:619487
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Sandhoff Disease	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure	ORPHA:796
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Anemia, Malar rash, Serositi...	ORPHA:231111
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Cardiomyopathy, Hypertension, Pleuritis	ORPHA:767
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Abnormal pericardium m...	ORPHA:67
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec...	OMIM:620197
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis	ORPHA:99825
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Splenomegal...	ORPHA:77260
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic ane...	OMIM:615846
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism,...	OMIM:617577
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp...	OMIM:617591
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Ab...	ORPHA:99745
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Maple Syrup Urine Disease	Pancreatitis	OMIM:248600
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R...	OMIM:620321
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3469
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Increased circulating IgG ...	ORPHA:449395
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right...	ORPHA:97287
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Congestive heart failur...	ORPHA:26791
Lichen Planopilaris	Hepatitis	ORPHA:525
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Pancreatitis	OMIM:145981
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic...	OMIM:244400
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Hypertension, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Marburg Hemorrhagic Fever	Nonproductive cough, Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Re...	ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Bronchiectasis	ORPHA:477814
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal...	ORPHA:70588
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Hepatic ...	ORPHA:186
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Increased circulating IgE level	OMIM:614328
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau...	OMIM:613404
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch...	ORPHA:440713
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia	ORPHA:664
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Respiratory insufficiency, A...	OMIM:222700
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve...	ORPHA:319251
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocyto...	ORPHA:20
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl...	ORPHA:98850
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Jaundice, Increased circulating lactate dehydrogenase conc...	ORPHA:370348
Glycogen Storage Disease Vi	Hypoglycemia	OMIM:232700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth...	OMIM:249100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi...	OMIM:601005
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fasting hypoglycemia	ORPHA:171706
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok...	ORPHA:158048
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity	ORPHA:3409
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Failure to thrive, Decreased circulating IgG level,...	ORPHA:275
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia	OMIM:617872
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephrit...	ORPHA:93126
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Recurrent respiratory infections, Skin rash, Cheilitis, Hepatiti...	ORPHA:1334
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate...	ORPHA:98826
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis, Myocardial infarction, Mitral valve prolapse	OMIM:236200
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Ascites	ORPHA:584
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Decreased a...	OMIM:228000
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Follicular hyperplasia, Pustu...	OMIM:615934
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R...	OMIM:615468
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis	OMIM:121300
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp...	ORPHA:276608
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Hyperhidrosis,...	ORPHA:391
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Familial Chylomicronemia Syndrome	Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Neonatal Hemochromatosis	Hypoglycemia	ORPHA:446
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Cardiomyopathy, Hype...	ORPHA:79086
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia	ORPHA:319552
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:470
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Acute lymphoblastic leukemia, T ...	OMIM:208900
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Decreas...	OMIM:203800
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Decreased liver function, Hepatomegaly	OMIM:238970
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis, Hepatomega...	ORPHA:79259
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia	ORPHA:293964
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno...	ORPHA:3162
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti...	ORPHA:169090
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytos...	ORPHA:90038
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Mccune-Albright Syndrome	Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatocellular ...	ORPHA:562
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Increased circulating IgG4 level, Keratitis, Orchitis, Retr...	ORPHA:449563
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Boutonneuse Fever	Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia	ORPHA:83313
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Atelis Syndrome 1	Ventricular septal defect, Eczema, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Hypo...	OMIM:620184
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi...	ORPHA:276580
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypothyroidism, Pancreatitis	ORPHA:412057
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Decreased beta-galactosidase activity	OMIM:230350
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Decrea...	OMIM:240300
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen...	OMIM:610199
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect	OMIM:602271
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eczema, Eosinophilia, Sple...	OMIM:616651
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,...	ORPHA:509
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormal EKG, Keratitis, Myocarditis, Jaundice, Splenomegaly, Congest...	ORPHA:3385
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co...	ORPHA:280365
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
X-Linked Sideroblastic Anemia	Dyspnea, Splenomegaly, Anemia, Elevated hepatic transaminase	ORPHA:75563
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia	OMIM:261750
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar...	ORPHA:79126
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity	ORPHA:66628
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Toxoplasmosis	Microphthalmia, Hepatomegaly, Cardiomegaly	ORPHA:858
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom...	OMIM:246400
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:618652
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Mediastinal...	OMIM:620233
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Glycogen Storage Disease Ic	Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Spider hemangioma, Recurr...	OMIM:232240
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa...	ORPHA:26793
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Jaundice, Xerostomia, Respiratory insufficie...	ORPHA:779
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Angina pectoris, Hypothyroidism, Gout, Hepatic steatosis	ORPHA:412
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransfera...	ORPHA:99829
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Cough	OMIM:619468
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Perica...	ORPHA:77259
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Gout, Hypertension, Hepatocellular carcinoma, Pancre...	OMIM:232200
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Weight loss, Decreased circulating total IgM, ...	ORPHA:90362
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy...	OMIM:615688
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity	ORPHA:179494
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Decreased circ...	ORPHA:199299
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal...	ORPHA:290
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Spl...	OMIM:612852
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a...	ORPHA:77297
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,...	ORPHA:448237
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Abnormal heart valve morphology, Pericardial effusion, Spl...	ORPHA:36412
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Glycogen Storage Disease Ixa1	Splenomegaly, Hypoglycemia	OMIM:306000
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory failure,...	ORPHA:1194
Diarrhea 12, With Microvillus Atrophy	Respiratory tract infection, Bronchiectasis	OMIM:619445
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Hyperhidrosis, Lymphadenopathy	ORPHA:86893
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia	OMIM:618838
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative...	ORPHA:48435
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ...	ORPHA:276575
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Atrial septal defect, Asthma, Pancreatitis	OMIM:619471
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ventricular septal defect	OMIM:613730
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H...	OMIM:612541
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Hypertension, Cirrhosis...	OMIM:215600
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing...	ORPHA:95430
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Neonatal hypoglycemia	ORPHA:231140
Mehmo Syndrome	Hypoglycemia	OMIM:300148
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Telangiectasia of the skin, Decr...	ORPHA:100
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Restrictive ...	ORPHA:575
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Mitral valve calcification, Abnormal pericardium morph...	ORPHA:355
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia	OMIM:618253
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Keratitis, Spleno...	ORPHA:525731
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart...	ORPHA:508542
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp...	ORPHA:247691
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Hypop...	ORPHA:436252
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert...	OMIM:253700
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem...	ORPHA:91547
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,...	ORPHA:1451
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,...	ORPHA:454831
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respirato...	ORPHA:29207
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo...	OMIM:214500
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxi...	ORPHA:420741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Telangiectas...	OMIM:604173
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Elev...	OMIM:613489
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Pancreatitis	OMIM:600740
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp...	OMIM:607944
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, D...	OMIM:615895
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia	ORPHA:6
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia	ORPHA:79096
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a...	OMIM:277900
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto...	ORPHA:93672
Insulin-Resistance Syndrome Type B	Increased circulating IgA level, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant ...	ORPHA:2298
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ...	OMIM:186580
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg...	OMIM:617303
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure...	OMIM:235200
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Propionic Acidemia	Hypoglycemia	ORPHA:35
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Glycogen Storage Disease Ixc	Splenomegaly, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased circulating a...	ORPHA:293978
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Hepatic failure, Ascit...	ORPHA:75233
Diarrhea 13	Recurrent hypoglycemia	OMIM:620357
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Pericardial effusion, Raynaud phen...	ORPHA:93552
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Impaired T ...	OMIM:614576
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis	ORPHA:91546
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia	OMIM:246900
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:79159
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hemochromatosis, Neonatal	Hypoglycemia, Hepatocellular necrosis	OMIM:231100
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Smith-Kingsmore Syndrome	Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased T cell activation, Leu...	OMIM:242840
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Elevated circulating alkaline phosphatase ...	OMIM:618268
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Ab...	ORPHA:79264
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveiti...	ORPHA:247353
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia	ORPHA:26792
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Heart murmur, Abnormal heart morphology	ORPHA:1867
Reni Syndrome	Lymphopenia, Hypoglycemia	OMIM:617575
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Decreased circulating total IgM, Ischem...	OMIM:182410
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia	OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Cardiac conduction abnormality, Dilated cardi...	ORPHA:550
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Herpes simplex encephalitis,...	ORPHA:83597
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Hypoglycemia, Decreased circula...	OMIM:615577
Mirage Syndrome	Hypoglycemia, Thrombocytopenia, Patent ductus arteriosus, Leukopenia, Hypoplastic spleen, Lymphop...	OMIM:617053
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Patent ductus arterios...	OMIM:620005
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos	OMIM:619318
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent otitis media, Lymphop...	OMIM:605309
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous candidiasis, K...	OMIM:158310
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Giant Cell Arteritis	Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Recurrent pharyngitis,...	ORPHA:397
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, Ci...	OMIM:608594
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis...	ORPHA:90062
Combined Malonic And Methylmalonic Acidemia	Hypoglycemia	ORPHA:289504
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splen...	OMIM:613471
Cofs Syndrome	Microphthalmia	ORPHA:1466
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Neonatal hypoglycemia	OMIM:619046
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
2P21 Microdeletion Syndrome	Hypoglycemia	ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Increased circulating IgE level	OMIM:615508
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Combined Oxidative Phosphorylation Deficiency 47	Hypoglycemia	OMIM:618958
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia	OMIM:620365
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Card...	ORPHA:98908
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Low cholester...	OMIM:607625
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Peri...	ORPHA:167
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa...	OMIM:181000
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:93267
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa...	ORPHA:415
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Hypothyroidism, ...	OMIM:212065
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur...	ORPHA:97279
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dyspnea	ORPHA:90037
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Hypoglycemia, Neutropenia	OMIM:618005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Anemia	OMIM:618839
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Right ventricular failure, Chylous ascites, Decreased circulati...	ORPHA:90363
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron...	ORPHA:980
Classic Galactosemia	Abnormal erythrocyte enzyme level, Hypoglycemia	ORPHA:79239
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr...	OMIM:210250
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Thrombocytopenia, Leukocytosis, Spleno...	ORPHA:90051
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Small for gestational age, Microcytic anemia	ORPHA:2959
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Anemia	OMIM:246450
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypoglycemia	ORPHA:369
Galactokinase Deficiency	Hyperinsulinemia, Hypoglycemia, Hepatosplenomegaly	ORPHA:79237
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Fluctuating splen...	OMIM:610377
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Anemia, Leukopenia, Bone marrow...	OMIM:603467
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:615160
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Atrioventricu...	OMIM:619573
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibro...	ORPHA:84064
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnorma...	ORPHA:464329
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hypoglycemia, Hyperglycemia	ORPHA:134
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Cystic Echinococcosis	Eosinophilia, Abscess, Weight loss, Increased circulating antibody level, Splenic cyst, Peritonea...	ORPHA:400
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypertension	OMIM:151660
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive hea...	ORPHA:465508
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Pierpont Syndrome	Microphthalmia	OMIM:602342
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia	ORPHA:204
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Patent ductus arteriosus, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Aortic regurgitation	ORPHA:93474
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts	OMIM:617425
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Skin rash, Hypotension, Infectious encephalitis	ORPHA:33475
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neonatal hypog...	ORPHA:263455
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, T...	OMIM:253260
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia	OMIM:261680
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl...	ORPHA:733
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Microphthalmia, Paten...	OMIM:618494
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Hartnup Disease	Skin rash, Infectious encephalitis	ORPHA:2116
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract infec...	ORPHA:583
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:99880
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Congestive heart failu...	ORPHA:354
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia	OMIM:614739
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Pyruvate Dehydrogenase E3 Deficiency	Hypoglycemia	ORPHA:2394
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hepatic necrosis, Hypoketotic hypoglycemia	OMIM:231530
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Parathyroid Carcinoma	Shortened QT interval, Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:143
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Patent ductus arteriosus, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:607143
Laron Syndrome	Hypoglycemia	ORPHA:633
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia	OMIM:245400
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Glycogen Storage Disease Ixd	Hypoglycemia	OMIM:300559
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy	ORPHA:335
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia	OMIM:616271
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper...	OMIM:252900
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimu...	OMIM:602782
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Splenomegaly,...	OMIM:309900
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Mitral valve calcification, Abnorma...	ORPHA:77261
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Mastocytosis, Arrh...	ORPHA:2135
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Hy...	ORPHA:71493
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Familial Hypocalciuric Hypercalcemia	Pancreatitis	ORPHA:405
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Dyspnea, Abnormal T cell ...	OMIM:242900
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia, Anemia	ORPHA:230
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Meckel Syndrome, Type 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:611134
Infantile Liver Failure Syndrome 2	Hypoglycemia	OMIM:616483
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,...	ORPHA:29073
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat...	OMIM:232300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia	ORPHA:42
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl...	OMIM:253200
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Mitral regurgitation	OMIM:617809
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Failure to thrive, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Blue Diaper Syndrome	Recurrent hypoglycemia, Increased proinsulin:insulin ratio	ORPHA:94086
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Infectious encephalitis	ORPHA:2481
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Trichinellosis	Increased circulating IgE level	ORPHA:863
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f...	OMIM:609053
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormo...	ORPHA:2796
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia	ORPHA:73272
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat...	OMIM:613327
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Hsd10 Disease, Infantile Type	Hypoglycemia	ORPHA:391428
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Kapur-Toriello Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor...	ORPHA:760
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia	ORPHA:156
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Fasting hypoglycemia, Anemia	ORPHA:264580
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulating antib...	ORPHA:284
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Increased circulating lactate dehydrogenase concentra...	ORPHA:94093
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
New-Onset Refractory Status Epilepticus	Infectious encephalitis	ORPHA:363558
Caffey Disease	Increased circulating antibody level	ORPHA:1310
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:79644
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,...	ORPHA:71212
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function	ORPHA:30
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Fructose-1,6-Bisphosphatase Deficiency	Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia	ORPHA:348
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Splenomegaly, Recurrent hypoglycemia, Fasting hypoglycemia, Anemia	ORPHA:79240
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash, Hyperhidrosis	ORPHA:53715
Shashi-Pena Syndrome	Patent ductus arteriosus, Hypoglycemia	OMIM:617190
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Carnitine-Acylcarnitine Translocase Deficiency	Hypoglycemia, Neonatal hypoglycemia	OMIM:212138
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia	ORPHA:2126
D-Glyceric Aciduria	Patent ductus arteriosus, Hypoglycemia	OMIM:220120
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Cardiomyopathy, Optic nerve hypoplasia	ORPHA:370959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul...	OMIM:619418
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia	OMIM:609069
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor...	ORPHA:297
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Hepatic fibrosis, El...	ORPHA:64
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration...	ORPHA:35069
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hypoglycemia	OMIM:201450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia	OMIM:616817
Refsum Disease	Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Chops Syndrome	Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia,...	OMIM:616368
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo...	ORPHA:90041
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Glycosuria	OMIM:616026
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Tachycardia, Skin rash, Erythema nodosum, Lympha...	ORPHA:707
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Cog8-Cdg	Hypoglycemia	ORPHA:95428
Hennekam Syndrome	Recurrent respiratory infections, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss	ORPHA:2905
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Decreased circulating IgA level	ORPHA:457485
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, R...	ORPHA:761
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia	OMIM:606407
Bachmann-Bupp Syndrome	Hypoglycemia	OMIM:619075
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Acth Deficiency, Isolated	Fasting hypoglycemia	OMIM:201400
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Arrhy...	ORPHA:68
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Hypoglycemia, Glycosuria	OMIM:231680
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi...	OMIM:123700
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira...	ORPHA:586
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
3P25.3 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Leigh Syndrome	Hypoglycemia, Anemia, Neutropenia	ORPHA:506
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Thrombocytopenia	ORPHA:99901
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Japanese Encephalitis	Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM level, Respiratory...	ORPHA:79139
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Abnormal isohemag...	ORPHA:99843
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Lymphopenia, Hypothyroidism	OMIM:158350
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Increased circulating IgM level, ...	ORPHA:505248
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Viss Syndrome	Patent ductus arteriosus, Increased circulating IgE level, Hypereosinophilia, Increased circulati...	OMIM:619472
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Oculofaciocardiodental Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse	ORPHA:2712
Pituitary Hormone Deficiency, Combined, 6	Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia...	OMIM:619708
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failure, Hypovolemi...	ORPHA:2912
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Aspiration pneumonia	OMIM:616430
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Decreased circulating cortisol level, Pneumonia	ORPHA:90790
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia	OMIM:614736
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Al Amyloidosis	Howell-Jolly bodies, Increased circulating antibody level, Anemia, Weight loss	ORPHA:85443
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia	OMIM:210200
Cerebral Visual Impairment	Intracranial hemorrhage, Infectious encephalitis, Ischemic stroke	ORPHA:447788
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Neonatal hypoglycemia, Hypochromic microcytic anemia	ORPHA:66634
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Abnormal mitral valve morphology, Adenoiditis, ...	ORPHA:581
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Incontinentia Pigmenti	Skin rash, Eosinophilia, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retinal...	ORPHA:464
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma	ORPHA:73230
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten...	OMIM:606721
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Cholera	Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation	ORPHA:173
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Silver-Russell Syndrome 1	Fasting hypoglycemia	OMIM:180860
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia	ORPHA:2728
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Occipital Horn Syndrome	Cholestasis, Jaundice, Hepatitis, Esophagitis	ORPHA:198
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	ORPHA:646
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Marden-Walker Syndrome	Microphthalmia, Dextrocardia	OMIM:248700
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia	OMIM:617049
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia	OMIM:229700
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia	OMIM:608836
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Ventricular septal defect	ORPHA:251038
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Hypoglycemia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Pituitary Apoplexy	Normochromic anemia, Hypoglycemia	ORPHA:95613
Congenital Disorder Of Glycosylation, Type Iie	Splenomegaly, Hypoglycemia	OMIM:608779
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure...	ORPHA:95455
Monosomy 18P	Microphthalmia	ORPHA:1598
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumo...	ORPHA:309282
Kapur-Toriello Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:244300
Temtamy Syndrome	Microphthalmia	OMIM:218340
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia	OMIM:620300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Rodrigues Blindness	Microphthalmia	OMIM:268320
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect	OMIM:614424
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration...	ORPHA:1018
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Microcytic anemia, Increased circulating IgG level, Conjunctivitis, Hepatomegaly, E...	OMIM:256040
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Endocardial fibroelasto...	ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Glutaric Acidemia I	Hypoglycemia	OMIM:231670
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Adams-Oliver Syndrome	Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology	ORPHA:974
Moebius Syndrome	Microphthalmia	OMIM:157900
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud phenomenon, Cervical lym...	ORPHA:324625
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Weight loss	ORPHA:90003
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Thrombocytopenia	ORPHA:572798
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Pulmo...	OMIM:601186
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect	OMIM:612530
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology...	ORPHA:77293
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Hypoglycemia, Hypoglycemic seizures	ORPHA:480864
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve prolapse, Atrial septal...	OMIM:245600
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p...	OMIM:619482
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Sotos Syndrome	Glucose intolerance, Patent ductus arteriosus, Neonatal hypoglycemia	OMIM:117550
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Neonatal hypoglycemia	OMIM:619055
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Con...	OMIM:619488
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Neonatal hypoglycemia, Neutropenia	OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hypoglycemia	OMIM:619355
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Dilated cardio...	ORPHA:79404
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Sheehan Syndrome	Normochromic anemia, Hypoglycemia	ORPHA:91355
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Carnitine-Acylcarnitine Translocase Deficiency	Fasting hypoglycemia, Hypoketotic hypoglycemia	ORPHA:159
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased circula...	ORPHA:79078
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:606519
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Pulmonic stenosis	OMIM:619148
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia	ORPHA:565624
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Tetrasomy 9P	Absent gallbladder, Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Jaundice, Biliary a...	ORPHA:3310
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy	OMIM:212720
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:184705
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
Cornelia De Lange Syndrome 1	Ventricular septal defect, Pneumonia, Otitis media, Duplication of internal organs, Thrombocytopenia	OMIM:122470
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia	OMIM:616878
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia	OMIM:618329
Alexander Disease	Sudden cardiac death, Hypothyroidism, Respiratory insufficiency, Hyperhidrosis, Hypertension, Hyp...	ORPHA:58
Congenital Analbuminemia	Small for gestational age, Increased circulating antibody level, Obesity	ORPHA:86816
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia	ORPHA:813
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Fanconi Anemia, Complementation Group E	Microphthalmia, Abnormal heart morphology	OMIM:600901
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Abnormality of ...	ORPHA:2306
Acute Adrenal Insufficiency	Normocytic anemia, Hypoglycemia	ORPHA:95409
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Lymphedema-Distichiasis Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hypoglycemia	OMIM:210210
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis	ORPHA:1272
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia	ORPHA:228305
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent hypoglycemia, Hypoglycemia, Hepatocellular necrosis	OMIM:256810
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia	OMIM:617093
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Infectious encephalitis, Abnormal hemoglobin, Anemia	ORPHA:847
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Cysticercosis	Abnormal myocardium morphology, Iridocyclitis, Infectious encephalitis, Increased circulating ant...	ORPHA:1560
Fryns Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Tetralogy of Fallot	ORPHA:2059
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis	ORPHA:65286
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Microphthalmia, Congenital aphakia	ORPHA:137675
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Oculodentodigital Dysplasia	Hypoglycemia	ORPHA:2710
Holoprosencephaly	Abnormality of the spleen, Diabetes mellitus, Hypoglycemia	ORPHA:2162
Fanconi Anemia, Complementation Group A	Microphthalmia, Abnormal heart morphology	OMIM:227650
Isolated Complex I Deficiency	Diabetes mellitus, Hypoglycemia	ORPHA:2609
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Central hypoventilation, Decreased response to gr...	ORPHA:293987
Cohen Syndrome	Microphthalmia, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Duane-Radial Ray Syndrome	Atrial septal defect, Optic disc hypoplasia, Microphthalmia, Ventricular septal defect	OMIM:607323
Digeorge Syndrome	Acne, Ventricular septal defect, Impaired T cell function, Seborrheic dermatitis, Thrombocytopeni...	OMIM:188400
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Hepatosplenomegaly	OMIM:301066
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia	ORPHA:35173
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia	OMIM:609015
Addison Disease	Normocytic anemia, Thiamine-responsive megaloblastic anemia, Hypoglycemia, Type I diabetes mellitus	ORPHA:85138
Meckel Syndrome 14	Microphthalmia, Single ventricle	OMIM:619879
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia	OMIM:615751
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:464738
1Q21.1 Microdeletion Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:250989
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c...	OMIM:309801
Mosaic Trisomy 1	Microphthalmia, Ventricular septal defect	ORPHA:1692
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria	OMIM:227810
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Hypoglycemia	ORPHA:17
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Abnormal cardiac septum morphology, Ventricular septal de...	ORPHA:2092
Marshall-Smith Syndrome	Apnea, Ventricular septal defect, Dysplastic aortic valve, Recurrent upper respiratory tract infe...	OMIM:602535
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia	ORPHA:109
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspi...	ORPHA:397715
Orthostatic Hypotension 1	Neonatal hypoglycemia	OMIM:223360
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Mitochondrial Complex I Deficiency, Nuclear Type 1	Splenomegaly, Hypoglycemia	OMIM:252010
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia, Per...	ORPHA:508498
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:251014
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia	ORPHA:3008
Atelis Syndrome 2	Microphthalmia, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia	OMIM:610768
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia	OMIM:614501
Micro Syndrome	Microphthalmia	ORPHA:2510
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia	ORPHA:746
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia	ORPHA:157
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect	ORPHA:268249
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Anemia	OMIM:613658
Ayme-Gripp Syndrome	Pericarditis	OMIM:601088
Jacobsen Syndrome	Atrial septal defect, Microphthalmia, Macular hypoplasia, Ventricular septal defect	OMIM:147791
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Coffin-Siris Syndrome	Atrial septal defect, Ventricular septal defect, Recurrent upper respiratory tract infections, Ab...	ORPHA:1465
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Hypohidrosis	OMIM:612132
Deeah Syndrome	Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia	OMIM:619004
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Decreased sweating due to autonomic dysfunction, Aspiration ...	ORPHA:99027
Trisomy 18	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3380
Cushing Disease	Acne, Myocardial infarction, Leukocytosis, Recurrent cutaneous fungal infections, Hypertension, C...	ORPHA:96253
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca...	ORPHA:353281
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Fanconi Anemia, Complementation Group C	Microphthalmia, Ventricular septal defect	OMIM:227645
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Atrial septal defect, Microphthalmia, Truncus arteriosus	ORPHA:2538
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Congestive hear...	ORPHA:444077
Glutaryl-Coa Dehydrogenase Deficiency	Fasting hypoglycemia	ORPHA:25
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia	ORPHA:90791
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:2166
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Scleromyxedema	Paraproteinemia	ORPHA:167635
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal tubular epithelial necrosis, Weight loss, Increased circulating IgG leve...	ORPHA:91500
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Phthisis bulbi, Double outlet right ventri...	OMIM:300166
Frontorhiny	Microphthalmia	ORPHA:391474
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia	ORPHA:96182
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Multiple Endocrine Neoplasia, Type I	Hypoglycemia	OMIM:131100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Acro-Renal-Ocular Syndrome	Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Absce...	ORPHA:642
Fanconi Anemia, Complementation Group D2	Microphthalmia, Abnormal heart morphology	OMIM:227646
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Monosomy 9Q22.3	Microphthalmia, Cardiac fibroma	ORPHA:77301
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Pallister-Hall Syndrome	Microphthalmia, Ventricular septal defect	OMIM:146510
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia, Abnormal heart morphology	OMIM:247200
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Patent foramen ovale, Abnormal heart...	ORPHA:2745
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Beckwith-Wiedemann Syndrome	Splenomegaly, Polycythemia, Neonatal hypoglycemia, Hypoglycemia	ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ...	ORPHA:2556
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia	OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Microphthalmia, Subvalvular aortic stenosis	ORPHA:1052
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart morphology, ...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart morphology, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart morphology, ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart morphology, ...	ORPHA:93924
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Abnormal cardiac septum morphology, Abnormal aortic valve morphol...	ORPHA:84
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Splenomegaly, Abnormal aortic val...	ORPHA:567
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Bicuspid aortic valve, Ventricular septal defect, Breathing dysregulation...	ORPHA:438213
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Menkes Disease	Hypoglycemia	ORPHA:565
Perlman Syndrome	Hypoglycemia	OMIM:267000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos...	ORPHA:508
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Atrial septal defect, Microphthalmia, Aortic val...	OMIM:139210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Ca...	ORPHA:353277
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circ...	ORPHA:79318
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Atrial septal ...	ORPHA:3472
Cockayne Syndrome Type 3	Splenomegaly, Hepatomegaly, Microphthalmia, Cardiomyopathy	ORPHA:90324
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Hereditary Fructose Intolerance	Reactive hypoglycemia	ORPHA:469
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Patent foramen ovale	OMIM:613884
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Cousin Syndrome	Microphthalmia	OMIM:260660
Trichothiodystrophy	Cardiomyopathy, Bilateral microphthalmos, Ventricular septal defect	ORPHA:33364
Generalized Glucocorticoid Resistance Syndrome	Hypoglycemia	ORPHA:786
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly	ORPHA:14
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Myocardial infarction, Neoplasm of the thymus...	ORPHA:99889
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Microphthalmia, Patent foramen ovale, Right ventricular hypertrophy	OMIM:620186
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia	ORPHA:226307
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Bartsocas-Papas Syndrome 1	Microphthalmia, Patent foramen ovale	OMIM:263650
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return	OMIM:609945
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Cockayne Syndrome B	Splenomegaly, Hepatomegaly, Hypoplasia of the iris, Microphthalmia	OMIM:133540
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Microphthalmia, Tetralog...	OMIM:309500
Fryns Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:229850
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Fructose Intolerance, Hereditary	Hypoglycemia, Glycosuria	OMIM:229600
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Glycosuria	ORPHA:3337
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Abnormal heart morphology, Left ventricular hypertro...	OMIM:612289
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Charge Syndrome	Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi...	ORPHA:138
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia	OMIM:264090
Meckel Syndrome, Type 1	Microphthalmia, Splenomegaly, Abnormal cardiac septum morphology	OMIM:249000
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:168558
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia	ORPHA:289548
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Costello Syndrome	Hypoglycemia	OMIM:218040
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Charge Syndrome	Overriding aorta, Ventricular septal defect, Anophthalmia, Secundum atrial septal defect, Dysplas...	OMIM:214800
Holoprosencephaly 1	Microphthalmia, Single ventricle	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Doors Syndrome	Respiratory distress, Congenital hypothyroidism, Aspiration pneumonia, Thrombocytosis, Double out...	ORPHA:79500
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Cockayne Syndrome	Splenomegaly, Hepatomegaly, Microphthalmia	ORPHA:191
Kabuki Syndrome 1	Hemolytic anemia, Atrial septal defect, Ventricular septal defect, Autoimmune thrombocytopenia, C...	OMIM:147920
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Neonatal hypoglycemia	ORPHA:457359
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Neurooculorenal Syndrome	Recurrent hypoglycemia	OMIM:620305
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Neu-Laxova Syndrome 1	Microphthalmia, Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries	OMIM:256520
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Complete atrioventricular canal defect, Bilate...	ORPHA:508488
Aicardi Syndrome	Microphthalmia	OMIM:304050
Monosomy 9P	Microphthalmia	ORPHA:261112
Mowat-Wilson Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Mi...	OMIM:235730
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale	OMIM:619539
Roberts Syndrome	Microphthalmia	ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Hydrolethalus Syndrome 1	Microphthalmia, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Atrial septal defect, Mi...	ORPHA:857
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Pallister-Hall Syndrome	Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Ventricular septal defect	ORPHA:672
Holoprosencephaly 2	Microphthalmia, Single ventricle	OMIM:157170
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia	OMIM:201750
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Sotos Syndrome	Acute lymphoblastic leukemia, Patent ductus arteriosus, Neonatal hypoglycemia	ORPHA:821
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Neonatal hypoglycemia	ORPHA:90794
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart morphology, Pulmonic s...	ORPHA:261537
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Mowat-Wilson Syndrome	Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:261552
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:268300
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial...	OMIM:216340
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Chronic rhinitis	OMIM:615225
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1		OMIM:606579
Respiratory Papillomatosis, Juvenile Recurrent, Congenital		OMIM:618803

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 Nlrp1a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Nlrp1a.

No publications found that use IMPC mice or data for Nlrp1a.

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MGI Allele	Allele Type	Produced
Nlrp1a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Nlrp1a^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Nlrp1a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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: Nlrp1a MGI:2684861

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Nlrp1a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data