| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Immunodeficiency 24 |
|
Respiratory tract infection, Decreased CD4:CD8 ratio, Decreased specific pneumococcal antibody le... |
OMIM:615897 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Folliculitis, Hepatitis, Erythema nodosum, Decreased circulatin... |
OMIM:300635 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... |
OMIM:618944 |
| Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Diarrhea, Recurrent respiratory infections, Absence of CD8-positive T c... |
OMIM:269840 |
| Immunodeficiency 27A |
|
Anemia, Diarrhea, Hepatosplenomegaly, Abnormal bronchus physiology, Anorexia, Histiocytosis, Incr... |
OMIM:209950 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... |
OMIM:618982 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Asthma, Ec... |
OMIM:607271 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, He... |
ORPHA:169160 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... |
OMIM:619220 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Bronchiectasis, Recurrent lower respiratory tract infections, Decreased lymphocyte proliferation ... |
OMIM:618534 |
| Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... |
OMIM:247800 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Chronic oral candidiasis, Decreased circulating total IgM, Reduced natu... |
OMIM:300400 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Immunodeficiency 102 |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-po... |
OMIM:301082 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Au... |
OMIM:618495 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, EEG abnormality |
ORPHA:436151 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Diarrhea, Bronchiectasis, Decreased circulating total IgM, B lymphocytopenia, Neu... |
OMIM:607594 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... |
ORPHA:158061 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, T lymphocytopenia, Sclerosing cholangitis, Decreased proportion of CD4-positive helper ... |
ORPHA:572 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Decreased... |
ORPHA:276 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Chronic diarrhea, T lymphocytopenia, Recurrent lower respiratory tract infections, Decreased lymp... |
ORPHA:169154 |
| Idiopathic Achalasia |
|
Bronchitis, Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, ... |
ORPHA:930 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... |
OMIM:616100 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bro... |
OMIM:618394 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Recurrent respiratory infections, Fulminant hepatitis, Decreased circulating ant... |
OMIM:308240 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... |
OMIM:617638 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Recurrent respiratory infections, Bronchiectasis, Decreased T cell activ... |
OMIM:300853 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Increased B cell count, Elev... |
OMIM:615559 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Ele... |
OMIM:618048 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Diarrhea, T lymphocytopenia, B lymph... |
OMIM:601457 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... |
OMIM:619802 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Recurrent respiratory infections, Bronchiectasis, Monocyt... |
OMIM:226990 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, Diarrhea, T lymphocytopenia, Eczema, Recurrent otitis media, Chronic muc... |
OMIM:608971 |
| Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... |
OMIM:617006 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Increased circulating inte... |
OMIM:614034 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Lack of T cell function, Inflammatory abnormality of the skin, T lymphocytopenia, B lym... |
ORPHA:277 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Hepatomegaly, Eosinophilia, Elevated proportion of CD4-negative... |
OMIM:603909 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, T lymph... |
ORPHA:217390 |
| Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ... |
ORPHA:2137 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Diarrhea, Bronchiectasis, Perianal abscess, Decreased circulat... |
OMIM:618108 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic tr... |
ORPHA:37042 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sclerosing cholangitis, Hepatomegaly, Thrombocytopenia, Impaired memory B cell generati... |
OMIM:308230 |
| Immunodeficiency 50 |
|
Neutropenia, Recurrent urinary tract infections, Decreased circulating antibody level, Eczema, Ly... |
OMIM:300988 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, Diarrhea, Decreased circulating total IgM, B lymphocy... |
OMIM:612692 |
| Immunodeficiency 52 |
|
Bronchiectasis, Decreased circulating antibody level, Increased proportion of gamma-delta T cells... |
OMIM:617514 |
| Immunodeficiency 70 |
|
Achalasia, Decreased circulating total IgM, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:618969 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... |
OMIM:209920 |
| Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Diarrhea, Bronchiectasis, Recurrent respiratory infections, Hepati... |
ORPHA:33110 |
| Avian Influenza |
|
Pneumothorax, Diarrhea, Productive cough, Elevated hepatic transaminase, Elevated circulating cre... |
ORPHA:454836 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Partial absence of speci... |
OMIM:619652 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Skin rash, Arthritis, Abdominal pain, Elevat... |
ORPHA:829 |
| Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... |
OMIM:619398 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Abnormal pulmonary interstitial morphology, Anemia, Abnormal natural killer cell physiology, Decr... |
OMIM:613101 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Asthma... |
ORPHA:449400 |
| Boutonneuse Fever |
|
Leukopenia, Diarrhea, Skin rash, Abdominal pain, Elevated hepatic transaminase, Thrombocytopenia,... |
ORPHA:83313 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... |
OMIM:601859 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocytopenia,... |
OMIM:619705 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, Wheezing, Eleva... |
OMIM:613490 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Recurrent bronchitis, Nephritis, Complement deficiency |
OMIM:216950 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... |
OMIM:618986 |
| Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Oligoarthritis, Reduced natural killer cell count, Vomiting, Chronic diarrhea, Decr... |
OMIM:619510 |
| Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Au... |
ORPHA:444463 |
| Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... |
OMIM:240500 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Vomiting, Diarrhea, Poor appetite, Hepatitis, Increased circulating antibody level, A... |
ORPHA:319218 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Malabsorptio... |
ORPHA:47 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... |
OMIM:617388 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, Diarrhea, Decreased circulating antibody lev... |
OMIM:614069 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Aspergillosis |
|
Bronchiectasis, Pleural effusion, Abnormal esophagus morphology, Eosinophilia, Pneumonia, Abnorma... |
ORPHA:1163 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... |
OMIM:619707 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
| Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Leukopenia, Anemia, Skin rash, Lymphopenia, Myositis, Pustule, Pustular rash, Increas... |
OMIM:615934 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Recurrent otitis m... |
OMIM:600802 |
| Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... |
OMIM:193670 |
| Legionnaires Disease |
|
Respiratory insufficiency, Diarrhea, Pericarditis, Bone marrow hypocellularity, Hyponatremia, Spl... |
ORPHA:549 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Bronchiectasis, T lymphocytopenia, Bowel irritability, Gastritis, Colitis, Recurrent sk... |
OMIM:619381 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Duode... |
OMIM:243150 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Decr... |
OMIM:616636 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
| Immunodeficiency 56 |
|
Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr... |
OMIM:615207 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Microscopic hematuria, Chronic lymphatic leukemia, Arthritis, Abdo... |
ORPHA:91139 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
| Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Malabsorption, Arthritis, Decr... |
OMIM:300310 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Chronic diarrhea, Colitis, Thrombocytopenia,... |
OMIM:614700 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Chronic diarrhea, Villous atrophy, Hepatitis, Arthritis, Coombs-positive ... |
OMIM:304790 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Cutan... |
OMIM:619752 |
| Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... |
OMIM:618806 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Ele... |
ORPHA:562639 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Nasogastric tube feeding in infancy, Aspiration pneumonia, Ele... |
ORPHA:90117 |
| Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
| Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... |
ORPHA:507 |
| Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... |
ORPHA:3392 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... |
OMIM:233650 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Reduced antigen-specific T cell proliferation, Abnormal B cell cou... |
ORPHA:331206 |
| Thymic Aplasia |
|
Hypothyroidism, Hypocalcemic tetany, Diarrhea, Chronic oral candidiasis, Decreased lymphocyte pro... |
ORPHA:83471 |
| Immunodeficiency 37 |
|
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... |
OMIM:616098 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat... |
ORPHA:381 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Proteinuria,... |
ORPHA:69126 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Splenomegaly, Anemia, Neutropenia, Nephrotic syndrome, Enlarge... |
OMIM:617303 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentration, Myosit... |
ORPHA:36234 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Reduced natural killer... |
OMIM:616050 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... |
OMIM:613179 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Abnormality of the gastrointestinal tract, Asthma, Wheezing, Hypoxemia, Pleura... |
ORPHA:2902 |
| Graft Versus Host Disease |
|
Diarrhea, Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Hepatosp... |
ORPHA:39812 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Recurrent upper and lower respiratory tract infections, Impaired Ig class switch re... |
OMIM:608106 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce... |
ORPHA:186 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... |
OMIM:616005 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Nephritis, Abnormal lung morphology, Sinusitis, ... |
ORPHA:449427 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Decreased circulating total IgM, Recurrent respiratory infections, Lack... |
ORPHA:35078 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... |
ORPHA:183675 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Neutropenia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pan... |
OMIM:614470 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Extramedullary hematop... |
OMIM:615285 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
| Immunodeficiency 23 |
|
Esophageal stricture, Neutropenia, Bronchiectasis, Allergic rhinitis, Asthma, Hemolytic anemia, I... |
OMIM:615816 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Lymph... |
ORPHA:859 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Diarrhea, Neutropenia, Recurrent bronc... |
OMIM:613501 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Erythroderma, C... |
ORPHA:540 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Malabsorption, Lymphopenia, Intestinal lymphangiectasia, Decreased circ... |
OMIM:152800 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Chronic bronchitis, Diarrhea, Bronchiectasis, T lymphocytopeni... |
OMIM:242860 |
| African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
EEG with generalized epileptiform discharges, Hyperinsulinemic hypoglycemia, Attention deficit hy... |
ORPHA:35878 |
| Familial Mediterranean Fever |
|
Diarrhea, Chronic constipation, Pericarditis, Pleural effusion, Hepatomegaly, Splenomegaly, Stage... |
OMIM:249100 |
| Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Rectal fistula, Intermittent diarrhe... |
OMIM:616433 |
| Congenital Enterovirus Infection |
|
Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin... |
ORPHA:292 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... |
OMIM:605258 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... |
OMIM:602450 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Diarrhea, Recurrent aspiration pneumonia, T lymphocytopenia, Elevated hepatic transaminase, Chron... |
ORPHA:79124 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Diarrhea, Prostatitis, Decreased resp... |
OMIM:307200 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Rec... |
OMIM:614878 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea... |
OMIM:613812 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Abnormality of complement system |
OMIM:613783 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... |
OMIM:613500 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Decreased circulating... |
ORPHA:1572 |
| Postinfectious Vasculitis |
|
Elevated haptoglobin level, Cryoglobulinemia, Viral hepatitis, Glomerulonephritis, Orchitis, Pneu... |
ORPHA:48435 |
| Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Chronic diarrhea, Keratitis, Recurr... |
OMIM:618523 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Absent specific antibody response, Hepatomegaly, Chronic diarrhea, Eosinophilia, Pneumo... |
OMIM:102700 |
| Chilblain Lupus |
|
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... |
ORPHA:90280 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Re... |
OMIM:616576 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Increased proportion of gamma-delt... |
OMIM:619774 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Porphyrinuria,... |
ORPHA:101330 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Cholestatic liver disease, Granuloma, Chilblains, Membranoproliferative glomeru... |
OMIM:619858 |
| Pneumocystosis |
|
Respiratory insufficiency, Increased circulating lactate dehydrogenase concentration, Chronic ora... |
ORPHA:723 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Fat malabsorption, Jaundice, Abnormal serum bile acid concentration, Elevated he... |
ORPHA:79303 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ne... |
OMIM:615214 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Achalasia, Desquamative interstitial pneumonitis, Decreased circulating antibody ... |
OMIM:615952 |
| Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Hepatomegaly, B... |
ORPHA:100024 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent respiratory infections |
OMIM:613495 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Perianal abscess, Eosinophilic infiltration of the esophagus, Decreased T cell a... |
OMIM:618213 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Bronchiectasis, T lymphocytopenia, Eczema, Hepatosplenomegaly, Abnormal intestine morph... |
ORPHA:391487 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:614379 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hypsarrhythmia, Hyperactivity, Agitation |
OMIM:619970 |
| Schnitzler Syndrome |
|
Anemia, Arthritis, Skin rash, Increased circulating IgM level, Hepatomegaly, Leukocytosis, Spleno... |
ORPHA:37748 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Skin rash, Abdominal pain, Neutrophilia, Increased circulating IgA level, Panniculitis,... |
OMIM:617099 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... |
ORPHA:36238 |
| Q Fever |
|
Elevated hepatic transaminase, Cryoglobulinemia, Hepatosplenomegaly, Pericarditis, Pleural effusi... |
ORPHA:781 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta... |
OMIM:611182 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Elevated circulating C... |
OMIM:604416 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... |
OMIM:615592 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Decreased lymphocyt... |
ORPHA:911 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Hypohidrosis, Proximal tubulopathy, Elevated hepatic transaminase, Unilateral renal ag... |
OMIM:614576 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Abno... |
ORPHA:90362 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Elevated hepatic transaminase,... |
OMIM:607765 |
| Immunodeficiency 11 |
|
Recurrent respiratory infections, Monocytopenia, Decreased circulating antibody level, Decreased ... |
OMIM:615206 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Ec... |
OMIM:618282 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas... |
ORPHA:171 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... |
OMIM:615139 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Myocarditis, Renal insufficiency, Nephrotic syndrome, Hepatitis, Sk... |
ORPHA:139402 |
| Beta-Thalassemia |
|
Respiratory insufficiency, Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Chol... |
ORPHA:848 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia |
OMIM:234350 |
| Immunodeficiency 15A |
|
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent otitis m... |
OMIM:618204 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Granuloma... |
OMIM:618935 |
| Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Myositis, Pleural effusion, Abnormality of the urinary system, Thrombocytopenia, Malar ... |
ORPHA:93552 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, T lymphocytopenia, Eczema, Hepatosplenomegaly, Chronic diarrhea, Erythroderma, Ps... |
OMIM:606367 |
| Immunodeficiency 22 |
|
Anemia, Chronic oral candidiasis, Diarrhea, Decreased circulating total IgM, Protracted diarrhea,... |
OMIM:615758 |
| Immunodeficiency 58 |
|
Chronic bronchitis, Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Chronic diarrh... |
OMIM:618131 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Chronic diarrhea... |
OMIM:619164 |
| Cystic Echinococcosis |
|
Abnormal subpleural morphology, Elevated hepatic transaminase, Abnormality of the peritoneum, Mul... |
ORPHA:400 |
| Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... |
OMIM:178500 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circul... |
OMIM:301081 |
| Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Functional abnormality of the gastrointestinal trac... |
ORPHA:29073 |
| C3 Glomerulopathy |
|
Mesangial hypercellularity, Decreased circulating complement C3 concentration, Glomerular extraca... |
ORPHA:329918 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent sinopulmonary infectio... |
OMIM:147060 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Circu... |
OMIM:607665 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... |
OMIM:615607 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased circulating co... |
ORPHA:2298 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hypothyroidism, Gastrostomy tube feeding in infancy, Hepatitis, Hyperspl... |
OMIM:613385 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Diarrhea, Perianal abscess, Increased circulating interleukin ... |
OMIM:301074 |
| Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Pleuritis, Nephritis, Pericarditis, Lupus ne... |
OMIM:152700 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Abnormal pulmona... |
ORPHA:227990 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
| Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Myosit... |
ORPHA:289390 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Celiac disease, Gra... |
ORPHA:227982 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Bloody diarrhea, Diarrhea, Hepatic steatosis, Hepatomegaly, Hematemesis, Thromboc... |
OMIM:615846 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... |
OMIM:242700 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Vomiting, Diarrhea, Increased circulating interleukin 6 concentration, Poor appetite, Abnormality... |
ORPHA:542323 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
| Shigellosis |
|
Hemolytic-uremic syndrome, Bloody diarrhea, Abnormal blood ion concentration, Hyponatremia, Tenes... |
ORPHA:810 |
| Isolated Agammaglobulinemia |
|
Anemia, Diarrhea, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnorm... |
ORPHA:229717 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration, Cirrhosis... |
ORPHA:90003 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Brain abscess, Diarrhea, Oliguria... |
ORPHA:544482 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis |
ORPHA:3327 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Elevated hepa... |
OMIM:617591 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Asthma, P... |
OMIM:615577 |
| Rift Valley Fever |
|
Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Hematuria, Uveitis, Anorex... |
ORPHA:319251 |
| Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Cirrhosis, Chronic diarrhea, Diarrhea, Villous atrophy, Decreased serum iron, Co... |
OMIM:614602 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, R... |
ORPHA:141152 |
| Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
| Angiostrongyliasis |
|
Hypereosinophilia, Vomiting, Poor appetite, Abdominal pain, Projectile vomiting, Increased circul... |
ORPHA:74 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Hyperuricemia, Decreased response to growth hormone... |
OMIM:203800 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... |
OMIM:615518 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Helicobacter pylori infection, Abnorma... |
ORPHA:2688 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Severe B lymphocytopenia, Hypoprot... |
OMIM:603554 |
| Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Hyperlysinuria, Diarrhea, Ornithinuria, Elevated hepatic transaminase,... |
ORPHA:470 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Nephr... |
OMIM:613404 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Intrahepatic biliary atresia, Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Jaund... |
OMIM:208085 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Decreased circulating complement C3 concentration, Hematuria, Elevated circul... |
ORPHA:231111 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis |
OMIM:114550 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Vomiting, Recurrent pneumonia, Pustule, Recurrent bronchiolitis, Secretory diarrhea, Increased ci... |
OMIM:616069 |
| Tick-Borne Encephalitis |
|
Leukopenia, Myelitis, Vomiting, Abnormality of serum cytokine level, Elevated hepatic transaminas... |
ORPHA:297 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Decreased circulating an... |
ORPHA:51636 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Dysphagia... |
OMIM:617519 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Wiskott-Aldrich Syndrome |
|
Diarrhea, Recurrent sinusitis, Eczema, Eosinophilia, Chronic diarrhea, Hematemesis, Decreased pro... |
OMIM:301000 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:70578 |
| Myh9-Related Disease |
|
Renal insufficiency, Congenital thrombocytopenia, Spontaneous, recurrent epistaxis, Elevated hepa... |
ORPHA:182050 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal natural killer ce... |
OMIM:615617 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Inc... |
ORPHA:449432 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Fat malabsorption, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased ... |
OMIM:214950 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Feeding difficulties in infancy, Dysphagia, Lactose intolerance, Feedi... |
ORPHA:411696 |
| Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Hemoperitoneum, Adrenal insufficiency, Elevated circulating creatine kinase concentrati... |
ORPHA:99827 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis |
ORPHA:411593 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Episodic vomiting, Homocitrullinuria, Hyperammonemia, Hepatomegaly, Hyperornit... |
OMIM:238970 |
| Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Mildly elevated creatine kinase, Paraproteinemia, Reduced vital capacity... |
ORPHA:171442 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Elevated ci... |
ORPHA:79095 |
| Microsporidiosis |
|
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Chronic diarrhea, Decreased prop... |
ORPHA:2552 |
| Tempi Syndrome |
|
Increased hematocrit, Abnormality of the kidney, Hypoxemia, Polycythemia, Transudative pleural ef... |
ORPHA:284227 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Diarrhea, T lymphocytopenia, B lymph... |
OMIM:619313 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... |
OMIM:266265 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Pleural effusion, Celiac disease, Intestinal obstruction, Chronic dia... |
ORPHA:90363 |
| Al Amyloidosis |
|
Hepatomegaly, Dysphagia, Pulmonary interstitial high-resolution computed tomography abnormality, ... |
ORPHA:85443 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
| Prolidase Deficiency |
|
Anemia, Crusting erythematous dermatitis, Increased circulating antibody level, Asthma, Eczema, E... |
OMIM:170100 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Emphysema, Hepatomegaly |
ORPHA:60 |
| Wilson Disease |
|
Aminoaciduria, Decreased circulating ceruloplasmin concentration, Hyperphosphaturia, Hepatocellul... |
OMIM:277900 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Bloody diarrhea, Anemia, Diarrhea, Pleural empyema, Liver abscess, Abdominal pain, Elevated hepat... |
ORPHA:67 |
| Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Enuresis nocturna, Diarrhea, Decreased ci... |
ORPHA:420741 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Cough, Tubular luminal dilatation, Elev... |
OMIM:619468 |
| Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Elevated circulating alanine aminotransferase concentration, Vom... |
OMIM:614921 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Recurrent respiratory infections, Decreased circulating total IgM, Decreased circula... |
ORPHA:2643 |
| Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... |
ORPHA:353298 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Brain abscess, Recurrent respiratory infections, Hypoxem... |
OMIM:610910 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Abnormality of the liver, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, ... |
ORPHA:91138 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
| X-Linked Immunoneurologic Disorder |
|
Abnormal pleura morphology, Decreased circulating IgG2 level, Recurrent respiratory infections, F... |
ORPHA:2571 |
| Coccidioidomycosis |
|
Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Panniculitis, Eosinophilia,... |
ORPHA:228123 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Hepatomegaly, Decrea... |
ORPHA:85450 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... |
ORPHA:48104 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Esophageal neoplasm, Acute lymphoblastic leukemia, Decreased proportion o... |
ORPHA:125 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
| Netherton Syndrome |
|
Hypereosinophilia, Villous atrophy, Allergic rhinitis, Asthma, Increased circulating IgE level, A... |
OMIM:256500 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
| Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminase, Pleural effusion, Gl... |
ORPHA:340 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Hyperprolinemia, Type I |
|
Hyperactivity, EEG abnormality |
OMIM:239500 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-positive... |
OMIM:208900 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Vomiting, Hyperglycinemia, Methylmalonic acidemia, Stag... |
OMIM:251000 |
| Zygomycosis |
|
Brain abscess, Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Coli... |
ORPHA:73263 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Diarrhea, Periodontitis, Neutrop... |
ORPHA:486 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Duodenal ulcer, Periodontitis, Nephritis, Recurrent upper respiratory tract infec... |
OMIM:217090 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Chronic constipation, Increased circulating interleukin 8 concentration, Elevated hepatic transam... |
OMIM:256040 |
| Sweet Syndrome |
|
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Increased circulating interleuki... |
ORPHA:3243 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Peeling Skin Syndrome 1 |
|
Asthma, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma, Increased circulating IgE level |
OMIM:270300 |
| Good Syndrome |
|
Anemia, Diarrhea, Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract i... |
ORPHA:169105 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Azotemia, Stage 5 chronic kidney di... |
OMIM:104200 |
| Mevalonic Aciduria |
|
Anemia, Vomiting, Elevated urine mevalonic acid level, Diarrhea, Skin rash, Morbilliform rash, El... |
OMIM:610377 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Impulsivity, Hyperactivity, Agitation |
ORPHA:100973 |
| Wilson Disease |
|
Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Hepatic steatos... |
ORPHA:905 |
| Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatitis, Abnormality of the kidne... |
ORPHA:449563 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Fat malabsorption, Elevat... |
ORPHA:811 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Melioidosis |
|
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Hepatitis, Liver absce... |
ORPHA:31202 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Abnormal intestine morphology, Impaired T cell function, Bone marrow... |
ORPHA:1830 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Diarrhea, Nausea and vomiting, Hepatitis, Normocytic anemia, Abdominal pain, Decre... |
ORPHA:199299 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Hypoalbuminemia, Colitis |
ORPHA:88643 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Abnormal pulmonary interstitial morpholog... |
ORPHA:77259 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Chronic dia... |
OMIM:300972 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Elevated circulatin... |
ORPHA:228302 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Vomiting, Elevated urine mevalonic acid level, Diarrhea, Chronic oral candidiasis,... |
OMIM:260920 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Anemia, Vomiting, Abnormal T cell morphology, Abnormality of humora... |
ORPHA:330015 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia |
ORPHA:464370 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Polycystic ki... |
OMIM:610199 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis |
OMIM:274240 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... |
OMIM:301068 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Abnormality of iron homeostasis, Diarrhea, Adrenal insufficiency, Extramedullary ... |
ORPHA:231226 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Abnormal circulating interleukin concentration |
ORPHA:319552 |
| Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis,... |
OMIM:278300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Hypospadias, Hyperammonem... |
OMIM:618253 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing |
ORPHA:97244 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus |
OMIM:618856 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Gastroesophageal reflux, Increased circulating prolactin concentration, ... |
ORPHA:562 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Abnormality of the urinary system, Hyperhidrosis, Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Sclerosi... |
ORPHA:64744 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... |
OMIM:615190 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... |
OMIM:266600 |
| Lujo Hemorrhagic Fever |
|
Diarrhea, Elevated hepatic transaminase, Crackles, Oliguria, Dysphagia, Thrombocytopenia, Nonprod... |
ORPHA:319213 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... |
ORPHA:1303 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
| Diarrhea 6 |
|
Abdominal pain, Crohn's disease, Chronic diarrhea |
OMIM:614616 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Chronic diarrhea, Abdominal pain,... |
OMIM:615895 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Adrenocorticotropin deficient adre... |
ORPHA:199296 |
| Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honeycombing, P... |
ORPHA:79126 |
| Complement Factor I Deficiency |
|
Septic arthritis, Decreased circulating complement factor B concentration, Decreased circulating ... |
OMIM:610984 |
| Junctional Epidermolysis Bullosa Inversa |
|
Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
| Fusariosis |
|
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Myositis, Pleural effusion, Panniculi... |
ORPHA:228119 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Hypohidrosis, Recurrent respiratory infections |
ORPHA:363523 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Ulcerative coliti... |
ORPHA:555905 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Diarrhea, Recurrent aspiration pneumonia, Decreased proportion of CD4-positive helper T cells, Ps... |
ORPHA:221139 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Respiratory insufficiency, Hepatic fibrosis, Jaundice, Pulmonary hypoplasia, Ne... |
OMIM:208500 |
| Gaucher Disease |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cirrhosis, Abnormal pulmonary interst... |
ORPHA:355 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Epis... |
ORPHA:26793 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:611521 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration |
OMIM:253700 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Hypera... |
OMIM:614582 |
| Transcobalamin Ii Deficiency |
|
Vomiting, Decreased circulating total IgM, Diarrhea, Reticulocytopenia, Erythroid hypoplasia, Pan... |
OMIM:275350 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| Zika Virus Disease |
|
Conjunctivitis, Vomiting, Myelitis, Skin rash, Arthritis, Thrombocytopenia, Increased circulating... |
ORPHA:448237 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, EEG abnormality, EEG with focal sharp slow waves |
ORPHA:2382 |
| Omenn Syndrome |
|
Hypothyroidism, Anemia, Chronic diarrhea, Nephrotic syndrome, Thyroiditis, Hepatomegaly, Erythrod... |
ORPHA:39041 |
| Leptospirosis |
|
Hyperproteinemia, Pulmonary hemorrhage, Diarrhea, Nausea and vomiting, Hepatitis, Skin rash, Jaun... |
ORPHA:509 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, Diarrhea, B lymphocytope... |
OMIM:150550 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Blepharitis, Increased circulating IgE l... |
OMIM:614328 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
| Yellow Fever |
|
Diarrhea, Elevated circulating creatine kinase concentration, Hematemesis, Thrombocytopenia, Elev... |
ORPHA:99829 |
| Sepsis In Premature Infants |
|
Diarrhea, Oliguria, Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Enter... |
ORPHA:90051 |
| Alg12-Cdg |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Elevated hepa... |
ORPHA:79324 |
| Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Eosinophilia, Decreased liver function, Increased circulating antibody level, ... |
ORPHA:284 |
| Ciliary Dyskinesia, Primary, 25 |
|
Gastroesophageal reflux, Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Po... |
OMIM:615482 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Scleritis, Glomerulonephritis, Macroscopic hematuria, Renal intersti... |
ORPHA:93126 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Vomiting, Proximal tubulopathy, Diarrhea, Villous atrophy, Neph... |
OMIM:212065 |
| Netherton Syndrome |
|
Aminoaciduria, Decreased circulating antibody level, Malabsorption, Skin rash, Asthma, Eczema, Em... |
ORPHA:634 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Diarrhea, Elevated h... |
ORPHA:247598 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Productive cough, Bronchiectasis, Abnormal respiratory system physio... |
ORPHA:60033 |
| Riddle Syndrome |
|
Pulmonary fibrosis, Decreased circulating IgG level |
OMIM:611943 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Skin rash, Normocytic anemia, Glomerular sclerosis, El... |
ORPHA:247691 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... |
ORPHA:63 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation of the large intestine, ... |
ORPHA:324964 |
| Timothy Syndrome |
|
Bronchitis, Hypothyroidism, Hypocalcemia, Pneumonia |
OMIM:601005 |
| Listeriosis |
|
Septic arthritis, Brain abscess, Diarrhea, Pericarditis, Pneumonia, Splenic abscess, Abscess, End... |
ORPHA:533 |
| Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Pleural effusion, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial mor... |
OMIM:181000 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor |
OMIM:618970 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, R... |
ORPHA:79404 |
| Lassa Fever |
|
Conjunctivitis, Diarrhea, Nausea and vomiting, Jaundice, Abdominal pain, Dyspnea, Cough, Increase... |
ORPHA:99824 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Hyperlysinemia, Aspiration pneumonia, Renal tubular acidosis, Central sleep apnea, Decreased plas... |
ORPHA:431361 |
| Isolated Sedoheptulokinase Deficiency |
|
Anemia, Renal insufficiency, Hepatitis, Abnormal renal tubule morphology, Neonatal asphyxia, Stea... |
ORPHA:440713 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Episodic abdominal pain, Hepatic failure, Elevated circulating acyl... |
ORPHA:157 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dysphagia, Hyp... |
ORPHA:94093 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Cirrhosis, Gastrostomy tube feeding in infancy, Hepatitis, Hypersplenism, Thyroid... |
ORPHA:228426 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Increased circulating antibody level, Pustule |
ORPHA:48377 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Abdominal pain, Intestinal obstruction, Hepat... |
ORPHA:343 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Diarrhea, Elevated hepatic transaminase, Reticulocytosis, Elevated circulating c... |
ORPHA:99826 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Leukopenia, Esophageal stricture, Aspiration pneumonia, Achalasia, Anemi... |
OMIM:617053 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormality, EEG with... |
ORPHA:98818 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
| Scleromyxedema |
|
Gastroesophageal reflux, Hypoperistalsis, Exertional dyspnea, Abnormality of the gastrointestinal... |
ORPHA:167635 |
| Scedosporiosis |
|
Endocarditis, Septic arthritis, Bronchitis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal j... |
ORPHA:449280 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Diarrhea, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosple... |
OMIM:618278 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity, Hepatosple... |
ORPHA:2590 |
| Uremic Pruritus |
|
Elevated total serum tryptase, Abnormality of serum cytokine level, Inflammatory abnormality of t... |
ORPHA:94059 |
| Idiopathic Hypereosinophilic Syndrome |
|
Feeding difficulties in infancy, Elevated hepatic transaminase, Eczema, Hepatosplenomegaly, Pleur... |
ORPHA:3260 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Hypoxemia, Respiratory distress, Abnormal platelet granules, G... |
ORPHA:238459 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Skin rash, Lymphocytosis, Inflammation of the large intestine, Colonic eosinophi... |
OMIM:617718 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Hyperuricemia, Anemia, Re... |
OMIM:613845 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthri... |
ORPHA:1855 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Intermittent diarrhea, Recurrent aspiration pneumonia, Malnutrition, Fee... |
OMIM:619971 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Bronchiectasis, Decreased circulating anti... |
ORPHA:293978 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Gastrostomy tube feeding in infancy, Renal tubular acidosis, Nephro... |
ORPHA:255249 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Poor appetite, Jaundice, Elevated hepatic transaminase, Has... |
OMIM:618549 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Protein avoidance, Episodic vomiting, ... |
ORPHA:415 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Caffey Disease |
|
Increased circulating antibody level, Feeding difficulties in infancy, Respiratory insufficiency |
ORPHA:1310 |
| Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Airway obstruction, Bone marrow hypocellularity, Thrombocytopenia, Heavy prot... |
ORPHA:505248 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Diarrhea, Peritonitis, Elevated hepatic transaminase, Portal inflammation, Eczema,... |
OMIM:619991 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Cough, Eosinophilia, Recurrent respiratory infections, Increase... |
ORPHA:2314 |
| Myasthenia Gravis |
|
Hyperthyroidism, Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Glycosuria, Primary adrenal i... |
ORPHA:589 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Elevated circulating cre... |
ORPHA:228308 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Vici Syndrome |
|
Leukopenia, Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Decreased T ... |
OMIM:242840 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... |
OMIM:613807 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Diarrhea, Unconjugated hyperbilirubinemia, Reticulocytosis, Hyponatremia, Thromb... |
ORPHA:90038 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia, Nasogastric tube feeding |
OMIM:619057 |
| Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... |
OMIM:615451 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment |
OMIM:520000 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
| Nijmegen Breakage Syndrome |
|
Diarrhea, Bronchiectasis, Recurrent urinary tract infections, T lymphocytopenia, B lymphocytopeni... |
OMIM:251260 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:66628 |
| Bloom Syndrome |
|
Malar rash, Decreased circulating total IgM, Bronchiectasis, Hepatic steatosis, Recurrent upper r... |
OMIM:210900 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
| X-Linked Centronuclear Myopathy |
|
Poor suck, Recurrent respiratory infections, Feeding difficulties in infancy, Respiratory distres... |
ORPHA:596 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Pulmona... |
OMIM:602088 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, He... |
OMIM:612301 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Neutropenia, Enlarged kidney, Elevated hepatic transaminase, Hepatoc... |
OMIM:232220 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Respiratory insufficiency, Hypothyroidism, Elevated hepatic transaminase, Feeding difficulties, T... |
OMIM:620005 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:179494 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroid... |
ORPHA:79078 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Anemia, Hyperuricemia, Stage 5 chronic kidne... |
OMIM:174000 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Glomerulopathy, Myositis, Intestinal obstruction, Eosinophilia, Dyspha... |
ORPHA:183 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abdominal pain, Abnormal stomach morphology, Abnormal... |
ORPHA:2357 |
| Acute Liver Failure |
|
Hypocapnia, Vomiting, Diarrhea, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, E... |
ORPHA:90062 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Decreased nerve conducti... |
ORPHA:206443 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... |
ORPHA:231154 |
| Syndromic Diarrhea |
|
Hypothyroidism, Bloody diarrhea, Abnormality of iron homeostasis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
| Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, S... |
OMIM:232240 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Hypothyroidism, Atrophic gastritis, Diarrhea, Chronic oral candidiasis, Chronic active ... |
OMIM:240300 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hypohidrosis, Chronic diarrhea, Bronchiectasis, Increased circulating interleukin 8 concentration... |
OMIM:301220 |
| Cholera |
|
Vomiting, Aspiration pneumonia, Diarrhea, Achlorhydria, Abnormality of renal excretion, Acute kid... |
ORPHA:173 |
| Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, Steatorrhe... |
OMIM:269200 |
| Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Increased lev... |
OMIM:215600 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia, Esophageal stricture, Urethral stricture, Gastrointestinal inflammation, Abnormality of t... |
ORPHA:79409 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Restric... |
OMIM:614376 |
| Mogs-Cdg |
|
Hypothyroidism, Hypoventilation, Decreased circulating total IgM, Pulmonary edema, Decreased circ... |
ORPHA:79330 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, ... |
OMIM:617595 |
| Congenital Analbuminemia |
|
Increased circulating antibody level, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, ... |
ORPHA:86816 |
| Immunodeficiency 68 |
|
Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia, B lymphoc... |
OMIM:612260 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Immunodeficiency 31C |
|
Hypothyroidism, Recurrent vulvovaginal candidiasis, Osteomyelitis, Diarrhea, Bronchiectasis, Vill... |
OMIM:614162 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Dysphagi... |
ORPHA:447 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Abdominal pain, Deep dermal peri... |
ORPHA:49041 |
| Relapsing Polychondritis |
|
Glomerulopathy, Scleritis, Inflammatory abnormality of the eye, Pericarditis, Abnormal pattern of... |
ORPHA:728 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholest... |
ORPHA:79259 |
| Kawasaki Disease |
|
Conjunctivitis, Abnormal pulmonary interstitial morphology, Diarrhea, Nausea and vomiting, Hepati... |
ORPHA:2331 |
| Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
| Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
| Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Decreased circulating complement C3 concentration, Acu... |
OMIM:612925 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Recurrent sinusitis, Perioral eczema, El... |
OMIM:613960 |
| Complement Factor B Deficiency |
|
Decreased circulating complement factor B concentration, Peritonitis, Pneumonia |
OMIM:615561 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... |
ORPHA:1164 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Vici Syndrome |
|
Renal tubular acidosis, Feeding difficulties in infancy, Decreased circulating IgG2 level, Ureter... |
ORPHA:1493 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Abnormality of the urinary system, IgA deposition in the glomerulus, Ren... |
ORPHA:79408 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase, Diarrhea, Poor appetite, Impaired T cell function, Hepatomegaly, Spleno... |
OMIM:201100 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Recurrent aspiration pneumonia, Abn... |
ORPHA:79243 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Hepatitis, Feeding difficulties in infancy, Skin rash, Hematu... |
ORPHA:1334 |
| Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Renal interstitial amyloid deposits, Abnormal renal me... |
ORPHA:439232 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiri... |
ORPHA:140896 |
| Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
| Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertion, Hepatom... |
ORPHA:60025 |
| Mercury Poisoning |
|
Episodic abdominal pain, Acute kidney injury, Interstitial pneumonitis, Hypokalemia, Respiratory ... |
ORPHA:330021 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Jaundice, Microangiopathic hemolytic anemia, Respiratory distress, Abn... |
OMIM:274150 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Decreased circulating complement C3 concentration, Acu... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Decreased circulating complement C3 concentration, Acu... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Decreased circulating complement C3 concentration, Acu... |
OMIM:612926 |
| Bronchial Neuroendocrine Tumor |
|
Hepatic failure, Abnormal pulmonary interstitial morphology, Increased circulating cortisol level... |
ORPHA:97287 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Portal fibro... |
OMIM:615862 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Lymphopenia, Meckel diverticulum, Increased circulating IgA level, Feeding diff... |
OMIM:616395 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Recurrent aphthous stomatitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell... |
OMIM:615966 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormality of the urinary system, Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
| Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... |
OMIM:244400 |
| Leukocyte Adhesion Deficiency |
|
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... |
ORPHA:508533 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnor... |
OMIM:301013 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Lichen Planopilaris |
|
Hepatitis, Abnormal intestine morphology |
ORPHA:525 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Diarrhea, Abnormality of the anus, Keratoconjunctivitis sicca, Elevated hepatic transaminase, Pne... |
ORPHA:95455 |
| Mgat2-Cdg |
|
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Decreased lymphocyte proliferation ... |
ORPHA:79329 |
| Mucopolysaccharidosis Type 7 |
|
Abnormal pleura morphology, Hepatitis, Mucopolysacchariduria, Recurrent respiratory infections, S... |
ORPHA:584 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
| Ciliary Dyskinesia, Primary, 35 |
|
Abdominal situs ambiguus, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic... |
OMIM:617092 |
| Cocaine Intoxication |
|
Bloody diarrhea, Pneumothorax, Elevated circulating creatine kinase concentration, Glomerulonephr... |
ORPHA:90068 |
| Thrombocytopenia 1 |
|
Eczema, Increased circulating IgE level, Epistaxis, Increased circulating IgA level, Congenital t... |
OMIM:313900 |
| Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic sinusitis, Recurrent otitis... |
OMIM:616481 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Achalasia, Tracheobronchial leiomyomatosis, Esophageal neoplasm, Abnormal esophagus morphology, D... |
ORPHA:1018 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... |
ORPHA:436252 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Hyposerinemia, Hypospadias, Esophagitis, Feeding difficulties |
ORPHA:79350 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
| Sarcoidosis |
|
Hypothyroidism, Pneumothorax, Bronchiectasis, Keratoconjunctivitis sicca, Pleural effusion, Incre... |
ORPHA:797 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Ins... |
ORPHA:73272 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Anhidrosis, Hepatomegaly, Thrombocytopenia, Pneumonia, Chronic ot... |
ORPHA:169090 |
| Hereditary Renal Hypouricemia |
|
Vomiting, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physio... |
ORPHA:94088 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Recurrent respiratory infections, T lymphocytopenia, Rheumatoid arthritis, Juveni... |
OMIM:607944 |
| Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Vomiting, Eosinophilia, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Vomiting, Eosinophilia, Dysphagia |
OMIM:610247 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Impaired oropharyngeal swallow response, Restrictive ventilatory ... |
ORPHA:98897 |
| Nocardiosis |
|
Brain abscess, Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumon... |
ORPHA:31204 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Leukopenia, Anemia, Decreased response to growth hormone stimulation test,... |
OMIM:603467 |
| Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... |
ORPHA:70587 |
| Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Decreased circulating IgG level, Decreas... |
OMIM:602668 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tube feeding, Hyperhidrosis, Aspiration pneumonia, Episodic tachypnea, Abnormal circulating enzym... |
ORPHA:79264 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hypsarrhythmia, Hyperactivity |
OMIM:619239 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Interstitial pneumonitis, Lymphopenia, Aplastic ... |
OMIM:127550 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Recurrent gastroenteritis, Hepatosplenomegaly, Oligosacchariduria, Pneumonia |
ORPHA:309288 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
| Dyschondrosteosis And Nephritis |
|
Nephritis |
OMIM:127350 |
| Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Biliary tract neoplasm, Ren... |
ORPHA:662 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Urinary urgency, Crohn's disease |
OMIM:619621 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Chronic bronchitis, Stage 5 chronic kidney diseas... |
OMIM:616629 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Polycystic kidney dysplasia, Abnorma... |
ORPHA:2237 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
| Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Chronic diarrhea, Hematemesis... |
ORPHA:906 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgG level, Erythema nodosum, Decreased circulat... |
ORPHA:3132 |
| Nail-Patella Syndrome |
|
Morphological abnormality of the gastrointestinal tract, Nephrotic syndrome, Stage 5 chronic kidn... |
ORPHA:2614 |
| Japanese Encephalitis |
|
Vomiting, Diarrhea, Respiratory paralysis, Pulmonary edema, Increased circulating antibody level,... |
ORPHA:79139 |
| Dyskeratosis Congenita, Digenic |
|
Gastroesophageal reflux, Anemia, Decreased circulating total IgM, Decreased circulating IgA level... |
OMIM:620040 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Hematuria, Chronic mucocutaneous candidiasis, Rec... |
OMIM:158310 |
| Dubowitz Syndrome |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Acute lymphoblastic leukemia, Eczema, E... |
OMIM:223370 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Anemia, Increased ci... |
ORPHA:77261 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
| Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... |
ORPHA:79128 |
| Feingold Syndrome Type 1 |
|
Vesicoureteral reflux, Jejunal atresia, Gastrointestinal atresia, Esophageal atresia, Renal dyspl... |
ORPHA:391641 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... |
OMIM:620133 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Vomiting, Jaundice, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia, Pneumonia |
ORPHA:90790 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia, Gastrostomy tube feeding in infancy, A... |
ORPHA:845 |
| Acute Disseminated Encephalomyelitis |
|
Vomiting, Herpes simplex encephalitis, Myelitis, Viral hepatitis, Optic neuritis, Nausea, Respira... |
ORPHA:83597 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Aspiration pneumonia, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
| Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Malabsorption, Asthma, Keratoconjunctivitis sicca, Intestinal obstruction, Chronic ... |
OMIM:601675 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Renal cortical hyperechogenicity, Anuria, Microcolon, Pyelone... |
OMIM:619351 |
| Cryptococcosis |
|
Cirrhosis, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leuk... |
ORPHA:1546 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, I... |
ORPHA:2905 |
| Lissencephaly Due To Lis1 Mutation |
|
Feeding difficulties, Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Anemia, Recurrent aspiration pneumonia, Apnea, Thrombocytopenia, Cough, ... |
OMIM:230900 |
| Degcags Syndrome |
|
Abnormal renal cortex morphology, Hepatosplenomegaly, Hepatomegaly, Feeding difficulties, Pneumon... |
OMIM:619488 |
| Cleft Velum |
|
Aspiration pneumonia, Poor suck, Recurrent otitis media, Nasal regurgitation, Oral-pharyngeal dys... |
ORPHA:99772 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hep... |
OMIM:615356 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Abnormal respiratory system physiology, Respiratory failure, Fe... |
ORPHA:98905 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Diarrhea, Bronchiectasis, Hepatosplenomegaly, Decreased forced expiratory flow... |
OMIM:219700 |
| Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Recurrent lower respiratory tract infections, Chronic sinusitis... |
OMIM:618699 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Impaired T cell function, Recur... |
ORPHA:30 |
| Viss Syndrome |
|
Hypothyroidism, Pneumothorax, Chronic constipation, Eczema, Celiac disease, Chronic diarrhea, Dys... |
OMIM:619472 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
| Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Vomiting, Abdominal pain, Mastocytosis, Pneumonia |
ORPHA:2135 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hypocapnia, Osteomyelitis, Exertional dyspne... |
ORPHA:70591 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Encephalitis Lethargica |
|
Bowel incontinence, Urinary incontinence, Hyperventilation, Increased circulating antibody level |
ORPHA:83600 |
| Roifman-Chitayat Syndrome |
|
Ectopic kidney, Arthritis, Pneumonia |
OMIM:613328 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal hypoplasia... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal hypoplasia... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal hypoplasia... |
ORPHA:99226 |
| Turner Syndrome |
|
High urinary gonadotropin level, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal hypoplasia... |
ORPHA:881 |
| Zollinger-Ellison Syndrome |
|
Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Increased urinary cortisol level... |
ORPHA:913 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Vomiting, Megaloblastic anemia, Hyposerinemia, Hypoglycinemia, Esophagit... |
ORPHA:79351 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Infectious encephalitis, Aspiration pneumonia, Gastrostomy tube feeding ... |
ORPHA:354 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Gastroesophageal reflux, T lymphocytopenia, Central sleep apnea, Neoplasm of the pancreas, Elevat... |
ORPHA:2959 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... |
OMIM:258900 |
| Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
| Chops Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Aspiration pneumonia, Anomalous pulmonary venous ... |
OMIM:616368 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Vesicoureteral reflux, Pneumothorax, Recurrent urinary tract infection... |
ORPHA:90349 |
| Gitelman Syndrome |
|
Diarrhea, Neoplasm of the pancreas, Graves disease, Decreased urinary potassium, Hyperhidrosis, R... |
ORPHA:358 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... |
OMIM:140000 |
| Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Renal dysplasia, Recurrent sinusitis, Hepatic steatosis... |
OMIM:188400 |
| Alström Syndrome |
|
Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepat... |
ORPHA:64 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Anemia, Episodic vomiting, Hematemesis, Esophagitis, Feeding difficultie... |
ORPHA:71272 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
| Occipital Horn Syndrome |
|
Gastroesophageal reflux, Poor suck, Recurrent urinary tract infections, Hepatitis, Jaundice, Blad... |
ORPHA:198 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
| 22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Feeding difficulties in infancy, Impaired T cell functi... |
ORPHA:567 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
| Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Recurrent otitis media, Horseshoe kidney, Macrocytic anemia, Esophagitis, ... |
OMIM:612562 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Increased circulating prolactin concentration, Diarrhea, Increased circulating cort... |
OMIM:131100 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Hydronephrosis, Congenital megaureter, ... |
ORPHA:280633 |
| Gastroesophageal Reflux |
|
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
| Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Respiratory failure, Hypoventilation, Poor suck, Recurrent aspiration pn... |
ORPHA:70 |
| Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... |
ORPHA:35069 |
| Cornelia De Lange Syndrome 1 |
|
Gastroesophageal reflux, Vesicoureteral reflux, Pyloric stenosis, Renal cyst, Reduced renal corti... |
OMIM:122470 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia, Ketonuria, Lacticaciduria, Hepatomegaly, Feeding difficulties |
OMIM:619167 |
| Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Microvesicular hepatic steatosis, Periportal fibrosi... |
OMIM:124000 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
| Esophageal Atresia |
|
Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary syst... |
ORPHA:1199 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Feeding difficulties in infancy, Respiratory distress, Apn... |
ORPHA:314655 |
| Trichinellosis |
|
Conjunctivitis, Skin rash, Nausea, Dysphagia, Increased circulating IgE level |
ORPHA:863 |
| Chronic Graft Versus Host Disease |
|
Pneumothorax, Diarrhea, Bronchiectasis, Fasciitis, Keratoconjunctivitis sicca, Elevated hepatic t... |
ORPHA:99921 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Multicystic kidney dysplasia, Crossed fused renal ectopia, Esophageal at... |
ORPHA:2538 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Gastroesophageal reflux, Penile hypospadias, Recurrent aspiration pneumonia, Elevated hepatic tra... |
ORPHA:73230 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Plague |
|
Lymphadenitis, Endocarditis, Bloody diarrhea, Vomiting, Enterocolitis, Diarrhea, Erythema nodosum... |
ORPHA:707 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
| Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis |
ORPHA:1560 |
| Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Respiratory tract infection, Intermittent diarrhea, Aspiratio... |
ORPHA:581 |
| Amoebiasis Due To Free-Living Amoebae |
|
Respiratory tract infection, Vomiting, Increased red blood cell count, Granuloma, Pustule, Sinusi... |
ORPHA:68 |
| Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
| Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Chronic constipation, Dermatan sulfate excretion in urine, Restr... |
OMIM:253200 |
| Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic failure, Hepatic fibrosis, Stage 1 chronic kidney disease, ... |
OMIM:218330 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
| Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Extrahepatic cholestasis, Episodic abdominal pain, Increased urinary cortisol level... |
ORPHA:276152 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Recurrent gastroenteritis, Hepatosplenomegaly, Pancytopenia, ... |
ORPHA:309282 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Gastroesophageal reflux, Urinary incontinence, Hypoventilation, Aspiration pneumonia, Achalasia, ... |
OMIM:619482 |
| Arnold-Chiari Malformation Type Ii |
|
Neurogenic bladder, Apnea, Dysphagia, Feeding difficulties, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Aspiration pneumonia, Micronodular cirrhosis, Hepatomegaly, Thrombocytopenia, Sp... |
OMIM:301072 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
| Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Decreased beta-galactosidase activity, Hepatosplenomegaly, Increased urinar... |
ORPHA:79255 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Conjunctivitis, Renal duplication, Recurrent urinar... |
ORPHA:33001 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia, Laryngotracheomalacia, Decreased circulating IgG level |
OMIM:271510 |
| Autosomal Dominant Cutis Laxa |
|
Vomiting, Bronchiectasis, Pyelonephritis, Small bowel diverticula, Bladder diverticulum, Emphysem... |
ORPHA:90348 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Dysphagia... |
ORPHA:488627 |
| Scalp-Ear-Nipple Syndrome |
|
Hypohidrosis, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Dupl... |
ORPHA:2036 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears |
ORPHA:401973 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Gastroesophageal reflux, Renal cortical cysts, Renal insufficiency, Recurrent aspiration pneumoni... |
ORPHA:397715 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Hypoparathyroidism, Pulmonary artery atresia, Hypocalcemia, Unilateral ... |
OMIM:192430 |
| Cystic Fibrosis |
|
Meconium ileus, Gastroesophageal reflux, Cirrhosis, Abnormality of the liver, Pneumothorax, Bronc... |
ORPHA:586 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level, Constipation, Feeding diff... |
OMIM:617062 |
| Localized Scleroderma |
|
Gastroesophageal reflux, Arthritis, Fasciitis, Abnormality of the kidney, Uveitis, Hashimoto thyr... |
ORPHA:90289 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Hereditary Hyperekplexia |
|
Esophagitis, Gastroesophageal reflux, Hiatus hernia |
ORPHA:3197 |
| Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Low cholesterol esterification rate, Hepatic failure, Abnormality of t... |
ORPHA:646 |
| Scalp-Ear-Nipple Syndrome |
|
Hypohidrosis, Pyelonephritis, Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency |
OMIM:181270 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Increased circulating prolactin concentration, Hypoventilation, Aspirati... |
ORPHA:438213 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Esophageal stricture, Abnormality of the anus, Periodontitis, Phimosis, E... |
ORPHA:2908 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Gastroesophageal reflux, Hyperhidrosis, Vomiting, Decreased response to growth hormone stimulatio... |
ORPHA:96182 |
| Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... |
OMIM:618223 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
| Progeroid Short Stature With Pigmented Nevi |
|
Vomiting, Allergic conjunctivitis, Esophageal ulceration, Allergic rhinitis, Hypospadias, Impaire... |
OMIM:176690 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, Recurrent gastroenteritis, Hypercapnia, Dyspnea, Respiratory failure... |
ORPHA:79138 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Chronic constipation, Recurrent aspiration pneumonia |
OMIM:300472 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Vomiting, Aspiration pneumonia, Increased circulating prolactin concentration, ... |
ORPHA:79318 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... |
ORPHA:99104 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Nasogastric tube feeding in infancy, Aspiration pneumonia, Poor appetite, Weakness of muscles of ... |
ORPHA:2020 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Pyloric st... |
OMIM:602535 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Respiratory failure, Pyloric stenosis, Respiratory distress, Cardiorespi... |
ORPHA:3342 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Asthma, Abnormality of the kidney, Epistaxis, Constipation, Dysphagia, Esophagitis, Micropenis |
ORPHA:495818 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... |
ORPHA:99103 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Gastroesophageal reflux, Respiratory failure, Gastrostomy tube feeding in inf... |
ORPHA:500150 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Esophagitis, Gastroesophageal reflux, Hiatus hernia |
ORPHA:1901 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Gastroesophageal reflux, Vesicoureteral reflux, Recurrent respiratory infections, Recurrent urina... |
ORPHA:353281 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Hypothyroidism, Vesicoureteral reflux, ... |
ORPHA:444077 |
| Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Recurrent aspiration pneumonia, Ectopic anus, Feeding difficulties in infa... |
ORPHA:2745 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Recurrent respiratory infections, Long penis, Hypospadias, Pneumonia, D... |
OMIM:264090 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Septic arthritis, Hyperhidrosis, Anemia, Osteomyelitis, Recurrent aspiration pneumonia, Abnormali... |
ORPHA:642 |
| Alobar Holoprosencephaly |
|
Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, ... |
ORPHA:220386 |
| Pitt-Hopkins Syndrome |
|
Gastroesophageal reflux, Aganglionic megacolon, Abnormal pattern of respiration, Constipation, Sl... |
ORPHA:2896 |
| Coffin-Siris Syndrome |
|
Aspiration pneumonia, Hepatoblastoma, Hypospadias, Recurrent upper respiratory tract infections, ... |
ORPHA:1465 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Gastroesophageal reflux, Nasogastric tube feeding in infancy, Vesicoureteral reflux, Recurrent re... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Gastroesophageal reflux, Nasogastric tube feeding in infancy, Vesicoureteral reflux, Recurrent re... |
ORPHA:353277 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Hemolytic anemia, Recurrent aspiration pneumonia, Malabsorption, Fee... |
OMIM:147920 |
| Doors Syndrome |
|
Gastroesophageal reflux, Aspiration pneumonia, Poor suck, Increased urine alpha-ketoglutarate con... |
ORPHA:79500 |
| Lafora Disease |
|
Hepatic failure, Nasogastric tube feeding, Recurrent aspiration pneumonia |
ORPHA:501 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pyloric stenosis, Hypospadias, Feeding dif... |
OMIM:216340 |
