Gene: Abl1 MGI:87859

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

c-abl oncogene 1, non-receptor tyrosine kinase

Synonyms:

c-Abl, E430008G22Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Abl1 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 Abl1 (3 diseases)
Human diseases predicted to be associated with Abl1 (1069 diseases)

The table below shows human diseases associated to Abl1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Congenital Heart Defects And Skeletal Malformations Syndrome	High palate, Repeated pneumothoraces, Anal atresia, Intestinal malrotation, Failure to thrive, Cr...	OMIM:617602
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia	OMIM:608232

The table below shows human diseases predicted to be associated to Abl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ethanolaminosis	Cardiomegaly, Death in infancy	OMIM:227150
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 79	Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4...	OMIM:619238
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 18	Recurrent otitis media, Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-posit...	OMIM:615615
Immunodeficiency 104	Gastroesophageal reflux, T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous...	OMIM:608971
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath...	OMIM:601493
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Sepsis	OMIM:267500
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red...	OMIM:604765
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Recurren...	OMIM:619164
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ...	OMIM:615396
Immunodeficiency 24	Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate...	OMIM:615897
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Chronic oral candidiasis, Recurrent bacterial mening...	OMIM:300400
Immunodeficiency 48	Failure to thrive, Absence of CD8-positive T cells, Pneumonia, Hepatomegaly, Eczematoid dermatiti...	OMIM:269840
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C...	OMIM:615373
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level	OMIM:233650
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Fa...	OMIM:615617
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Death in infancy, Bronchiectasis, Coombs-positive he...	OMIM:617514
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr...	OMIM:604169
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death...	OMIM:614096
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos...	OMIM:613953
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal s...	ORPHA:424019
Carcinoma Of Esophagus	Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine mo...	ORPHA:70482
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent ear infections, T lymphocytopenia, Increased proportion of transitional B cells, Recurr...	OMIM:615513
Immunodeficiency 84	Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple...	OMIM:619437
Immunodeficiency 42	Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chronic oral candidiasis, BCGosi...	OMIM:616622
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia	OMIM:242870
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Failure to thriv...	OMIM:603554
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells...	OMIM:617241
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat...	OMIM:618806
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy...	OMIM:618987
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport...	OMIM:212050
Immunodeficiency 8 With Lymphoproliferation	Gastroesophageal reflux, Chronic oral candidiasis, Recurrent otitis media, Lymphopenia, Recurrent...	OMIM:615401
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Multicentric Reticulohistiocytosis	Cachexia, Arthritis, Histiocytosis	ORPHA:139436
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent EBV viremia, Decreased CD4:CD8 ratio, Severe varicella zoster infection, Recurrent bro...	OMIM:300853
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:617228
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Perianal...	OMIM:618108
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti...	OMIM:615518
Solitary Rectal Ulcer Syndrome	Anemia, Decreased body weight, Stercoral ulcer, Anal fissure, Rectal prolapse, Hematochezia	ORPHA:209964
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Weight loss, Abnormality of the gastrointestinal tract	ORPHA:52416
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent ...	ORPHA:277
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr...	OMIM:312863
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber...	OMIM:619424
Immunodeficiency 15A	Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti...	OMIM:618204
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr...	OMIM:619350
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce...	OMIM:613501
Immunodeficiency 75 With Lymphoproliferation	Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion...	OMIM:619126
Wolman Disease	Anemia, Hepatic failure, Cachexia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal ...	ORPHA:75233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to th...	OMIM:601457
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio...	OMIM:618052
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent viral infections, Recurrent ...	ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Pyoderma, Recurrent bronchopulmonary infections, Abnormally low T cell recepto...	OMIM:242700
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D...	OMIM:601494
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni...	ORPHA:444463
Immunodeficiency, Common Variable, 1	Conjunctivitis, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil anti...	OMIM:607594
Laryngotracheoesophageal Cleft Type 4	Respiratory insufficiency, Cachexia, Tracheoesophageal fistula, Abnormality of mesentery morpholo...	ORPHA:93941
Majeed Syndrome	Abnormal inflammatory response, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin,...	ORPHA:77297
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Cystic Fibrosis	Meconium ileus, Cirrhosis, Biliary cirrhosis, Bronchiectasis, Asthma, Recurrent bronchopulmonary ...	OMIM:219700
Blue Rubber Bleb Nevus	Abnormality of the liver, Intussusception, Volvulus, Intestinal bleeding, Iron deficiency anemia,...	OMIM:112200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Pneumonia	OMIM:247800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Generalize...	OMIM:618986
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Atrial Standstill	Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa...	ORPHA:1344
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu...	OMIM:618982
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell recep...	OMIM:602450
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast...	ORPHA:217390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:C...	OMIM:150550
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s...	OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Isolated Agammaglobulinemia	Anemia, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnormality of t...	ORPHA:229717
Idiopathic Bronchiectasis	Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys...	ORPHA:60033
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intestinal atresia, En...	OMIM:243150
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,...	OMIM:301082
Desmoplastic Small Round Cell Tumor	Anemia, Ovarian neoplasm, Weight loss, Ileus, Neoplasm of the pancreas, Cachexia, Abnormality of ...	ORPHA:83469
Immunodeficiency 95	Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i...	OMIM:619773
Thymic Aplasia	Hypothyroidism, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus infec...	ORPHA:83471
Immunodeficiency 40	Respiratory tract infection, Rectal fistula, Elevated circulating alanine aminotransferase concen...	OMIM:616433
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Chronic bronchitis, Bronchiectasis, Wheezing, Hepatocellular carcinoma, Chronic pulmon...	OMIM:613490
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Recurrent infections, Splenomegaly, Hepatomegaly	OMIM:606445
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Immunodeficiency 17	T lymphocytopenia, Abnormal B cell morphology, Death in infancy, Chronic oral candidiasis, Decrea...	OMIM:615607
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa...	OMIM:618534
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa...	OMIM:620135
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno...	ORPHA:439
Immunodeficiency 50	Neutropenia, Eczema, Recurrent respiratory infections, Lymphopenia	OMIM:300988
Reticular Dysgenesis	Leukopenia, Anemia, Weight loss, Aplasia/Hypoplasia of the thymus, Skin rash, Malabsorption, Abno...	ORPHA:33355
Idiopathic Achalasia	Bronchitis, Gastroesophageal reflux, Recurrent aspiration pneumonia, Weight loss, Cough, Dysphagi...	ORPHA:930
Mirage Syndrome	Leukopenia, Anemia, Decreased body weight, Recurrent urinary tract infections, Decreased testicul...	OMIM:617053
Cronkhite-Canada Syndrome	Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Intestinal polyposis...	ORPHA:2930
Immunodeficiency 11	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Asthma, Eczema, Recurrent sinopulmonary infections, Failure to thrive, L...	OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Neonatal sepsis, Lymphocytosis, Decreased proportion of CD3-positive T cells, ...	ORPHA:169154
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent circulating B cells, Recurrent pneumon...	OMIM:613500
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop...	OMIM:619846
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Immunodeficiency 27A	Anemia, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Increased...	OMIM:209950
Immunodeficiency 32B	Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infections, Neutrophilia, Failure to...	OMIM:226990
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga...	OMIM:619707
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, S...	OMIM:612541
Pulmonary Blastoma	Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough	ORPHA:64741
Pfapa Syndrome	Weight loss, Malabsorption, Arthritis, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infe...	ORPHA:42642
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Failure to t...	OMIM:618495
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Neonatal death, Death in infancy	OMIM:617184
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Reduced natural killer cell count, Erythroderma, T lymphocytopenia, Villous atrop...	OMIM:619510
Attrv30M Amyloidosis	Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy	ORPHA:85447
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear...	OMIM:614473
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp...	OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased proportion o...	ORPHA:276
Mu-Heavy Chain Disease	Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Abno...	ORPHA:37042
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec...	ORPHA:1572
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve...	OMIM:163800
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut...	OMIM:619824
Immunodeficiency 36 With Lymphoproliferation	Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,...	OMIM:616005
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter...	ORPHA:231154
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:70593
Congenital Gerbode Defect	Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa...	ORPHA:99095
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro...	OMIM:252011
Hepatoportal Sclerosis	Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu...	OMIM:619220
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,...	OMIM:616501
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou...	ORPHA:3092
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis, Recurrent ot...	OMIM:612692
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Weight loss, Malabsorption, Cachexia, Gastrointestinal dysmotility, Slender build, Intestinal pse...	OMIM:613662
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc...	OMIM:619167
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ...	ORPHA:911
Primary Myelofibrosis	Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytos...	ORPHA:824
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Severe varicella zoster infection, Hepatosplenomegaly, Lymphad...	OMIM:618261
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri...	ORPHA:85451
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Primary microcephaly	ORPHA:89844
Chronic Beryllium Disease	Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal propo...	ORPHA:133
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Recurrent enteroviral infections, Abnormal B c...	ORPHA:331206
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect	OMIM:619170
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,...	ORPHA:75249
Immunodeficiency 9	Failure to thrive, Recurrent infections, Hypoplasia of the thymus, BCGitis	OMIM:612782
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red...	OMIM:300257
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Lymphangiectasia, Intestinal	Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Stillbirth	OMIM:152800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Death in infancy, Hepatomegaly, Cardiomegaly, Death in childhood	OMIM:619064
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneu...	OMIM:614700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Persistent EBV viremia, Recurrent urinary tract infections, Generalized l...	OMIM:615559
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Peutz-Jeghers Syndrome	Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple gastric polyps, B...	OMIM:175200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, Severe infection, HbS hemoglobin, Reticulocytosis, Persistence of hemoglo...	ORPHA:251380
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Lymphocytosis, Pancytopenia, Au...	OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Failure to thrive, Recurrent infections, Hepatomegaly, Extramedullary hematop...	OMIM:615285
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Micro...	ORPHA:141152
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Hypoplasia of the thymus, Epicanthus, Jaundice, Intrahepatic biliary dysgenesis...	OMIM:214110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Erythroderma, Chronic oral candidiasis, Hepatitis, Lymphopenia, Hepatosplenomegaly, Recurrent pne...	ORPHA:169160
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Anemia, Cirrhosis, Weight loss, Small intestinal dysmotility, Abnormalit...	ORPHA:298
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopathy, Intestinal bleeding, Anal canal a...	ORPHA:424016
Familial Atrial Myxoma	Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my...	ORPHA:615
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Neonatal death, Cataract, Hepatosplenomegaly	OMIM:273680
Galactose Epimerase Deficiency	Weight loss, Jaundice, Cataract, Hepatomegaly, Splenomegaly	ORPHA:79238
Coronary Arterial Fistula	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte...	ORPHA:2041
Ataxia-Telangiectasia	Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Recurrent bronchitis, Acute lym...	OMIM:208900
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center, Recur...	ORPHA:79124
Pleural Mesothelioma	Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist...	ORPHA:50251
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Type I diabetes me...	OMIM:301078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Bronchiectasis, Arthritis, Eczema, Lymphopenia, Autoimmune t...	OMIM:616100
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Immunodeficiency 11B With Atopic Dermatitis	Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Pneumonia, Atopic...	OMIM:617638
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Hypoplasia of the thymus, Death in infancy, Pyloric stenosis, Pulmonary ...	OMIM:613177
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula...	OMIM:616249
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Rectal prolapse, Intussusception, Microangiopathic hemolytic anemia, Peri...	ORPHA:90038
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Cystic Fibrosis	Meconium ileus, Gastroesophageal reflux, Cirrhosis, Pneumothorax, Abnormality of the liver, Bronc...	ORPHA:586
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hypothyroidism, Decreased CD4:CD8 ratio, Severe varicella zoster infection, T lymphocytopenia, He...	OMIM:606367
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr...	OMIM:619281
Acute Myelomonocytic Leukemia	Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Pulmonary hypoplasia, Intestinal malrotation, Abnormal biliary tract...	ORPHA:3032
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp...	ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Chronic oral candidiasis, Skin rash, Rectovaginal fistula, ...	ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	OMIM:605258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Malabso...	OMIM:242860
Felty Syndrome	Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal...	ORPHA:47612
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Abnormal cardiac septum morphology	OMIM:601612
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Failure to thrive, Lympha...	OMIM:618048
Timothy Syndrome	Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o...	OMIM:601005
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A...	ORPHA:2198
Gracile Bone Dysplasia	Failure to thrive, Hypoplastic spleen, Aniridia, Asplenia	OMIM:602361
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Achalasia, B lymphocytopenia, Recurrent sinu...	OMIM:618969
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Eczema, Lymphopeni...	OMIM:618935
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ...	ORPHA:572
Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Splenomegaly	ORPHA:98293
Juvenile Polyposis Of Infancy	Anemia, High, narrow palate, Intussusception, Cachexia, Hematochezia, Intestinal bleeding, Refrac...	ORPHA:79076
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Cataract, Microcephaly, B lymphocytopenia	OMIM:619851
Whipple Disease	Respiratory insufficiency, Anemia, Malabsorption, Arthritis, Pleuritis, Cachexia, Uveitis, Perica...	ORPHA:3452
Microsporidiosis	Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o...	ORPHA:2552
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin...	OMIM:619802
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut...	OMIM:619375
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Malabsorption, Jaundice, Esophageal varix, Elevated hepatic transaminase,...	ORPHA:131
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit...	ORPHA:543
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I...	OMIM:613502
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Sp...	OMIM:278000
Mast Cell Sarcoma	Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Neonatal death, Flexion contracture, Myopathy	OMIM:618237
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen	OMIM:185070
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Chronic mucocutaneous candidiasis, F...	OMIM:102700
Pgm3-Cdg	T lymphocytopenia, Bronchiectasis, Eczema, Bone marrow hypocellularity, Eosinophilia, Decreased p...	ORPHA:443811
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased p...	OMIM:619652
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Short palpebral fissure, Epicanthus, Thin eyebrow, Abnormally low T cell receptor excision circle...	OMIM:618092
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Glossoptosis, Weight loss, Hepatitis, Skin rash, Arthritis...	ORPHA:47
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Cardiomegaly, Death in childhood, Splenomegaly	OMIM:269920
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:608106
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Esophageal varix, Portal hypertension, Splenomegaly	OMIM:617068
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Acitretin/Etretinate Embryopathy	Antecubital pterygium, Hypoplasia of the thymus, Microcephaly, Epicanthus	ORPHA:40366
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re...	OMIM:618652
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Elevated hepatic trans...	ORPHA:507
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia, Miscarriage	ORPHA:464370
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph...	OMIM:616028
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He...	OMIM:614034
Mevalonic Aciduria	Downslanted palpebral fissures, Cataract, Splenomegaly, Microcephaly	ORPHA:29
Ciliary Dyskinesia, Primary, 25	Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Po...	OMIM:615482
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse, Respiratory distress	OMIM:619793
Eosinophilic Gastroenteritis	Anemia, Weight loss, Allergic rhinitis, Asthma, Abnormality of the gastrointestinal tract, Malabs...	ORPHA:2070
Congenital Muscular Dystrophy Due To Lmna Mutation	Respiratory insufficiency, Cachexia, Death in infancy	ORPHA:157973
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ...	ORPHA:1164
Tularemia	Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t...	ORPHA:3392
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia	OMIM:614868
Pearson Syndrome	Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul...	ORPHA:699
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Respiratory distress, Weight loss	OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:619051
Ganglioneuroma	Colorectal polyposis, Multiple intestinal neurofibromatosis, Gastrointestinal hemorrhage, Central...	ORPHA:251992
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Abnormal pleura morphology, Lymphopenia, Eosinophilia	ORPHA:2582
Microcephalic Primordial Dwarfism, Toriello Type	Downslanted palpebral fissures, Recurrent respiratory infections, Cataract, Microcephaly, Neutrop...	ORPHA:2643
Follicular Lymphoma	Weight loss, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lympha...	ORPHA:545
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia, Death in childhood	OMIM:609528
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis	OMIM:616744
Immunodeficiency, Common Variable, 3	Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Decr...	OMIM:613493
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi...	OMIM:212140
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c...	ORPHA:331235
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections, Weight loss, Lymphadenopathy, Abnormal neu...	ORPHA:3226
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Xerostomia, Hamartomatous...	OMIM:175500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr...	OMIM:619705
Aspergillosis	Bronchiectasis, Pleural effusion, Abnormal esophagus morphology, Eosinophilia, Pneumonia, Abnorma...	ORPHA:1163
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Epicanthus, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory trac...	OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Acute lymphoblast...	ORPHA:486
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,...	ORPHA:99106
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia...	OMIM:235510
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia	OMIM:614702
Refsum Disease, Classic	Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:266500
Epidermodysplasia Verruciformis, Susceptibility To, 5	Cryptococcal meningitis, T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac...	ORPHA:1876
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Immunodeficiency 31C	Recurrent vulvovaginal candidiasis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Vill...	OMIM:614162
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect, Hepatomegaly, Death in infancy	OMIM:613730
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Exertional dyspnea, Weight loss, Chronic noninfectious lympha...	ORPHA:100083
Agammaglobulinemia 1, Autosomal Recessive	Conjunctivitis, Neutropenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusitis, Recurrent ot...	OMIM:601495
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Dubowitz Syndrome	Respiratory insufficiency, Anemia, High palate, Asthma, Malabsorption, Acute lymphoblastic leukem...	ORPHA:235
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Achalasia, Desquamative interstitial pneumonitis, Neutropenia in presence of anti-neutropil antib...	OMIM:615952
Omenn Syndrome	Anemia, Erythroderma, Thyroiditis, Failure to thrive, Lymphadenopathy, Leukocytosis, Eosinophilia...	ORPHA:39041
Tuberculosis	Cough, Weight loss, Abnormal lung morphology	ORPHA:3389
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir...	ORPHA:1329
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Bronchiectasis, Recurrent sinopulmonary infections, Pancytopenia, Ulcerative col...	OMIM:618394
Pseudomyxoma Peritonei	Respiratory insufficiency, Weight loss, Abnormality of the peritoneum, Inflammation of the large ...	ORPHA:26790
Cyclic Neutropenia	Respiratory tract infection, Recurrent skin infections, Enterocolitis, Perianal abscess, Periodon...	ORPHA:2686
Immunodeficiency 54	Respiratory insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess,...	OMIM:609981
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Atopic dermatitis, Weight loss, Abnormality of the gastrointestinal tract, Ast...	ORPHA:2902
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy	OMIM:619003
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren...	OMIM:608184
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Abnormal heart morphology, Neonatal death, Small thenar eminence	OMIM:613390
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopa...	ORPHA:1332
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Elevated h...	OMIM:619463
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio	OMIM:617006
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Weight loss, ...	ORPHA:54251
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,...	ORPHA:275
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252920
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, High palate, Hep...	ORPHA:33110
Autoinflammation, Immune Dysregulation, And Eosinophilia	Asthma, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Failure to thr...	OMIM:618999
Wiskott-Aldrich Syndrome	Conjunctivitis, Anemia, Sepsis, Hypoplasia of the thymus, Hemolytic anemia, Recurrent respiratory...	ORPHA:906
Syndromic Diarrhea	Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ...	ORPHA:84064
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Death in early adulthood, Dysphagia	ORPHA:85278
Immunodeficiency 15B	Reduced natural killer cell count, Chronic oral candidiasis, Death in infancy, Failure to thrive,...	OMIM:615592
Lysosomal Acid Lipase Deficiency	Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Decr...	ORPHA:275761
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Microcephaly, Abnormal natural killer cell morphology, Recu...	OMIM:615966
Renpenning Syndrome	Decreased testicular size, Cachexia, Anal atresia, Cleft palate, High, narrow palate	ORPHA:3242
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Pneumocystosis	Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Weight loss, Interstitia...	ORPHA:723
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right bundle branch block, Lower limb muscle weakness, Calf muscle hypertrophy, Abn...	ORPHA:268
Refractory Celiac Disease	Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi...	ORPHA:398063
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Bronchiectasis, Eosinophilic infiltration of the esophagus, As...	OMIM:243700
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ...	ORPHA:158048
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Reduced left ventricular ejection fraction, Death in infancy, Exercise-indu...	OMIM:201475
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly	ORPHA:75234
Avian Influenza	Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Infectious encephalitis, Productive cough, He...	ORPHA:454836
Aredyld Syndrome	Cachexia, Splenomegaly, Hepatomegaly	ORPHA:1133
Aggressive Systemic Mastocytosis	Anemia, Maculopapular exanthema, Decreased liver function, Weight loss, Malabsorption, Hypersplen...	ORPHA:98850
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Failure to thrive, Cataract, Microcephaly, Thrombocytopenia	ORPHA:67048
Mulibrey Nanism	Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly	OMIM:253250
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Riboflavin Transporter Deficiency	Respiratory insufficiency, Sleep apnea, Cachexia, Dysphagia	ORPHA:97229
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co...	ORPHA:99104
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, High palate, Bronchiectasis, Asthma, Cutaneous abscess, Lympho...	OMIM:619752
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Exertional dyspnea, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Dec...	ORPHA:42
Hemochromatosis, Type 1	Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C...	OMIM:235200
Immunodeficiency 43	Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine...	OMIM:241600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Recurrent sinopulmonary infections, Chronic pulmonary obstruc...	OMIM:616576
Moynahan Syndrome	Cachexia	ORPHA:2574
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch...	OMIM:612387
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Lymphoproliferative Syndrome, X-Linked, 1	Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, F...	OMIM:308240
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, E...	OMIM:269200
Classic Hodgkin Lymphoma	Respiratory insufficiency, Weight loss, Skin rash, Lymphadenopathy, Cough, Bone marrow hypocellul...	ORPHA:391
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage, Death in infancy	OMIM:618886
Melioidosis	Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Abnormal parotid gland...	ORPHA:31202
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells	OMIM:619693
Agammaglobulinemia, X-Linked	Conjunctivitis, Anemia, Enteroviral dermatomyositis syndrome, T lymphocytopenia, B lymphocytopeni...	OMIM:300755
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra...	ORPHA:324410
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec...	OMIM:233710
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Micronodular cirrhosis...	OMIM:301045
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Weight loss, Hepatitis, Lymphocytosis, Skin rash, Thyroiditis, Inte...	ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Retinitis Pigmentosa 89	Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ...	OMIM:618955
Wilson Disease	Anemia, Cirrhosis, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He...	ORPHA:905
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Skin rash, Arthr...	OMIM:301074
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Persistent EBV viremia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune...	OMIM:613011
Fusariosis	Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Pleural effusion, Myositis, Panniculi...	ORPHA:228119
Proteus-Like Syndrome	Abnormal pupil morphology, Downslanted palpebral fissures, Macrocephaly, Limbal dermoid, Polycyst...	ORPHA:2969
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni...	OMIM:612444
Staphylococcal Necrotizing Pneumonia	Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn...	ORPHA:36238
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Bronchioli...	OMIM:266265
Immunodeficiency 32A	Lymphadenitis, BCGitis, Granuloma, Lymphadenopathy, Recurrent infections	OMIM:614893
Amoebiasis Due To Entamoeba Histolytica	Anemia, Pleural empyema, Weight loss, Liver abscess, Elevated hepatic transaminase, Lung abscess,...	ORPHA:67
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem...	ORPHA:436252
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli...	ORPHA:1303
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ...	OMIM:614878
Mevalonic Aciduria	Downslanted palpebral fissures, Anemia, Hepatosplenomegaly, Fluctuating splenomegaly, Failure to ...	OMIM:610377
Hepatocellular Carcinoma	Anemia, Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Esophag...	ORPHA:88673
Radiation Proctitis	Abnormal gastrointestinal vascular morphology, Sepsis, Abnormal rectum morphology, Rectal abscess...	ORPHA:70475
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple...	ORPHA:1304
Cryptogenic Organizing Pneumonia	Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v...	ORPHA:1302
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Rec...	OMIM:233690
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
Anaplastic Thyroid Carcinoma	Weight loss, Nodular goiter, Respiratory distress, Tracheoesophageal fistula, Lymphadenopathy, Up...	ORPHA:142
Slc35A1-Cdg	Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Abnormal platelet granules, Gia...	ORPHA:238459
Immunodeficiency 49	Short palpebral fissure, T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopeni...	OMIM:617237
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ...	OMIM:603909
Aorta Coarctation	Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ...	ORPHA:1457
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Anteriorly placed anus, Throm...	OMIM:618624
Kaposi Sarcoma	Abnormality of the liver, Weight loss, Abnormality of the gastrointestinal tract, Skin rash, Gene...	ORPHA:33276
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Congenital Rubella Syndrome	Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mellitus, Cataract, Corneal opa...	ORPHA:290
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp...	ORPHA:79127
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Decreased CD4:CD8 ratio, Epicanthus, Pancytopenia, Leukemia	OMIM:614038
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Eso...	ORPHA:391487
Immunodeficiency 82 With Systemic Inflammation	T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple...	OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Skin rash, Arthritis, Elevated hepatic transaminase, Lymphopenia, Myositi...	OMIM:617591
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr...	ORPHA:555877
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope...	OMIM:620133
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the thymus, Absent tonsils, Abnormal...	OMIM:611926
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Acholic stools, Eleva...	ORPHA:65682
Gastrointestinal Stromal Tumor	Anemia, Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal...	OMIM:613807
Caroli Disease	Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir...	ORPHA:53035
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Developmental cataract, Lymphopenia, Failure to thrive, Cataract, Recur...	OMIM:616395
Autoimmune Polyendocrinopathy Type 3	Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Thymoma, Non-caseating epithelioid ...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,...	ORPHA:227990
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Gastroesophageal reflux, Cachexia, High palate	OMIM:618186
Hemochromatosis, Type 3	Anemia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Lymphopenia, Neutropenia	OMIM:604250
Lymphoid Interstitial Pneumonia	Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Multiple pulmonary cysts, Crackles, Hepatomeg...	ORPHA:79128
Systemic Lupus Erythematosus 17	Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm...	OMIM:301080
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Decreased response to growth hormone stimulation test, Enteroviral dermatomyositi...	OMIM:307200
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr...	OMIM:608233
Rhabdoid Tumor	Respiratory insufficiency, Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Thrombocy...	ORPHA:69077
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Whim Syndrome	Lymphadenitis, Respiratory tract infection, Bronchiectasis, Abnormality of neutrophil morphology,...	ORPHA:51636
Cystic Echinococcosis	Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t...	ORPHA:400
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia, Recurrent cand...	OMIM:610163
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Asplenia, Hypothyroidism, Chronic oral candidiasis, Keratoconjunctivitis, Ch...	OMIM:240300
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal size of pituitary gland, Sepsis, Decreased response to growth hormone stimulation test, ...	ORPHA:293978
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Elevated hepatic transaminase, Megarectum, Hepatomegaly, C...	OMIM:301056
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Pancytopenia, Failure to thrive, Cataract, Recurrent infections, Hepato...	ORPHA:251009
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Megaloblastic anemia, Eczema, Lymphopenia, Pancytopenia, Recurrent pneumonia, T...	OMIM:617780
Microlissencephaly	Pneumonia	ORPHA:1083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos...	ORPHA:308552
Nijmegen Breakage Syndrome	Anorectal anomaly, Hemolytic anemia, Recurrent respiratory infections, Cachexia, Recurrent sinopu...	ORPHA:647
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia, Restrictive vent...	OMIM:619767
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Increased stool alpha1-antitrypsin co...	ORPHA:90362
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol...	OMIM:618223
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, A...	ORPHA:411696
Microphthalmia, Syndromic 9	Blepharophimosis, Hypoplastic spleen, Multilobulated spleen, Cryptorchidism	OMIM:601186
Galactokinase Deficiency	Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Cataract, Nuc...	ORPHA:79237
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Jaundice, Inflammatory ...	ORPHA:39812
Bone Marrow Failure Syndrome 6	Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of...	OMIM:618849
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function	ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Macr...	OMIM:261740
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural effusion, Hepatomegaly, ...	ORPHA:781
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly	OMIM:208000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma...	ORPHA:183675
Bronchogenic Cyst	Abnormal pleura morphology, Pulmonary cyst, Abnormal stomach morphology, Abnormality of the perit...	ORPHA:2357
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P...	ORPHA:411703
Lethal Congenital Contracture Syndrome 10	Downslanted palpebral fissures, Hypoplasia of the thymus	OMIM:617022
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator...	ORPHA:3348
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Vici Syndrome	Leukopenia, T lymphocytopenia, Recurrent respiratory infections, Ocular albinism, Epicanthus, Lym...	OMIM:242840
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Lymphopenia	OMIM:616636
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy	OMIM:619259
Alpha-Mannosidosis	Type II diabetes mellitus, Macrocephaly, Cataract, Corneal opacity, Hepatomegaly, Recurrent respi...	ORPHA:61
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Recurrent sinusitis, Hepatic steatosis, Parathyroid hyp...	OMIM:188400
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc...	OMIM:306400
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Helicobacte...	ORPHA:2688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hypothyroidism, Anemia, Hepatic fibrosis, Exocrine pancreatic insufficiency, Blepharophimosis, Ly...	OMIM:620005
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Hypoxemia, Airway obstruction, Irregular septal thickening on pulmonary HRCT...	ORPHA:90060
Scedosporiosis	Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r...	ORPHA:449280
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Hepatosplenomegaly, Dysphagia, Respiratory failure, Respiratory i...	ORPHA:2590
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis	OMIM:615190
Treacher-Collins Syndrome	Downslanted palpebral fissures, Blepharospasm, Hypoplasia of the thymus, Absent eyelashes, Thyroi...	ORPHA:861
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Neutropenia, Eosinophilia	OMIM:257100
Acute Monoblastic/Monocytic Leukemia	Anemia, Exertional dyspnea, Weight loss, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic...	ORPHA:514
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Cardiomegaly, Hypertension	OMIM:613320
Ataxia-Telangiectasia	Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Elevated hepatic transaminase, Lymp...	ORPHA:100
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Panniculitis, Neutropenia, ...	OMIM:301081
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevated hepatic trans...	ORPHA:811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Abnormal pulmonary interstitial morpho...	ORPHA:2072
Sandhoff Disease	Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension,...	OMIM:268800
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val...	OMIM:231005
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy	OMIM:616801
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Gaucher Disease, Type Ii	Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Death in infancy, Apnea, Failure...	OMIM:230900
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Crohn's disease, Weight loss, Ulcerative colitis, Inflammation of ...	OMIM:266600
Shigellosis	Conjunctivitis, Intestinal perforation, Myocarditis, Hepatic failure, Failure to thrive in infanc...	ORPHA:810
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia...	ORPHA:760
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, High palate, Eczema, Cu...	OMIM:618282
Congenital Disorder Of Glycosylation, Type Ii	Hypothyroidism, Upslanted palpebral fissure, Decreased body weight, Epicanthus, Iris coloboma, Ca...	OMIM:607906
Immunodeficiency 56	Cirrhosis, Hepatic failure, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi...	OMIM:615207
Glycogen Storage Disease Iv	Hepatic failure, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Esophageal varix, Portal hyper...	OMIM:232500
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Jaundice, N...	ORPHA:1333
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal perforation, Colonic diverticula, Weight loss, Malabsorption, Cachexia, Gastrointestin...	OMIM:603041
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Dyspnea, Cough, Dysphagia, Respiratory failure, Respiratory failure requiri...	ORPHA:90117
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Cardiomyopathy	OMIM:618839
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