Not currently registered for phenotyping at IMPC

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

Gene Summary

c-abl oncogene 1, non-receptor tyrosine kinase
c-Abl,  E430008G22Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
Matching phenotypes Source
Death in infancy, Cardiomegaly OMIM:227150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 79
Recurrent upper respiratory tract infections, Recurrent otitis media, Decreased proportion of CD4... OMIM:619238
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp... OMIM:615615
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Lymphadenop... OMIM:608971
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Reticular Dysgenesis
Sepsis, Leukopenia, Hypoplasia of the thymus, Congenital agranulocytosis, Lymphopenia OMIM:267500
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Deat... OMIM:619164
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Immunodeficiency 19
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Lymphopenia OMIM:615617
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thri... OMIM:603554
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Recu... OMIM:300400
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Immunodeficiency 52
Death in infancy, Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma... OMIM:617514
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Anal canal squamous cell carcinoma... ORPHA:424019
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Coug... ORPHA:70482
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... OMIM:619371
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Gastrointestinal infarctions, Ne... ORPHA:2869
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... OMIM:617241
Immunodeficiency 40
Lymphopenia OMIM:616433
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Stillbirth OMIM:265880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive, Recurre... ORPHA:277
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Solitary Rectal Ulcer Syndrome
Rectal prolapse, Stercoral ulcer, Anemia, Anal fissure, Decreased body weight, Hematochezia ORPHA:209964
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Anemia, Lymphopeni... ORPHA:169079
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Immunodeficiency 17
Abnormal intestine morphology, Eczema, Failure to thrive, Recurrent otitis media, Decreased propo... OMIM:615607
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti... OMIM:601457
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastri... OMIM:618108
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media, Decreased proportion of CD4-positive he... OMIM:312863
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... OMIM:619424
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... OMIM:613953
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Neutropenia, Pneumonia, Bronchiectasis, Failure to thrive, Recurren... OMIM:601495
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Monocytosis, Failu... OMIM:612541
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Re... ORPHA:444463
Wolman Disease
Hepatomegaly, Cachexia, Esophageal varix, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrh... ORPHA:75233
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Respiratory insufficien... ORPHA:93941
Cystic Fibrosis
Hepatomegaly, Rectal prolapse, Reduced forced expiratory volume in one second, Bronchiectasis, Fa... OMIM:219700
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Abnormality of the liver, Intussusception, Int... OMIM:112200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Cachexia, Hepatomegaly, Abnormal inflammatory... ORPHA:77297
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... OMIM:618986
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Chronic otitis me... ORPHA:217390
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... OMIM:618982
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of th... ORPHA:229717
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... OMIM:300257
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... ORPHA:60033
Thymic Aplasia
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Opportunistic infect... ORPHA:83471
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of the lung, Lymp... ORPHA:83469
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomeg... OMIM:615285
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Failure to thrive, Recurren... OMIM:618534
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Failure to thrive, Recurrent bronchopulmonary infections, A... OMIM:242700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Immunodeficiency 50
Eczema, Recurrent respiratory infections, Neutropenia, Lymphopenia OMIM:300988
Reticular Dysgenesis
Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Anemia, Malabsorption, Skin ras... ORPHA:33355
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Failure to thrive, Recurrent viral infections, Recurrent infections... ORPHA:169154
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Mala... ORPHA:2930
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Weight ... OMIM:209950
Idiopathic Achalasia
Wheezing, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cough, Gastroesophageal reflux,... ORPHA:930
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Adrenal insufficiency, Leukopenia, Anemia, Recurrent urin... OMIM:617053
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Weight loss, Malabsorption, Arthritis, Sp... ORPHA:42642
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Common Variable Immunodeficiency
Restrictive ventilatory defect, Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneu... ORPHA:1572
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Oligoarthritis, Reduced natu... OMIM:619510
Caspase 8 Deficiency
Eczema, Pneumonia, Failure to thrive, Lymphadenopathy, Recurrent sinopulmonary infections, Spleno... OMIM:607271
3-Methylglutaconic Aciduria, Type Vii
Recurrent infections, Neutropenia, Cataract, Microcephaly OMIM:616271
Pulmonary Blastoma
Weight loss, Cough, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Malabsorption OMIM:613662
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Anemia, Int... OMIM:174900
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ventricular h... OMIM:115197
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in ... ORPHA:37042
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Failure to thrive, Lymp... ORPHA:911
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre... OMIM:600802
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Recurrent infections, Failure to thrive OMIM:615387
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Lymphadenopathy, Recurrent infections, Reduced natural killer ... OMIM:618261
Lymphangiectasia, Intestinal
Stillbirth, Malabsorption, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Hepatoportal Sclerosis
Esophageal varix, Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia ... ORPHA:64743
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Hepatomegaly, Abnormal B cell count, Lymphadenitis, Failure to th... ORPHA:331206
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Pancytopenia, Recurr... OMIM:614700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Atrial fibrillation,... ORPHA:75249
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Abnormal respiratory syst... ORPHA:133
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Microglossia, Upper airway obstruction, Respiratory distress, Dyspnea,... ORPHA:141152
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Failure to thrive, Upslanted palpebral fissure, Hypoplasia of the thymus, Brushfiel... OMIM:214110
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Primary microcephaly ORPHA:89844
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Dysphagia, Gastrointestinal dysmotility, Weight loss, Anemia, Cirrhosis, Macrovesicular... ORPHA:298
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract, Neonatal death OMIM:273680
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Postnatal macrocephaly, Recurrent infections, Splenomegaly, Lymphopenia, B... OMIM:605309
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune ... OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Failure to thrive secondary to recurrent infections, Chronic oral candid... ORPHA:169160
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in infancy, Pulmonary arterial hypertension, Cardiomegaly, Death in childhood OMIM:619064
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Arthritis, Recurr... OMIM:616100
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ov... OMIM:175200
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Immunodeficiency 31C
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... OMIM:614162
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Failure to thrive, Recurrent fun... OMIM:102700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... ORPHA:79124
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Ac... ORPHA:90038
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Jaundice ORPHA:79238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Severe varicella zoster infect... OMIM:606367
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Lymphadenopathy, Weight loss, Co... ORPHA:50251
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Failure to thrive, Macroglossia, Malabs... OMIM:242860
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... ORPHA:572
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Dyspnea, Thrombocytopenia, Eosinophilia ORPHA:517
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... OMIM:212140
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Lymphadenopathy, Neoplasm of the l... ORPHA:424016
Felty Syndrome
Sinusitis, Neutropenia, Lymphadenopathy, Chronic otitis media, Pleuritis, Splenomegaly, Recurrent... ORPHA:47612
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... ORPHA:79076
Recurrent bronchitis, Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Decreased ... OMIM:208900
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... ORPHA:860
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomega... OMIM:618935
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonary arterial hypertension, Splenomegaly, Pulmonic stenosis, ... OMIM:616028
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, ... ORPHA:3032
Immunodeficiency 70
B lymphocytopenia, Celiac disease, Achalasia, Furuncle, Decreased proportion of CD4-positive help... OMIM:618969
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Weight loss, Cough, Splenomegaly, Dyspnea ORPHA:98293
Brain abscess, Cholangitis, Sinusitis, Myocarditis, Hepatitis, Bronchitis, Infectious encephaliti... ORPHA:2552
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... ORPHA:2198
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, Pericarditis, Respiratory insuf... ORPHA:3452
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorp... ORPHA:131
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Lysosomal Acid Lipase Deficiency
Death in infancy, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosp... OMIM:278000
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia, Failure to thrive OMIM:602361
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Chronic otitis ... ORPHA:47
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... OMIM:618652
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Death in childhood OMIM:269920
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... ORPHA:1677
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension OMIM:617068
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Epicanthus, Microcephaly, Antecubital pterygium ORPHA:40366
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Sepsis, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy... OMIM:614034
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Microcephaly, Splenomegaly ORPHA:29
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Severe varicella zoster infection, Recurrent herpes, Neutropenia in pr... ORPHA:331235
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Rhinitis, Weight loss, ... ORPHA:507
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Death in infancy, Respiratory insufficiency ORPHA:157973
Colorectal polyposis, Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal re... ORPHA:251992
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... ORPHA:1164
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Weight loss, Anemia, Malabsorption... ORPHA:2070
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... ORPHA:3392
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Splenomegaly, Diabetes mellitus, Pancytopenia, Corneal stroma... ORPHA:699
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Eosinophilia, Lymphopenia, Abnormal pleura morphology ORPHA:2582
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Death in childhood OMIM:609528
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Cataract OMIM:204200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Downslanted palpebral fissures, Cataract, Recurrent respiratory infections, Microcep... ORPHA:2643
Sinusitis, Neutropenia, Hepatitis, Pleuritis, Eosinophilia, Chronic pulmonary obstruction, Infect... ORPHA:1163
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Abnormality of the peritoneum, Splenom... ORPHA:545
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Failu... OMIM:615767
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Apnea, Anemia, Spleno... OMIM:230900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Recurrent upper ... OMIM:602450
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia OMIM:618948
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Weight loss, B... ORPHA:3226
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Neutropenia, Pne... ORPHA:486
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Recurrent ... OMIM:613493
Epidermodysplasia Verruciformis, Susceptibility To, 5
Cryptococcal meningitis, Persistent human papillomavirus infection, T lymphocytopenia, Lymphopenia OMIM:618309
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glossitis, Hamartomatous... OMIM:175500
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... OMIM:261740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Thyroid lymphangiectasia, Intestinal lymphangiectasia, Narrow palate, Erysipelas... OMIM:235510
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Lymphadenopathy, Abnormal... ORPHA:39041
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Splenomegaly, Crohn's disease, Decreased baso... OMIM:618394
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Eczema, Desquamative interstitial pneumonitis, Celiac disease, Neu... OMIM:615952
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Fulminant hepatitis, Splenom... OMIM:308240
Weight loss, Cough, Abnormal lung morphology ORPHA:3389
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Bronchiectasis, Osteomyelitis, Autoimmune thro... OMIM:608184
Cyclic Neutropenia
Sinusitis, Enterocolitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Respirat... ORPHA:2686
Medullary Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Lymphadenopathy, Weight loss, Nodular goiter, Abnormal liver par... ORPHA:1332
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Failure to thrive, Recurrent ... ORPHA:275
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Lymphoproliferative Syndrome 2
Hepatomegaly, Sepsis, Severe varicella zoster infection, Lymphadenopathy, Recurrent infections, E... OMIM:615122
Autosomal Agammaglobulinemia
Sinusitis, High palate, Neutropenia, Bronchiectasis, Failure to thrive, Chronic otitis media, Hep... ORPHA:33110
Laryngeal Neuroendocrine Tumor
Weight loss, Exertional dyspnea, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia... ORPHA:100083
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph... ORPHA:54251
Pseudomyxoma Peritonei
Inflammation of the large intestine, Respiratory insufficiency, Lymphadenopathy, Weight loss, Abn... ORPHA:26790
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Ly... OMIM:613179
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Downslanted palpebral fissures, Cataract, Recurrent respiratory infections, Microcep... OMIM:251190
Dubowitz Syndrome
Acute lymphoblastic leukemia, Hypoparathyroidism, Rectal prolapse, High palate, Eczema, Respirato... ORPHA:235
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Atopic dermatitis, Crackles, Weight loss, Hypersensitivity pne... ORPHA:2902
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Epistaxis, Nodular regenerative hyperpl... OMIM:619463
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Small for gestati... ORPHA:84064
Christianson Syndrome
Death in early adulthood, Cachexia, Gastroesophageal reflux, Dysphagia ORPHA:85278
Immunodeficiency 54
Hepatomegaly, Respiratory insufficiency, Failure to thrive, Lymphadenopathy, Splenomegaly, Reduce... OMIM:609981
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia... OMIM:618999
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly, Sev... ORPHA:158048
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Chronic oral candidi... ORPHA:723
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... ORPHA:31202
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Esophageal varix, Failure to thrive... ORPHA:275761
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... OMIM:269200
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Splenomegaly, Lymphopenia, Recurrent respiratory infe... OMIM:616005
Wiskott-Aldrich Syndrome
Sepsis, Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platele... ORPHA:906
Renpenning Syndrome
High, narrow palate, Cachexia, Cleft palate, Anal atresia, Decreased testicular size ORPHA:3242
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Inflammatory abnormality of the skin, Normocytic anemia, Villous at... ORPHA:398063
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforation, Malab... OMIM:603041
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Reduced ejection fraction, Cardiomeg... OMIM:201475
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural k... ORPHA:2442
Riboflavin Transporter Deficiency
Cachexia, Dysphagia, Sleep apnea, Respiratory insufficiency ORPHA:97229
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Iris hypopigmentation, Cataract, Thrombocytopenia, Microcephaly ORPHA:67048
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Weight loss, Anemia, Mala... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Recurrent infections, Hepatic steatosis, Decreased proporti... OMIM:301045
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failur... OMIM:235200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Recurrent... ORPHA:293978
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Recurrent skin... OMIM:616576
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure, Myocardial fibrosis OMIM:253250
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Recurrent bronchitis, Recu... OMIM:240500
Immunodeficiency 20
Wheezing, Recurrent viral upper respiratory tract infections, Recurrent otitis media, Reduced nat... OMIM:615707
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:1133
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Mediastinal lymphadenopathy, Bronchiectasis, Pneumothorax, Pulmonary art... OMIM:612387
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Moynahan Syndrome
Cachexia ORPHA:2574
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, High palate, Bronchiectasis, Recurrent otitis media, Chronic mucocutan... OMIM:618282
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Arrhythmia OMIM:255120
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233710
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Death in infancy, Cardiomegaly OMIM:618886
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, Hepatic steatosis, Exertional dys... ORPHA:42
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Classic Hodgkin Lymphoma
Hepatomegaly, Respiratory insufficiency, Lymphadenopathy, Weight loss, Bone marrow hypocellularit... ORPHA:391
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, ... ORPHA:36238
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha... ORPHA:139402
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Pneumonia OMIM:614069
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Constrictive pericarditis, Lung abscess, Gastrointestinal dysmotility, Weight loss,... ORPHA:67
Brain abscess, Sinusitis, Neutropenia, Fasciitis, Maculopapular exanthema, Lung abscess, Hypersen... ORPHA:228119
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... ORPHA:238459
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Retinitis Pigmentosa 89
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... OMIM:618955
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Autoimmune... OMIM:613011
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Polycystic ovaries, Downslanted palpebral fissures, Splenomeg... ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Radiation Proctitis
Sepsis, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morp... ORPHA:70475
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Absent eyebrow, Recurrent abscess format... ORPHA:436252
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233690
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Nuclear cataract, Failure to thrive in infancy, Normocyti... OMIM:610377
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Pulmonary hypoplasia, Tracheomalacia, Pulmonary artery stenosi... OMIM:613177
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Ty... ORPHA:290
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... OMIM:240300
Caroli Disease
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Esophageal varix, ... ORPHA:53035
Kaposi Sarcoma
Abnormality of the spleen, Weight loss, Abnormality of the liver, Generalized lymphadenopathy, Sk... ORPHA:33276
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Esophageal varix, Hemobilia, Polycythemia, Weight loss, Hepatic nec... ORPHA:88673
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, C... ORPHA:1302
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Stridor, Goiter, Lymphadenopathy, Weight loss, Nodular goiter, C... ORPHA:142
Immunodeficiency 22
Failure to thrive, Recurrent respiratory infections, Panniculitis, Decreased proportion of CD4-po... OMIM:615758
Hemochromatosis, Type 3
Neutropenia, Anemia, Arthritis, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Lymphadenopathy, Panniculitis, Anemia, Arth... OMIM:617591
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Lymphopenia, Thrombocytopenia, Decreased response to g... OMIM:618624
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Hepatomegaly, Neutropenia, Ocular albinism, Upslanted palpebral f... OMIM:608233
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm of the rectum, Neopla... ORPHA:44890
Whim Syndrome
Sinusitis, Neutropenia, Abnormality of the small intestine, Pneumonia, Bronchiectasis, Lymphadeni... ORPHA:51636
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoderma, Absent ... OMIM:307200
Avian Influenza
Productive cough, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, Pneumotho... ORPHA:454836
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphadenopathy, Failure to thrive, Recurrent infections, Lymphoc... OMIM:617718
Lymphoid Interstitial Pneumonia
Wheezing, Eczema, Crackles, Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial th... ORPHA:79128
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Eosinophilia, T lymphocytope... OMIM:610163
Tetrasomy 12P
Cachexia, Abnormal soft palate morphology, Anal atresia ORPHA:884
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Rhabdoid Tumor
Respiratory insufficiency, Lymphadenopathy, Weight loss, Anemia, Neoplasm of the liver, Thrombocy... ORPHA:69077
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 14
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Microcephaly, Jaundice OMIM:608885
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Weight loss, ... ORPHA:400
3-Methylglutaconic Aciduria, Type Viii
Secondary microcephaly, Neutropenia, Cataract OMIM:617248
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Small for gestational age, Failure to thrive, Hepatosplenomegaly,... ORPHA:79237
Microphthalmia, Syndromic 9
Cryptorchidism, Blepharophimosis, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Nijmegen Breakage Syndrome
Cachexia, Cleft palate, Acute leukemia, Recurrent sinopulmonary infections, Anal atresia, Anorect... ORPHA:647
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Pulmonary hypoplasia, Neonatal death, Hepatic c... OMIM:263200
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, High palate, Gastroesophageal reflux, Respiratory insufficiency OMIM:618186
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem... ORPHA:781
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Failure to thrive, Recurrent infections, Cataract, Type I diabetes mellitus, Pancyt... ORPHA:251009
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Recurrent respiratory infections, Bronchitis, Liver abscess, Allergic rhinitis, Celi... ORPHA:183675
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating as... ORPHA:90003
Pneumonia ORPHA:1083
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Failure to thrive, Lymphadenopathy, ... ORPHA:39812
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia OMIM:610965
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepa... ORPHA:227990
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Megarectum, Small for gestational age, Leukopenia, Elevated hepatic transaminase, T... OMIM:301056
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Bronchitis,... OMIM:619381
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Car... ORPHA:308552
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmune hypoparathyroidism, Leukopenia, Aplasia... ORPHA:227982
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Cholesterol Pneumonia
Tachypnea, Death in infancy, Cough, Pneumonia OMIM:215030
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndr... OMIM:232300
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Dysphagia, Allergic rhinitis, Failure to thrive, Esophage... ORPHA:411696
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin concentration, Functiona... ORPHA:90362
Bronchogenic Cyst
Dysphagia, Pneumonia, Bronchogenic cyst, Abnormality of the peritoneum, Abnormal stomach morpholo... ORPHA:2357
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Abnormality of the tonsils, Decreased proportion of CD4-positive helper T cells, ... OMIM:611926
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis OMIM:615415
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Macrocephaly, Corneal opacity, Cataract, R... ORPHA:61
Sinusitis, Arthralgia/arthritis, Abnormal jejunum morphology, Bronchial breath sound, Pericarditi... ORPHA:449280
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... OMIM:615207
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Sinusitis, Cleft palate, Br... OMIM:251260
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Abnormal intestine morphology, Hepatomegaly, Pneumonia, Iron deficiency anemia, M... OMIM:226300
Pseudo-Torch Syndrome 1
Hepatomegaly, Opacification of the corneal stroma, Failure to thrive, Splenomegaly, Cataract, Thr... OMIM:251290
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... ORPHA:760
Treacher-Collins Syndrome
Eyelid coloboma, Thyroid hypoplasia, Failure to thrive, Hypoplasia of the thymus, Downslanted pal... ORPHA:861
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Bone ... ORPHA:811
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Lymphadenopathy, Pneumothorax, Weight lo... ORPHA:411703
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Myocarditis, Leukocytosis, Failure to thrive in infancy, Splenic abscess, Microangiopathic hemoly... ORPHA:810
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Irregular septal thickening on pulmonary HRCT, Weight loss, Anemia, Coug... ORPHA:90060
Failure to thrive, Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasi... ORPHA:100
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Cachexia, Bacterial endocarditis, Hepatic fibrosis, Esophageal varix, ... ORPHA:2072
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Legionnaires Disease
Myocarditis, Pericarditis, Respiratory insufficiency, Infectious encephalitis, Endocarditis, Lymp... ORPHA:549
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Exertional dyspnea, Lymphocytosis, Acute m... ORPHA:514
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Peritoneal abscess, Lymphadenopathy, Weight loss, Pancreatic adeno... ORPHA:1333
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Bone marrow hypocellularity, Leukopenia OMIM:615190
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Abnormal intestine morphology, Eczema, V... ORPHA:391487
Cirrhosis, Familial
Pulmonary arterial hypertension, Micronodular cirrhosis, Esophageal varix, Jaundice OMIM:215600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia ORPHA:1116
Bloom Syndrome
Acute lymphoblastic leukemia, Uveitis, Premature ovarian insufficiency, Respiratory failure, Bron... ORPHA:125
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Recurrent lower ... ORPHA:508542
Glycogen Storage Disease Iv
Esophageal varix, Failure to thrive, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hyper... OMIM:232500
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy OMIM:618839
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... ORPHA:480520
Hepatomegaly, Megarectum, Rectal prolapse, Failure to thrive, Enlarged ovaries, Decreased body we... ORPHA:508
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Macroglossia, Orthostatic hypotension, Cardiomegaly, Hepat... OMIM:268800
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, T lymphocytopenia, Recurrent vira... ORPHA:2959
Eosinophilic Fasciitis
Myositis, Weight loss, Fasciitis, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Good Syndrome
Sinusitis, Dysphagia, Mediastinal lymphadenopathy, Bronchiectasis, Anemia, Cough, Dyspnea, Recurr... ORPHA:169105
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... OMIM:266600
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... OMIM:619377
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Chroni... OMIM:615294
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Whim Syndrome 1
Recurrent upper respiratory tract infections, Neutropenia, Bronchiectasis OMIM:193670
Bronchial Neuroendocrine Tumor
Wheezing, Hepatomegaly, Pneumonia, Weight loss, Chronic noninfectious lymphadenopathy, Abnormal p... ORPHA:97287
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:618835
Eec Syndrome
Corneal erosion, Hypoplasia of the thymus, Keratitis, Thick eyebrow, Anterior hypopituitarism, Sp... ORPHA:1896
Immunodeficiency 23
Eczema, High palate, Neutropenia, Allergic rhinitis, Bronchiectasis, Failure to thrive, Abscess, ... OMIM:615816
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... ORPHA:465508
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Failure to thrive, Tachypnea, Paratracheal lymphad... OMIM:615934
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia ORPHA:97244
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Congenital Tufting Enteropathy
Villous atrophy, Failure to thrive, Weight loss, Malabsorption, Arthritis, Cholestatic liver dise... ORPHA:92050
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix OMIM:617341
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis media, Oral-pharyngeal dysphagi... ORPHA:99772
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Pneumonia, Lymphadenopathy, Chronic otitis media, Splenomegaly, Thrombocytopenia, H... ORPHA:169090
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... ORPHA:157794
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... ORPHA:2032
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Recurrent respiratory infections, Cachexia, Respiratory insufficiency ORPHA:702
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Recurrent respiratory in... OMIM:618523
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Death in infancy, Inflammation of the large intestine, Esophageal varix, Elevated h... OMIM:614576
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecif... OMIM:610921
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... OMIM:610910
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Failure to thrive, We... ORPHA:95427
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture OMIM:616897
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Telecanthus, Splenomegaly, Epicanthus, Downslanted pa... ORPHA:567