banner
Genes Phenotypes Help, News, Blog

Gene: Ctla4 MGI:88556

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytotoxic T-lymphocyte-associated protein 4
Synonyms:
Cd152,  Ctla-4,  Ly-56

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 Ctla4 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 predicted to be associated to Ctla4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, ... ORPHA:37748
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Sp... ORPHA:829
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent otitis media, Decreas... OMIM:615615
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Myocarditis, Splenomegaly, Jaundice, Diarrhea, Hepatiti... ORPHA:549
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, B... OMIM:607594
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato... OMIM:619126
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Hepatomegaly, Medias... ORPHA:809
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroid... ORPHA:139402
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Diarrhea, Dyspnea, Congestive heart failure, ... ORPHA:3386
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... ORPHA:563
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Diarrhea, Vasculitis, Lymphadenopat... ORPHA:83313
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Chronic diarrhea, Diarrhe... OMIM:617099
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... OMIM:618982
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Increased circulating IgG level, L... ORPHA:1304
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g... ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenopathy, Hyperhidrosis, ... ORPHA:83317
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Diarrhea, Cardiorespiratory arrest, Hypotens... ORPHA:188
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... ORPHA:3287
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Spastic Paraplegia 23, Autosomal Recessive
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... OMIM:270750
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Myocard... ORPHA:3452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Hypoxem... ORPHA:70578
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... OMIM:235550
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Stroke, Neutr... ORPHA:79312
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis... ORPHA:575
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abnormal sacroiliac joint morphology, Leu... ORPHA:32960
Kawasaki Disease
Pericarditis, Skin rash, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, ... ORPHA:2331
Congenital Atransferrinemia
Arthritis, Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... OMIM:618495
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effus... ORPHA:292
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Vomiting,... ORPHA:2552
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet vol... OMIM:617718
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Diarrhea, Recurrent pneumonia, He... ORPHA:169160
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis ORPHA:3437
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnorma... ORPHA:3392
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... ORPHA:810
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Rayn... OMIM:615688
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Vasculitis ORPHA:90026
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Listeriosis
Respiratory distress, Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Gran... ORPHA:533
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pneumonia,... OMIM:613179
Anti-Glomerular Basement Membrane Disease
Vasculitis, Respiratory insufficiency, Arthritis, Cough, Anemia ORPHA:375
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... OMIM:619802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... OMIM:618459
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Recurrent skin in... OMIM:620210
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ... ORPHA:3099
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Cervical lymphadenopa... ORPHA:50918
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Knee flexion co... OMIM:604416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Cough, Nephriti... ORPHA:73263
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Hyperhidrosis, Abnormal left ventricular function, Increased cir... ORPHA:99827
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... ORPHA:100024
Antisynthetase Syndrome
Joint dislocation, Recurrent respiratory infections, Myositis, Aortic regurgitation, Skin rash, T... ORPHA:81
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Pericardial effusion,... ORPHA:36412
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... OMIM:228000
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal mitral valve morphology, Abnorm... ORPHA:732
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Eczema, Chronic diarrhea, Oligoarthritis, Decrease... OMIM:619510
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Secretory diarrhea, Bloody diarrhea, Vomiting,... ORPHA:544482
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe... ORPHA:85414
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Microcytic anemia, Chronic diarrhea, Dilated cardiomyopa... OMIM:618805
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Familial Mediterranean Fever
Pericarditis, Intestinal obstruction, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, O... ORPHA:342
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Hyperhidros... ORPHA:319213
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recurrent upper re... OMIM:616005
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Cardiom... ORPHA:27
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobul... ORPHA:98813
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, C... OMIM:242700
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ... OMIM:615758
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Increased circulating interleukin 6 concentratio... ORPHA:178320
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Lymphade... OMIM:607115
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomy... OMIM:602390
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Hypertension, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Dyspnea, Vacuo... ORPHA:565612
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos... OMIM:615846
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... OMIM:603552
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe... ORPHA:319218
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... OMIM:243700
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Atherosclerosis, Dysphagia ORPHA:2724
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of... ORPHA:1830
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonar... ORPHA:206569
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Os... OMIM:606054
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Relapsing Polychondritis
Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Atelectasis, Hepatitis, Scle... ORPHA:728
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... OMIM:620321
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... ORPHA:90291
Squamous Cell Carcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99977
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Chronic d... OMIM:614699
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne... OMIM:152700
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... OMIM:607616
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Flexion contracture... OMIM:617591
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Colchicine Poisoning
Respiratory distress, Myocarditis, Leukocytosis, Diarrhea, Hypovolemia, Congestive heart failure,... ORPHA:31824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... OMIM:614069
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopen... OMIM:251000
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Melioidosis
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra... ORPHA:31202
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ... OMIM:613490
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Giant Cell Arteritis
Pericarditis, Aortic dissection, Epistaxis, Abnormal pleura morphology, Joint stiffness, Sudden c... ORPHA:397
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Pulmonary artery stenosis, ... ORPHA:3342
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Congestive heart failure, Prominent veins on trunk, Hypertension, Cir... ORPHA:79083
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Mitochondrial Complex I Deficiency, Nuclear Type 8
Stiff neck, Pancreatitis, Respiratory insufficiency, Dysphagia OMIM:618230
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... ORPHA:69126
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steato... ORPHA:2348
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia... ORPHA:221
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio... OMIM:606367
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis OMIM:614380
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... OMIM:615482
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... ORPHA:39041
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Panniculitis, Cystic a... OMIM:608068
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,... ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... OMIM:605258
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, ... OMIM:225750
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo... ORPHA:133
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Lymphopenia, Autoimmune he... ORPHA:331206
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... OMIM:617241
Buerger Disease
Vasculitis, Hyperhidrosis ORPHA:36258
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:301078
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry re... ORPHA:796
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Flexion contracture, Oligoar... ORPHA:85408
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Cach Syndrome
Flexion contracture, Hepatosplenomegaly, Optic neuritis, Vomiting, Dysphagia, Arthrogryposis mult... ORPHA:135
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancr... OMIM:619386
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... OMIM:300310
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Diarrh... OMIM:615387
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... ORPHA:77297
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... ORPHA:449427
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis,... OMIM:618523
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... OMIM:619752
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstructi... ORPHA:900
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis OMIM:620137
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Osteoporosis OMIM:601979
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Hemochromatosis, Type 3
Arthritis, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung mor... ORPHA:50251
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... OMIM:619281
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Splenomega... ORPHA:77259
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Pneumothorax,... OMIM:612387
Acatalasemia
Vitiligo ORPHA:926
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat... ORPHA:39812
Lelis Syndrome
Perioral hyperpigmentation, Vitiligo ORPHA:140936
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Vomiting, Intracta... OMIM:619381
Mahvash Disease
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia OMIM:619290
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... OMIM:260920
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Limitation of join... ORPHA:108
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary art... OMIM:615947
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Abnormality of the lymphatic system, Septic arthritis ORPHA:36237
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia OMIM:269600
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Coronary artery athe... OMIM:608600
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Hypothyroidis... ORPHA:83471
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Eng-Strom Syndrome
Arthritis, Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Eczema, Eosinophilia, Delayed proximal femoral epi... ORPHA:353298
Immunodeficiency 40
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Eosinophilic gr... OMIM:616433
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... OMIM:219700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Gout, Hy... OMIM:232220
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplas... ORPHA:171
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Idiopathic Trachyonychia
Vitiligo ORPHA:79153
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contracture, Limitation of jo... ORPHA:231
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar... ORPHA:1163
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Hypertension, Constipation, Vomiting... OMIM:121300
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Atrial septal defect, Osteomyelitis, Recurrent skin infections,... OMIM:618282
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Alopecia Areata 1
Autoimmunity OMIM:104000
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Respiratory insufficiency, Lymphadenopathy, Hy... ORPHA:391
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... ORPHA:2137
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Limitati... ORPHA:93476
Rigid Spine Syndrome
Hip contracture, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary function tes... ORPHA:97244
Marburg Hemorrhagic Fever
Nonproductive cough, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpholo... ORPHA:99826
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Limitation of joint mobility, K... ORPHA:2619
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... ORPHA:449395
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, T lymphocytopeni... OMIM:242860
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splen... OMIM:616050
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Chronic diarrhea, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular ... ORPHA:65682
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Sapho Syndrome
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... ORPHA:793
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Retrobulbar opt... ORPHA:90340
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... OMIM:612714
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Epistaxis, Dif... OMIM:614034
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections... ORPHA:486
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Situs... OMIM:613807
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Hyperhidrosis, Lymphadenopathy ORPHA:86893
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Lysinuric Protein Intolerance
Hepatomegaly, Recurrent fractures, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Osteoporosis... OMIM:222700
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Rheumatoid Arthritis
Joint stiffness, Vasculitis, Joint swelling, Polyarticular arthritis, Rheumatoid arthritis OMIM:180300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Adenocarcinoma Of The Esophagus
Cough, Gastroesophageal reflux, Lymphadenopathy ORPHA:99976
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin ra... ORPHA:540
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Diar... OMIM:249100
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Idiopathic Achalasia
Bronchitis, Wheezing, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspiration pneumonia ORPHA:930
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Re... OMIM:619644
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatomegaly, Ventricular arrhythmia, Abnormal atrioventricular cond... ORPHA:280365
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis OMIM:238600
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Sclerosing cholangitis, ... ORPHA:69663
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... OMIM:619750
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertension... OMIM:619487
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension, Premature coronary... OMIM:610947
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Situs inversus totalis, Bronchiectasis, Decrease... OMIM:612444
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical... OMIM:142680
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m... OMIM:257200
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... ORPHA:466677
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Increased circulating IgA lev... OMIM:615934
Roifman Syndrome
Hip contracture, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eczema, E... OMIM:616651
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis, Metopic synostosis ORPHA:477814
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Diarrhea, Wheezing, Lymphad... ORPHA:79456
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Vitiligo ORPHA:275
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Dyspnea, Diarrhea, Raynaud phenomenon, Peri... ORPHA:93552
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormality of neutrophils, Abnorm... ORPHA:36426
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Stiff-Person Syndrome
Vitiligo OMIM:184850
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Fanconi Anemia, Complementation Group P
Cafe-au-lait spot, Vitiligo OMIM:613951
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Microlissencephaly
Pneumonia ORPHA:1083
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar... OMIM:616414
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Acute colitis, Lung abscess, Abnormal pericardium morpholo... ORPHA:67
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... ORPHA:2848
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, T... OMIM:620233
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Flexion contracture, Abnormality on pulmonary function testing, Va... ORPHA:90289
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough,... OMIM:618254
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... ORPHA:244
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Diarrhea, Abnormality of... ORPHA:54251
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated... ORPHA:97287
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Immunodeficiency 77
Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous ab... OMIM:619223
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Ost... ORPHA:79301
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Retr... ORPHA:449563
Alpha-Mannosidosis
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Arthritis, Chronic otitis media, Sy... ORPHA:61
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... ORPHA:454836
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti... ORPHA:169090
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Cinca Syndrome
Joint dislocation, Hepatomegaly, Delayed closure of the anterior fontanelle, Abnormality of neutr... ORPHA:1451
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic anemia, ... ORPHA:398124
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 concentr... OMIM:301074
Yao Syndrome
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea,... OMIM:617321
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Sitosterolemia 1
Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Splenomegaly, Thromboc... OMIM:210250
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Joint stiffness, Congestive heart failure, O... ORPHA:1345
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Wilson Disease
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Joint swelling, Arthritis, Cir... ORPHA:905
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxi... ORPHA:420741
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa... OMIM:181000
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
African Trypanosomiasis
Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Lymphadenopathy, Hepatosple... ORPHA:3385
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Limitation of joint mobility, Osteoporosis, Mitral valve prolapse, Stroke,... OMIM:236200
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Recurrent fractures, Hepatomegaly ORPHA:417
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis ORPHA:567544
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephrit... ORPHA:93126
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Anemia, Malar rash, Serositi... ORPHA:231111
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... ORPHA:412
Immunodeficiency 31C
Osteopenia, Hepatomegaly, Lymphopenia, Osteomyelitis, Impaired lymphocyte transformation with phy... OMIM:614162
Familial Chylomicronemia Syndrome
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H... ORPHA:444490
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo ORPHA:480898
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... OMIM:601492
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Medial calcification of large arteries, T lymphocytopenia, Infectious encephalitis, P... ORPHA:391487
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis OMIM:614480
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Thrombocytopenia, Increased c... ORPHA:448237
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... OMIM:601495
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, ... OMIM:170100
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Abnormal ple... ORPHA:537
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... OMIM:614868
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lympho... OMIM:269920
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp... OMIM:607944
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Di... ORPHA:99745
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytos... ORPHA:90038
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis... ORPHA:79259
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ... ORPHA:470
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Diarrhea, Lymphadenopathy, Ascites, Anemia ORPHA:858
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o... ORPHA:169802
Galactosemia Iii
Splenomegaly, Jaundice, Vomiting, Hepatomegaly OMIM:230350
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level ORPHA:90159
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Dec... ORPHA:221139
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocytosis, Jaundice, Diarrhea, Lipid ... ORPHA:20
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Joint stiffness, Cardiomegaly... ORPHA:465508
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash, Pleuritis OMIM:609939
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... ORPHA:411703
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circu... OMIM:619774
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Increased bone mineral density, Hepatomegaly ORPHA:2204
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ecz... OMIM:615816
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Central hypothy... ORPHA:514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Vascular dilatation, Gout, Neutropenia OMIM:617056
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis ORPHA:79292
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphaden... OMIM:619183
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis, Hypertension, Increased circulating cortisol level, Primary hypercortis... OMIM:610475
Atelis Syndrome 1
Ventricular septal defect, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Th... OMIM:620184
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Osteomalacia, Recurrent fractures, Elevated circulating growth hor... ORPHA:562
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Lymphadenopath... ORPHA:26790
Sydenham Chorea
Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections ORPHA:306731
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... OMIM:615451
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting... ORPHA:31204
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Venous insufficiency, Abnormality of the spleen, Diarrhea... ORPHA:33276
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arterio... ORPHA:290
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormo... ORPHA:2796
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... ORPHA:93308
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Pigmentary retinopathy, Vitiligo OMIM:240300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporos... ORPHA:98849
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Overlap Myositis
Subluxation of the small joints of the hand, Raynaud phenomenon, Abnormal pulmonary interstitial ... ORPHA:206572
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ascites, Pancreatitis, Anemia ORPHA:370348
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Diarrhea, Permanent atrial fibrillation, Inflammatory... ORPHA:31825
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Recurrent pneumonia, Hepatomegaly OMIM:615637
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Bloom Syndrome
Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Decreased circulating IgG level, Decr... ORPHA:125
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Ankle clonus, Dysphagia, Hypothyroidism, Pancreatitis ORPHA:412057
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Dyspnea, Ab... OMIM:230800
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Ab... ORPHA:26791
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic lung disease, Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph ... ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic lung disease, Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph ... ORPHA:319487
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentra... ORPHA:99829
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Eosinophilopenia
Autoimmunity OMIM:131430
Rhabdoid Tumor
Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Hypertension, Internal... ORPHA:69077
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia ORPHA:75563
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, ... OMIM:612852
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... OMIM:614204
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Diarrhea, Recurrent upper respiratory ... OMIM:252920
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Dilation of Virchow-Robin spaces, Splenomegaly, Decreased circulating... OMIM:605309
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:300991
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Arteriosclerosis, Cirrhosis ORPHA:75234
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Osteoporosis, Te... OMIM:235200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, Chronic diarrhea, Dilated cardio... OMIM:615895
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Melorheostosis
Increased bone mineral density, Peripheral arteriovenous fistula, Joint stiffness, Arthritis, Ect... ORPHA:2485
Maple Syrup Urine Disease
Vomiting, Pancreatitis OMIM:248600
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Thromboc... OMIM:610333
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Alpha-Mannosidosis, Adult Form
Osteopenia, Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... ORPHA:2032
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Joint laxity, Osteoarthritis, Mitral valve prolapse, Joint hypermobility OMIM:130020
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H... OMIM:612541
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Jaundice, Xerostomia, Respiratory insufficie... ORPHA:779
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... OMIM:600969
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... OMIM:211600
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227990
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope... OMIM:617303
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... ORPHA:750
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo... ORPHA:90041
Glycogen Storage Disease Ic
Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Spider hemangioma, Recurr... OMIM:232240
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Stroke OMIM:602248
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating lutein... OMIM:617253
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent for... OMIM:601005
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Ch... OMIM:618268
Glycogen Storage Disease Ia
Hepatomegaly, Osteoporosis, Gout, Hypertension, Hepatocellular carcinoma, Intermittent diarrhea, ... OMIM:232200
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia ORPHA:93317
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... ORPHA:227982
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... ORPHA:85212
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
White-Sutton Syndrome
Vitiligo ORPHA:468678
Paget Disease Of Bone 6
Left ventricular hypertrophy, Osteoarthritis, Coronary artery atherosclerosis, Recurrent fractures OMIM:616833
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis OMIM:619423
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Joint ... OMIM:620080
Poikiloderma With Neutropenia
Joint laxity, Skin rash, Joint stiffness, Splenomegaly, Recurrent bronchopulmonary infections, Re... OMIM:604173
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pust... ORPHA:247353
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Vascular calcification OMIM:231000
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Wild Type Abeta2M Amyloidosis
Arthropathy, Gastrointestinal hemorrhage, Congestive heart failure, Arthritis, Dysphagia, Arrhythmia ORPHA:85446
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... ORPHA:158048
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:608644
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Epistaxis, Pancreatic cysts, Fractures of the long bon... ORPHA:464329
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Joint stiffness, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:252900
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Castleman Disease
Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Increased circulating interl... ORPHA:160
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Dyspnea, Diarrhea, Lymphadenopathy, Vomiting... ORPHA:79455
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thr... OMIM:610377
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, R... ORPHA:761
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... ORPHA:811
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome... ORPHA:3318
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... ORPHA:520
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Cardiomyopathy, Hypertension, Pleuritis ORPHA:767
Melas
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Diarrhea, Dil... ORPHA:550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615505
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... OMIM:617092
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Hy... ORPHA:71493
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Steatorrhea, Ascites, ... ORPHA:75233
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Lymphadenop... ORPHA:536
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Reduced forced... OMIM:613385
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Conjunctival telangiectasia, Sinusitis, Recurrent b... OMIM:208900
Late-Onset Isolated Acth Deficiency
Vitiligo ORPHA:199299
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Impaired T cell function, Splenomegaly, Pa... OMIM:614576
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:615481
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Atrial fibrillation, Craniosynostosis, Keratitis, Splenomegaly, Jaund... ORPHA:525731
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dyspnea ORPHA:90037
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Chronic diarrhea, Intracranial hemorrhage, Leukopenia... OMIM:617053
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Thromb... OMIM:603553
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... ORPHA:454831
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Double aortic arch, Cough, Splenomegaly, Anemia, Stridor, Gastroesophageal r... OMIM:230900
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Lar... ORPHA:49041
Mirizzi Syndrome
Tachycardia, Nausea, Jaundice, Gallbladder perforation, Cholesterol gallstones, Vomiting, Choleli... ORPHA:521219
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Spontaneous pneumothorax, Bicuspid aortic valve, Chronic pulmonary obstruct... OMIM:619825
Unclassified Myelodysplastic Syndrome
Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Citrullinemia Type Ii
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Hepatocellular carcinoma, Hepatic steatosis, ... ORPHA:247585
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Cardiomyopathy, Hype... ORPHA:79086
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis OMIM:613217
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... OMIM:214500
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Vomiting, Prolonged neonatal jaundice OMIM:618892
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit... OMIM:614017
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Leukopenia, Interstit... OMIM:127550
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615500
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Ventricular septal defect, Sclerotic cranial sutu... ORPHA:371428
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Acute Adrenal Insufficiency
Hyperpigmentation of the skin, Vitiligo ORPHA:95409
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Pericardial effusion, Hypothyroidism, Diarrhea, Flexion c... OMIM:212065
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... ORPHA:85410
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Recurrent aspiration pneumonia, Osteoporosis, Intermittent diarrhea OMIM:619971
Gaucher Disease
Osteopenia, Joint dislocation, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Incre... ORPHA:355
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Immunodeficiency 10
Autoimmune hemolytic anemia, Hypohidrosis, Thrombocytopenia, Lymphadenopathy OMIM:612783
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiecta... OMIM:615207
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Cough, Situs inversus ... OMIM:616037
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Raynaud phenome... ORPHA:324625
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Inspiratory st... OMIM:618618
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, ... ORPHA:93474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis, Chondrocalcinosis OMIM:145981
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal obstruction, Right ventricular failure, Chylous asci... ORPHA:90363
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Genu valgum, Hip oste... OMIM:132400
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Fetal ascites, Bone-marrow foam cell... OMIM:607625
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Increased circulating interleukin 6 concentration, Abnormal mucociliar... ORPHA:90051
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Congestive heart fa... OMIM:230500
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Recurrent respiratory infections, Mit... ORPHA:77261
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Syndromic Diarrhea
Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Joint stiffness, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:252930
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
H Syndrome
Psoriasiform dermatitis, Recurrent fractures, Microcytic anemia, Recurrent pharyngitis, Abnormal ... ORPHA:168569
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cirrhosis OMIM:613489
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue ORPHA:2762
Plague
Respiratory distress, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, In... ORPHA:707
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Neutropenia, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Dysphagia OMIM:618253
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Acute leukemia, Lymphadenop... ORPHA:99812
Lymphatic Filariasis
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteo... ORPHA:2035
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,... ORPHA:509
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Chronic calcifying pancreatitis, Vomiting, Abnormal ... ORPHA:103918
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Rickets, Di... OMIM:607765
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Congestive heart failure, Diar... ORPHA:85450
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Moderate Hemophilia A
Arthropathy, Hip contracture, Gastrointestinal hemorrhage, Epidural hemorrhage, Intraventricular ... ORPHA:169805
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:608647
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg... ORPHA:131
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo ORPHA:363958
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Sple... OMIM:259700
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytopenia, Decrease... ORPHA:293978
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Malt Lymphoma
Recurrent respiratory infections, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, Po... ORPHA:52417
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, ... OMIM:613327
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Reduced bone mineral density, Ascites ORPHA:834
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Flexion contracture, Xerostomia, O... ORPHA:220393
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic diarrhea, Cor pulmonale, Chronic mucocutane... OMIM:158310
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Ventricular septal hyper... OMIM:269700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Prolonged QT interval, ... ORPHA:26793
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis... ORPHA:85438
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Anemi... OMIM:603467
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... ORPHA:70588
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis OMIM:608594
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Delayed epiphyseal ossification, Flat acetabular roof, Atrial septal defect, Arrhythmia OMIM:250220
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, P... ORPHA:29207
Thymic Neuroendocrine Tumor
Osteopenia, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the... ORPHA:97289
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Hepatitis, Hematochezia... OMIM:613812
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Cardiomyopathy OMIM:619046
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Osteoarthritis, Dextrocardia ORPHA:66630
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Arthritis, Constipat... ORPHA:36397
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism, Osteomalacia, Chondrocalcinosis OMIM:600740
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Hennekam Syndrome
Lymphopenia, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Pericar... ORPHA:2136
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Recurrent upper respir... ORPHA:583
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Niemann-Pick Disease, Type C1
Hepatomegaly, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea... OMIM:257220
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Reduced bone mineral de... ORPHA:324
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Anhidrosis, Osteomyelitis, Recurrent fractures, Osteoarthritis, Diarrhea, Painless f... OMIM:608654
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Diarrhea, Po... OMIM:602347
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti... OMIM:620032
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, ... OMIM:612301
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Nodular Non-Suppurative Panniculitis
Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Hepatomegaly ORPHA:33577
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Splenomegaly, Hepa... ORPHA:584
Addison Disease
Hyperpigmentation of the skin, Vitiligo ORPHA:85138
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Jo... OMIM:607015
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopa... ORPHA:199241
Mucolipidosis Type Ii
Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectases of the cheeks, Promi... ORPHA:576
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Joint stiff... ORPHA:354
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... ORPHA:2614
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Left ventricular hypertrophy, Coronary artery ... OMIM:205400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Flexion contr... OMIM:256040
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Sympathetic Ophthalmia
Poliosis, Vitiligo ORPHA:79098
Familial Cold Urticaria
Arthritis, Conjunctivitis, Hyperhidrosis ORPHA:47045
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Joint stiffness, Splenomegaly, Flexion contract... OMIM:253200
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Peri... ORPHA:167
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Lyme Disease
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis ORPHA:91546
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells OMIM:604809
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Chops Syndrome
Gastroparesis, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmo... OMIM:616368
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Patent ductus arteriosus, Limitation of joint mob... OMIM:259100
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morpholo... ORPHA:217085
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... ORPHA:100080
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Raynaud phen... OMIM:613471
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... OMIM:130000
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... OMIM:153670
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... ORPHA:100075
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... ORPHA:29073
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morpholo... ORPHA:217093
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Diarrhea, Flexion contracture, Recur... OMIM:309900
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Visceral Myopathy 1
Gastroparesis, Diarrhea, Constipation, Vomiting, Dysphagia, Pancreatitis OMIM:155310
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, Neonatal alloimmune thrombocytop... ORPHA:51
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... OMIM:619656
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Abnormal heart morphology, Aspiration pneu... ORPHA:79264
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Abnormal lymphocyte proliferation, Secretory diarrhea, Atrial septal defect, ... OMIM:619573
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... OMIM:604571
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly... OMIM:619418
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertension, Hepatic steatosis, A... OMIM:151660
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Vomiti... ORPHA:2135
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ... ORPHA:567
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... OMIM:232300
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis, Mitral valve prolapse ORPHA:90653
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Diarrhea, Lymphadenopathy,... ORPHA:139411
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... ORPHA:100082
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Shortened QT interval, Primary hyperparathyroidism, Osteoporosis, Cons... ORPHA:99880
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, D... OMIM:253260
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Alkaptonuria
Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarc... ORPHA:56
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Prominent superficial veins, Carotid artery stenosis, Osteoarthritis, Generalized joi... OMIM:618000
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea OMIM:235555
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Shortened QT interval, Primary hyperparathyroidism, Osteoporosis, Cons... ORPHA:143
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Flexion contracture, Right ventricular dilatation, Restrictive ventilatory defect, Rig... OMIM:253700
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Central hypothyroidism, Iron deficiency anemia, Abnormality of the liver,... ORPHA:1667
Nephroblastoma
Neoplasm of the lung, Neoplasm of the liver, Hypertension, Lymphadenopathy ORPHA:654
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... ORPHA:85436
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Mucopolysaccharidosis Type 1
Joint dislocation, Recurrent respiratory infections, Sinusitis, Apnea, Abnormality of the tonsils... ORPHA:579
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Restrictive ventilat... ORPHA:98897
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Abn... ORPHA:667
Bardet-Biedl Syndrome 20
Atrial septal defect, Asthma, Pancreatitis OMIM:619471
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Abnormal liver parenchyma morphology, Lymph... ORPHA:1332
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy ORPHA:424019
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... OMIM:300842
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Lymphadenopathy, Stridor, Neo... ORPHA:142
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Vertical Talus, Congenital
Arthritis OMIM:192950
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Osteoporosis, Hypertension, Hypothyroidism ORPHA:77296
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia OMIM:613328
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ... OMIM:203500
Turner Syndrome Due To Structural X Chromosome Anomalies
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99413
Mosaic Monosomy X
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99228
Monosomy X
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99226
Turner Syndrome
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:881
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Flexion contract... OMIM:608149
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... ORPHA:70
Hemophilia A
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage OMIM:306700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Osteoporosis, Hepatocell... ORPHA:264580
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Delayed epiphyseal ossification, Premature osteoarthritis, Upper airway obstruction... ORPHA:93352
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Camptodactyly of finger, Abnorma... ORPHA:93473
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Increased circulating IgA level, Enlarged polycystic ovar... ORPHA:2298
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Dy... OMIM:230600
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Joint stiffness, S... ORPHA:2746
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Laron Syndrome
Osteoarthritis, Abnormality of the elbow, Hypohidrosis ORPHA:633
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Cardiogenic shock, Extrahepati... ORPHA:100078
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Osteomalacia, Splenomegaly, Osteoarthritis, A... OMIM:277900
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral dens... ORPHA:581
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Gout OMIM:618061
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur, Abnormal heart morphology ORPHA:1867
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Recurrent fractures, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea,... OMIM:239200
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Hepatomegaly, Chronic diarrhea, Peripheral arterial stenosis... ORPHA:580
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen... OMIM:610199
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Defective production of... OMIM:612132
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormal acetabulum morphology, Splenomegaly, Jaundice, Cholestasis, Hepatic bridgi... OMIM:618641
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenom... OMIM:259720
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Multiple joint dislocation, Gener... ORPHA:93360
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Fucosidosis
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion c... OMIM:230000
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Osteoarth... OMIM:251450
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... OMIM:301072
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Familial Tumoral Calcinosis
Hyperhidrosis, Splenomegaly, Skin rash, Hepatomegaly ORPHA:53715
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Aortic regurgitation, Pneumonia, Craniosynostosis, Joint ... ORPHA:309282
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Mitral valve prolapse, Arthritis, Joint hypermobility OMIM:108300
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia, Cherry red spot of the macula, Acetabul... ORPHA:79255
Congenital Tufting Enteropathy
Chronic diarrhea, Secretory diarrhea, Arthritis, Cholestatic liver disease, Vomiting, Steatorrhea... ORPHA:92050
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Recurrent respiratory infections, Pneumonia, Flexion contracture, Abnormal respirat... ORPHA:98905
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Ankle clonus, Aspiration pneumonia, Dysphagia ORPHA:52368
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hyperhidrosis, Hypertension, ... ORPHA:94093
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Coronary artery ath... ORPHA:77293
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia ORPHA:3035
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory fai... OMIM:617809
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Cardiomyopathy, Cholecystitis, Hepa... ORPHA:98908
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Diarrhea, Impaired T cell function, Hepatomegaly OMIM:201100
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Venous insufficiency, Splenomegaly, Bronchogenic cyst ORPHA:2969
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Gitelman Syndrome
Respiratory distress, Hyperhidrosis, Tubulointerstitial nephritis, Iron deficiency anemia, Promin... ORPHA:358
Tay-Sachs Disease
Hepatosplenomegaly, Ankle clonus, Aspiration pneumonia, Dysphagia, Limited knee extension, Cherry... ORPHA:845
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Hypertrophic ca... OMIM:276700
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Telangiectasia of the s... ORPHA:1775
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... ORPHA:284984
Cleft Velum
Recurrent otitis media, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Osteomalacia, Chondrocalcinosis ORPHA:405
Nk-Cell Enteropathy
Increased T cell count, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipation ORPHA:263665
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Cough, Urinary bladder inflammation, Diarrhea, Flexion contracture, Xero... ORPHA:99921
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Stiff neck, Pneumonia, Nausea, Pustule, Respiratory tract infecti... ORPHA:68
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Tubulointerstitial nephritis, Hypertension, Hypotension, Anemia OMIM:174000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Dysphagia ORPHA:397744
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Sp... OMIM:222470
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflu... OMIM:619488
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Recurrent respiratory infections, Gout ORPHA:411543
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Pate... OMIM:301068
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Lymphatic Malformation 6
Splenomegaly, Pleural effusion, Varicose veins, Gastroesophageal reflux, Chylothorax, Atrial sept... OMIM:616843
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... OMIM:192315
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... OMIM:613795
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Lymphadenopathy ORPHA:2221
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Dysphagia, Aspiration pneumonia, Increased susceptibility to fractures ORPHA:216866
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Abnor... ORPHA:314655
Digeorge Syndrome
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal ... OMIM:188400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Diarrhea... OMIM:606721
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis OMIM:109650
Dowling-Degos Disease
Arthritis, Acne inversa ORPHA:79145
Glycerol Kinase Deficiency
Chronic pancreatitis, Osteoporosis, Adrenal insufficiency, Pathologic fracture, Episodic vomiting OMIM:307030
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Conjunctivitis, P... OMIM:263700
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... ORPHA:95459
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Neuropathic arthropathy, Orthostatic hypotension due to aut... ORPHA:642
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hepatic fibrosis, Ga... ORPHA:64
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Splenomegaly, Abnorma... ORPHA:2072
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Splenomegaly, Hepatospleno... OMIM:613563
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Abnormal joint morphology, Osteoarthritis, Limita... ORPHA:1427
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Abnormality ... ORPHA:538
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti... ORPHA:64744
Radiation Proctitis
Intestinal obstruction, Abnormal vascular morphology, Diarrhea, Abnormal gastrointestinal vascula... ORPHA:70475
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Congenital hip dislocation, Splenomegaly, Hypertension, Gastroesophageal reflux, Rena... OMIM:617913
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Microcytic anemia ORPHA:2959
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ph... ORPHA:93111
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Flexion contracture, Constipation, Aspiration pneumonia ORPHA:35069
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, ... ORPHA:79404
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pa... OMIM:163950
Vici Syndrome
Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropenia, Decreased proportion of C... OMIM:242840
Cholera
Tachycardia, Diarrhea, Tachypnea, Hypovolemic shock, Vomiting, Stroke, Aspiration pneumonia, Hypo... ORPHA:173
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Hyperhidrosis, Decreased skull ossification, Dis... ORPHA:666
Aymé-Gripp Syndrome
Prominent metopic ridge, Pericarditis, Craniosynostosis, Pericardial effusion, Patent ductus arte... ORPHA:1272
Pancreatoblastoma
Jaundice, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancreatic calcification ORPHA:677
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... ORPHA:740
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Dysphagia, Hepatic hemangioma, Gastroesophageal reflux, Abnormal bone ossification,... ORPHA:73230
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Enlarged joints, Flexion contracture, Recurrent pneumonia OMIM:215150
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Hypophosphatemic rickets OMIM:307800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly, Ileus, Hypohidrosis, Constipation, Arthrogryposis multiplex congenita... ORPHA:163746
Congenital Erythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis,... ORPHA:79277
Loeys-Dietz Syndrome 5
Ventricular septal defect, Eosinophilic infiltration of the esophagus, Patent foramen ovale, Oste... OMIM:615582
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Periodontitis, Gastroesophageal reflux, Chronic otitis media, Osteomalacia, ... ORPHA:534
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Ankle flexion cont... ORPHA:2020
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Vasculitis in the skin, Malar rash, Cheilitis ORPHA:163525
Hepatoerythropoietic Porphyria
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Osteoporosis, Os... ORPHA:95159
Orotic Aciduria
Impaired T cell function OMIM:258900
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Joint stiffness, Splenomegaly, Arthritis, Chronic... ORPHA:93
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Elbow flexion contracture, Gastroesophageal reflux, Otitis ... OMIM:122470
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Delayed femoral head ossif... ORPHA:93307
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Recurrent respiratory infections, Osteoarthritis, Ivory epiphyses of the distal phala... OMIM:190350
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... ORPHA:95455
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinus... OMIM:615636
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Hypoperistalsis, Keratitis, Co... ORPHA:1018
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Myositis, Pericarditis, Juxtaductal coarctation of the aor... ORPHA:3310
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Classical Ehlers-Danlos Syndrome
Osteopenia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Vomiting, Gastroesoph... ORPHA:287
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, R... OMIM:300472
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation OMIM:612918
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Myocardial infarction, Neoplasm of the thymus... ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia OMIM:616430
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Cystic Fibrosis
Osteopenia, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduced forced expirator... ORPHA:586
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Aspiration pneumonia ORPHA:95232
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Pseudoaneurysm, Limitation of joint mobility, Ab... ORPHA:321
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Apnea, Bicuspid aortic valve, Gastroesophageal reflux, Aspiration pneumonia, Atrial s... ORPHA:438213
Marshall-Smith Syndrome
Atrial septal defect, Decreased hip abduction, Large sternal ossification centers, Recurrent frac... OMIM:602535
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Chronic constipation, Restrictive ventilator... OMIM:619482
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Camptodactyly OMIM:258865
Marfan Syndrome
Genu recurvatum, Bicuspid aortic valve, Flexion contracture, Emphysema, Tricuspid regurgitation, ... OMIM:154700
Marshall Syndrome
Osteoarthritis, Hypohidrosis, Genu valgum ORPHA:560
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Arterial dissection, Apnea, Elbow dislocation, Venous insufficiency, Osteoarth... ORPHA:285
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Decreased circulating cortisol level, Vomiting, Pneumonia ORPHA:90790
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Recurrent respiratory infections, Atrial septal defect, Bicuspid aortic valve, Pneu... ORPHA:353281
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Knee dislocation, Inlet v... OMIM:619534
Opitz Gbbb Syndrome
Atrial septal defect, Prominent metopic ridge, Enlarged ovaries, Ventricular septal defect, Crani... ORPHA:2745
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Premature osteoarthritis, ... OMIM:611962
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... ORPHA:444077
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Dilated cardiomyop... ORPHA:2388
Coffin-Siris Syndrome
Joint laxity, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Recurren... ORPHA:1465
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy ORPHA:424016
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Flexion contracture, Decreased sweating due to autonomic dys... ORPHA:99027
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglo... OMIM:617088
Ayme-Gripp Syndrome
Radioulnar synostosis, Delayed cranial suture closure, Pericarditis, Camptodactyly OMIM:601088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Aspiration, P... ORPHA:353277
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Flexion contracture of toe,... ORPHA:280633
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:220386
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Periodontitis, Internal hemorrhage... ORPHA:286
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Prominent scalp veins, Pneumonia, Delayed closure of the anteri... OMIM:264090
Stickler Syndrome
Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Osteoarthritis, Hip dis... ORPHA:828
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Hyperhidrosis OMIM:161700
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Prominent scalp veins, Hyperthyroidism, Recurrent skin infections, Camptodactyly of f... ORPHA:3455
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Respiratory distress, Angina... ORPHA:79318
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Atrial sep... OMIM:616268
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis, Subdural hemorrhage OMIM:619714
Acromegaly
Acne, Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhidrosis, Joint swe... ORPHA:963
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Biliary tract abnormality, Gout, Exocrine pancreatic insufficiency OMIM:137920
Somatomammotropinoma
Elevated circulating growth hormone concentration, Osteoarthritis, Hyperhidrosis, Joint swelling,... ORPHA:314769
Kabuki Syndrome 1
Joint dislocation, Hemolytic anemia, Atrial septal defect, Congenital hip dislocation, Ventricula... OMIM:147920
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Xerostomia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca... ORPHA:2363
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Doors Syndrome
Respiratory distress, Sagittal craniosynostosis, Congenital hypothyroidism, Gastroesophageal refl... ORPHA:79500
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Yunis-Varon Syndrome
Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Ventricular septal... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ctla4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ctla4.

No publications found that use IMPC mice or data for Ctla4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ctla4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctla4tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctla4tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctla4tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctla4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctla4tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter