Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Reduced sperm motility, Short stature, Abnormal central microtubular pair mor... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Chronic bronchitis, Reduced sperm motility, Otitis media, Absent inner dynein arm... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Short stature, Abnormal ce... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Recurrent otitis media, Immotile sperm, Chronic bronchitis, Abnormal axonemal organi... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Absent central microtubular pair morphology of respiratory motile cilia, Neonatal... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia, Recurrent otitis media, Respiratory insufficiency ... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Male ... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615500 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... |
ORPHA:922 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... |
OMIM:242680 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Chronic sinusitis, Ciliar... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Chronic bronchitis,... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 13 |
|
Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary... |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Skin rash, Otitis media, Cellulitis, Short stature, Sepsis, Abnorma... |
ORPHA:229717 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... |
OMIM:215520 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neona... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Infertility, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, ... |
OMIM:606763 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... |
OMIM:312863 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... |
OMIM:226990 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615504 |
Scedosporiosis |
|
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... |
ORPHA:449280 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615444 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dysk... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... |
OMIM:618801 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Abnormal respir... |
OMIM:242670 |
Ciliary Dyskinesia, Primary, 25 |
|
Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B... |
OMIM:615482 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Abnormal respiratory motile cilium morphology, Ciliary dyskine... |
OMIM:225050 |
X-Linked Agammaglobulinemia |
|
Alopecia, Sepsis, Abnormal lung morphology, Weight loss, Osteomyelitis, Cellulitis, Arthritis, He... |
ORPHA:47 |
Felty Syndrome |
|
Sepsis, Weight loss, Pericarditis, Rhinitis, Cellulitis, Splenomegaly, Recurrent urinary tract in... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal resp... |
OMIM:615294 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cellulitis, Se... |
ORPHA:33110 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Female infertility, Anomalous pulmonary venous return, Chronic sinusitis, Pol... |
ORPHA:244 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... |
OMIM:614935 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent upper ... |
ORPHA:277 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
High-frequency hearing impairment, Otitis media, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:300455 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Short stature, Recurrent bacterial infections, Recurrent otitis m... |
OMIM:616022 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Selective Igm Deficiency |
|
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... |
ORPHA:331235 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... |
OMIM:617092 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent skin infections, Increased propor... |
OMIM:301082 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... |
OMIM:618300 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Asthma, Recurrent upper and lower respiratory tract infections, Sinusitis, Otitis media, Atopic d... |
ORPHA:70593 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Aspergillosis |
|
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... |
ORPHA:1163 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent bronchitis, Chronic sinusitis, Recur... |
OMIM:612692 |
Cyclic Neutropenia |
|
Sinusitis, Periodontitis, Lymphopenia, Enterocolitis, Cellulitis, Otitis media, Recurrent skin in... |
ORPHA:2686 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Nasal polyposis, Absent frontal sinuses, Chronic otitis media, Chr... |
OMIM:244400 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, N... |
OMIM:613502 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 24 |
|
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Small for gestational age, Pulmonary hypoplasia, Postn... |
OMIM:616733 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, P... |
OMIM:307200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertens... |
OMIM:619003 |
Yellow Nail Syndrome |
|
Sinusitis, Yellow nails, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial hypertension,... |
ORPHA:662 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... |
ORPHA:183675 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... |
ORPHA:70589 |
Larsen-Like Syndrome, Lethal Type |
|
Laryngomalacia, Tracheomalacia, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Overfolded helix, Retrognathia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnor... |
ORPHA:2631 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Recurrent viral i... |
ORPHA:443811 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Fusariosis |
|
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... |
ORPHA:228119 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Chronic bronchitis, Short stature, Malar flattening, Micrognathia, ... |
OMIM:242860 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, I... |
ORPHA:36234 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, Knee flexion contractur... |
OMIM:616531 |
Lethal Congenital Contracture Syndrome 11 |
|
Retrognathia, Pulmonary hypoplasia |
OMIM:617194 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... |
OMIM:618449 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... |
OMIM:613500 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Intrauterine growth retardation, Failure to thrive, Hypoxemia, Micrognathia, Tachy... |
ORPHA:2257 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Wheezing, Recurrent sinusitis, Recurren... |
OMIM:615707 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Abnormal pinna morphology, Hirsutism, Neutropenia, Anemia, Sepsis, Recurrent b... |
OMIM:617475 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Recurrent bacterial infection... |
OMIM:607594 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Eos... |
ORPHA:183 |
Granulomatosis With Polyangiitis |
|
Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Hemosiderin-laden macrophages in... |
OMIM:608710 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Protruding ear, Flexion contracture, Retrognathia, Micrognathia, Camptodactyly, ... |
OMIM:617468 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Failure to thrive, Pulmonary hypoplasia |
OMIM:614096 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... |
OMIM:619436 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... |
ORPHA:70592 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... |
ORPHA:169105 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent sinusitis, Decreased proportion of class-switched memor... |
OMIM:613493 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Rheumatic Fever |
|
Sinusitis, Respiratory insufficiency, Endocarditis, Abnormal pleura morphology, Myocarditis, Arth... |
ORPHA:3099 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Growth delay, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Ec... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... |
OMIM:618699 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Neonatal respirato... |
OMIM:616867 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Inflammatory abnormality of the skin, Recurrent fungal infections, Failure to ... |
OMIM:102700 |
Immunodeficiency 15A |
|
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... |
OMIM:618204 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Disproportionate short-limb short stature, Malar flattening, Micrognathia, Neonatal death, Pulmon... |
OMIM:224410 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Short stature, Splenomegaly, Abnormal pulmonary interstitial morphology, ... |
OMIM:607616 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cough, Whee... |
OMIM:613490 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... |
OMIM:614372 |
Atelosteogenesis, Type Ii |
|
Malar flattening, Micrognathia, Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth |
OMIM:256050 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Hearing impairment, Pulmonary hypoplasia, Short stature |
ORPHA:93296 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:608647 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Lymphopenia, Cellulitis, Otitis media, Recurrent upper respiratory tract ... |
ORPHA:51636 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Infertility, Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615451 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Alopecia, Splenomegaly, Recurrent bacterial infec... |
OMIM:603554 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Chronic Granulomatous Disease |
|
Sinusitis, Chronic pulmonary obstruction, Otitis media, Splenomegaly, Eczema, Sepsis, Abnormality... |
ORPHA:379 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... |
OMIM:193670 |
Minicore Myopathy With External Ophthalmoplegia |
|
Respiratory insufficiency, Pulmonary hypoplasia, Increased connective tissue, Recurrent respirato... |
OMIM:255320 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent sinusitis... |
OMIM:300853 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchit... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Failure to thrive, Recurrent bacterial skin infections, Decreased proportion of naive T cells, Ch... |
ORPHA:276 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... |
OMIM:613860 |
Hypocomplementemic Urticarial Vasculitis |
|
Sensorineural hearing impairment, Airway obstruction, Skin rash, Splenomegaly, Recurrent bacteria... |
ORPHA:36412 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Rhinitis, Recurrent infection of the gastrointestinal tract, Cellulitis, Recurrent... |
ORPHA:486 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Alopecia, Atrophic gastritis, Thrombocy... |
OMIM:616576 |
Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Respiratory insufficiency, Hearing impairment, Pulmona... |
ORPHA:2655 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
Choanal Atresia |
|
Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sin... |
ORPHA:137914 |
Cleft Lip With Or Without Cleft Palate |
|
Hearing impairment, Chronic sinusitis, Recurrent otitis media |
ORPHA:1991 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Sepsis, Severe periodontitis, Pneumonia, BCGosis, Intrauterine growth retardation, ... |
ORPHA:2968 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Chronic... |
ORPHA:583 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... |
ORPHA:217390 |
Hypophosphatasia |
|
Short stature, Respiratory insufficiency, Emphysema, Anemia, Failure to thrive in infancy |
ORPHA:436 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia |
ORPHA:2140 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Shwachman-Diamond Syndrome |
|
Eczema, Sepsis, Aplastic anemia, Delayed eruption of teeth, Macrocytic anemia, Carious teeth, Pne... |
ORPHA:811 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent... |
OMIM:614379 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... |
ORPHA:169090 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertens... |
OMIM:612387 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:274210 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent infection of the gastrointestinal tract, Otitis... |
OMIM:251260 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Micrognathia, Respiratory insufficiency, Anemia, Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Riddle Syndrome |
|
Otitis media, Short stature, Recurrent viral infections, Abnormal pulmonary interstitial morpholo... |
ORPHA:420741 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Sepsis, Blepharitis, Recurrent intrapulmonary hemorrhage, Inflam... |
ORPHA:906 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Intrauterine growth retardation, Micrognathia, Respiratory insuffici... |
ORPHA:994 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Asthma, Failure to thrive, Recurrent bronchopulmo... |
OMIM:219700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyo... |
OMIM:242700 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Pulmon... |
OMIM:184260 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... |
ORPHA:2552 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Low-frequency sensorineural hearing impairment, Hemophagocytosis, Splenomegaly, Recurren... |
OMIM:613101 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Conductive hearing impairment, Tracheomalacia, Micrognathia, Hypoplasia of ... |
OMIM:202650 |
Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Apnea, Sinusitis, Generalized hirsutism, Low anterior hairline,... |
ORPHA:579 |
Hydrocephalus With Associated Malformations |
|
Intrauterine growth retardation, Micrognathia, Pulmonary hypoplasia, Omphalocele |
OMIM:236640 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... |
OMIM:606367 |
Granulomatosis With Polyangiitis |
|
Pancreatitis, Otitis media, Increased inflammatory response, Weight loss, Pericarditis, Inflammat... |
ORPHA:900 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Contractures of the large joints, Pulmonary hypoplasia, Respiratory infections in early ... |
ORPHA:96179 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Cellul... |
OMIM:618986 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Multiple lipomas, Emphysema |
ORPHA:122 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Malar flattening, Short stature, Micrognathia, Pulmonary hypopla... |
OMIM:300978 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Recurrent sinusitis, Cigarette-paper scars, Hernia, Atrophic scars |
OMIM:130010 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Omphalocele, Low-set ears, Respiratory failure |
OMIM:617895 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Microtia, Splenomegaly, Anemia, Hepatosplenom... |
OMIM:608013 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, Eczema, Decre... |
OMIM:600903 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Keutel Syndrome |
|
Airway obstruction, Peripheral pulmonary artery stenosis, Sinusitis, Recurrent otitis media, Mala... |
OMIM:245150 |
Immunodeficiency 36 |
|
Lymphopenia, Short stature, Splenomegaly, Recurrent upper respiratory tract infections, Recurrent... |
OMIM:616005 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Low-... |
OMIM:236500 |
Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Micrognathia, Pulmonary hypoplasia, Pericallosal lipoma,... |
ORPHA:3309 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Persistence of primary teeth, Skin rash, Eosi... |
OMIM:147060 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Large fleshy ears, Congenital diaphragmatic hernia, Flexion contracture, Frontotemporal hypertric... |
OMIM:263210 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Increased connective tissue, Pulmonary hypoplasia, Arthrogryposis multiplex ... |
ORPHA:171430 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Cleidocranial Dysplasia |
|
Abnormal dental enamel morphology, Sleep apnea, Sinusitis, Supernumerary tooth, Short stature, Mi... |
ORPHA:1452 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Lymphopenia, Skin rash, Flexion contracture, Splenomegaly, Myositis... |
OMIM:617591 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita |
OMIM:601809 |
Kagami-Ogata Syndrome |
|
Laryngomalacia, Flexion contracture, Microtia, Inguinal hernia, Splenomegaly, Retrognathia, Micro... |
OMIM:608149 |
Alg3-Cdg |
|
Abnormal pinna morphology, Lipodystrophy, Pulmonary hypoplasia, Recurrent infections, Arthrogrypo... |
ORPHA:79321 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Omphalocele, Low-set ears |
OMIM:601163 |
Laryngotracheoesophageal Cleft |
|
Laryngomalacia, Laryngeal cleft, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Strid... |
ORPHA:2004 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Crackles, Aplastic anemia, Reticular pattern on pulmonary HRCT, Myeloid leukemia, Decreas... |
OMIM:614742 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... |
OMIM:209920 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... |
OMIM:612541 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Eosinophilia, Abnormal lung morphology, Dyspne... |
ORPHA:449427 |
Tularemia |
|
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytosis, Abnormal nas... |
ORPHA:3392 |
Diaphanospondylodysostosis |
|
Respiratory distress, Inguinal hernia, Tracheomalacia, Micrognathia, Respiratory insufficiency, D... |
OMIM:608022 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Lymphopenia, Short stature, Hypoplasia of the thymus, T lymphocytop... |
OMIM:208900 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulm... |
ORPHA:2847 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Large fleshy ears, Intrauterine growth retardation, Flexion contracture, Small for gestational ag... |
OMIM:616897 |
Thanatophoric Dysplasia, Type I |
|
Disproportionate short-limb short stature, Neonatal death, Pulmonary hypoplasia, Lethal short-lim... |
OMIM:187600 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure, Chronic tubulointerstitial ... |
OMIM:602088 |
Netherton Syndrome |
|
Sparse scalp hair, Asthma, Skin rash, Sparse eyebrow, Sparse eyelashes, Short stature, Eczema, Tr... |
ORPHA:634 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Laryngomalacia, Inguinal hernia, Tracheomalacia, Retrognathia, Micrognathia, Malar flattening, Pu... |
OMIM:613177 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Zygomycosis |
|
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Unusu... |
ORPHA:73263 |
Common Variable Immunodeficiency |
|
Lymphopenia, Posterior pharyngeal cleft, Otitis media, Splenomegaly, Autoimmune thrombocytopenia,... |
ORPHA:1572 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Hip contracture, Apnea, Short stature, Micrognathia, Delayed eruption of teeth... |
ORPHA:85201 |
Immunodeficiency 23 |
|
Sensorineural hearing impairment, Asthma, Conductive hearing impairment, Failure to thrive, Lymph... |
OMIM:615816 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Micrognathia, Inflammation of the large intestine, Pulmonary hypoplasia, Knee flexio... |
OMIM:619708 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Emphysema |
ORPHA:60 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Increased proportion autoreactive unresponsive CD21-/low B cells, Splenomegaly, Recurre... |
OMIM:615559 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Pulmonary hypoplasia, Low-set, posteriorly rotated ears, Short stature |
ORPHA:1486 |
Tracheal Agenesis |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Pulmonary hypoplasia |
OMIM:241800 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Hypergonadotropic hypogonadism, Hyposegmentation ... |
ORPHA:250999 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia |
OMIM:242870 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... |
ORPHA:125 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:267430 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Chronic oral candidiasis, Splenomegaly, Chronic hepatitis, Sepsis, Sclerosing ... |
OMIM:308230 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:253310 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Thrombocytosis, Abnormal b... |
OMIM:209950 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Short stature, Emphysema |
OMIM:210050 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, N... |
OMIM:616740 |
Fragile X Syndrome |
|
Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Mandibular prognathia |
ORPHA:908 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Growth delay, Episodic respiratory distress, Chronic... |
ORPHA:1199 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Pulmonary hypoplasia, Synophrys, Low-set ears, Highly arched eyebrow |
OMIM:618316 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Inguinal hernia, Short stature, M... |
OMIM:601186 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Colitis, Splenomegaly, Chronic lung ... |
OMIM:614700 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respi... |
OMIM:619632 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Dental malocclusion, Respiratory insufficiency, Distal arthrogryposis, Pulmonary hypoplasia, Resp... |
OMIM:618975 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Recurrent bacterial infections, Autoimmune thrombocytopenia, Recurrent respir... |
OMIM:613496 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... |
ORPHA:90060 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinu... |
OMIM:601495 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Anemia, Sepsis, Leukopenia, Chronic otitis media, Abnormality of ne... |
ORPHA:33355 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hirsutism, Severe short stature, Flexion contracture, Micrognathia, Respiratory insufficiency, Pu... |
ORPHA:1865 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex congenita,... |
OMIM:616866 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Meningitis, Absent circulating B cells, Recurrent respiratory infections, Tr... |
OMIM:619707 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Male infertility, Chronic sinusitis, Recurrent otitis media, Decreased nasal nitric oxide |
OMIM:619607 |
Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Fair hair, Neutropenia... |
OMIM:608233 |
Cernunnos-Xlf Deficiency |
|
Growth delay, Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, ... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Recurrent bacterial infections, Hep... |
OMIM:607624 |
Gaucher Disease, Type Ii |
|
Apnea, Failure to thrive, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia,... |
OMIM:230900 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Low-set ears, Conductive hearing impairment, Failure to thrive, Inguinal hernia, Short stature, M... |
ORPHA:2990 |
Jeune Syndrome |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Short stature |
ORPHA:474 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Brain abscess, Cough, Decreased DLCO, Pneumonia, Restric... |
OMIM:610910 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Short stature, Hypergonadotropic hypogonadism, Aspiration pne... |
OMIM:617053 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Septic arthritis, Prostatitis, Py... |
OMIM:300755 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections, Growth delay |
OMIM:615468 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601160 |
Multiple Pterygium Syndrome, X-Linked |
|
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... |
OMIM:312150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Abnormal pinna morphology, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Matthew-Wood Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Abnormal spleen morphology, Pulmonary hypopla... |
ORPHA:2470 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Recurrent upper and lower respiratory tract infections, Recurrent fungal infec... |
ORPHA:331206 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Anemia, Pulmonary hemorrhage, Hepatosplenomegaly, Cough, Thrombocytope... |
ORPHA:79124 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Micrognathia, Camptodactyly, Pulmonary hypoplasia... |
OMIM:248700 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Meier-Gorlin Syndrome 4 |
|
Failure to thrive, Microtia, Short stature, Micrognathia, Birth length less than 3rd percentile, ... |
OMIM:613804 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal paranasal sinus morphology, Rhizomelic leg shortening, Advanced pneumatization of crania... |
ORPHA:306741 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Micrognathia, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... |
OMIM:253290 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Candida esophagitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large ... |
OMIM:619281 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... |
OMIM:619824 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Sinusitis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Eczema, ... |
ORPHA:238468 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Apnea, Failure to thrive, Thick eyebrow, Extramedullary hematopoie... |
ORPHA:2886 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Micrognathia, Pulmonary hypoplasia, Omphalocele, Intrauterine growth retardation |
ORPHA:3035 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Hypoxemia, Transuda... |
ORPHA:284227 |
Nocardiosis |
|
Respiratory distress, Keratitis, Unusual CNS infection, Lymphadenitis, Sepsis, Pneumonia, Pericar... |
ORPHA:31204 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pustule, Increased red blood cell count, Infectious encephalit... |
ORPHA:68 |
Platyspondylic Dysplasia, Torrance Type |
|
Disproportionate short-limb short stature, Low-set ears, Pulmonary hypoplasia, Malar flattening |
ORPHA:85166 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Anemia, Respiratory insufficiency, Rhizomelia, Hernia, Severe short-limb dwarf... |
ORPHA:1842 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ce... |
OMIM:306400 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... |
ORPHA:185 |
Complement Factor I Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... |
OMIM:610984 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Lymphopenia, Pustule, Skin rash, Sparse hair, Leukopenia, Myositis, Tachypnea,... |
OMIM:615934 |
Prolidase Deficiency |
|
Asthma, Failure to thrive, Facial hirsutism, Splenomegaly, Micrognathia, Eczema, Chronic lung dis... |
OMIM:170100 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature |
ORPHA:2204 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Pulmonary hypoplasia, Asplenia |
OMIM:615415 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Sparse hair, Malar flattening, Short stature, Micrognathia, Respiratory insufficiency, Cam... |
OMIM:601559 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia, Low-set ears, Primary amenorrhea, Pulmonary hypoplasia |
OMIM:191830 |
Distal Tetrasomy 15Q |
|
Sensorineural hearing impairment, Abnormal helix morphology, Flexion contracture, Microtia, Retro... |
ORPHA:314588 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Interstitial pneumoni... |
ORPHA:449395 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Microretrognathia, Respiratory insufficiency, Rhizomelia, Pulmonary hyp... |
OMIM:616300 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Abnormal pinna morphology, Micrognathia, N... |
OMIM:266910 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Failure to thrive, Intraalveolar phospholipid acc... |
OMIM:300770 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Short stature, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Intrauterine g... |
ORPHA:2725 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... |
OMIM:233710 |
Meckel Syndrome 14 |
|
Microretrognathia, Retrognathia, Micrognathia, Cardiorespiratory arrest, Pulmonary hypoplasia, Pn... |
OMIM:619879 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Onychomycosis, Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent sin... |
OMIM:615577 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Keutel Syndrome |
|
Alopecia, Short stature, Recurrent sinusitis, Hearing impairment, Recurrent otitis media, Pulmona... |
ORPHA:85202 |
Serkal Syndrome |
|
Growth delay, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, Ce... |
OMIM:233690 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO, Emphysema |
OMIM:618913 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Chronic otitis media, Chronic sinusitis, Decreased nasal nitr... |
OMIM:619608 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Sensorineural hearing impairment, Low-set ears, Failure to thrive, Abnormal helix morphology, Mal... |
OMIM:214100 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Failure to thrive, Desquamative interstitial pneumonitis, ... |
OMIM:265120 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Protruding ear, Hypertrichosis, Chronic oral candidiasis, Recurrent fungal infections, Abnormal T... |
ORPHA:221139 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Sensorineural hearing impairment, Peritonitis, Elevated pulmonary artery pressure, Respiratory fa... |
OMIM:619351 |
Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, Hypoplasia of the thymus, Pulmonary hypoplasia, Omphalocele, Intrauterine growth re... |
OMIM:617022 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Micrognathia, Camptodactyly of finger, Abnormal pleura morphology, L... |
ORPHA:2570 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Orchitis, Pancreatitis, Eosinophilia, Neoplasm of the lung, Ch... |
ORPHA:449563 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Sparse eyebrow, Microtia, Supernumerary nipple, Short stature, P... |
OMIM:612530 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis, Recurrent ba... |
OMIM:612840 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombo... |
OMIM:603585 |
Teebi Hypertelorism Syndrome 1 |
|
Short stature, Micrognathia, Pulmonary hypoplasia, Widow's peak, Omphalocele, Natal tooth, Highly... |
OMIM:145420 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
Congenital Hypothyroidism |
|
Sinusitis, Abnormal hair morphology, Short stature, Umbilical hernia, Abnormality of reproductive... |
ORPHA:442 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Anemia, Eczema, Leukopenia, Rhizomelia, Low-set ears, Thrombocytopenia, Recurrent ... |
OMIM:618116 |
Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Abnormal pinna morphology, Inguinal hernia, Splenomegaly, Respir... |
OMIM:269860 |
Czeizel-Losonci Syndrome |
|
Prominent antitragus, Micrognathia, Low-set, posteriorly rotated ears, Aplasia of the left hemidi... |
ORPHA:2437 |
Achondrogenesis |
|
Severe short stature, Inguinal hernia, Micrognathia, Umbilical hernia, Aplasia/Hypoplasia of the ... |
ORPHA:932 |
Joubert Syndrome 21 |
|
Dyspnea, Apnea, Sensorineural hearing impairment, Pulmonary hypoplasia |
OMIM:615636 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Conductive hearing impairment, Multiple joint contractures, Dental malocclusion, Congenital diaph... |
OMIM:265000 |
Omenn Syndrome |
|
Failure to thrive, Leukocytosis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Splenomegaly, Sepsi... |
ORPHA:39041 |
Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Hearing impairment, Short stature |
ORPHA:93274 |
Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... |
ORPHA:167 |
Achondrogenesis Type 1B |
|
Severe short stature, Micrognathia, Femoral hernia, Umbilical hernia, Aplasia/Hypoplasia of the l... |
ORPHA:93298 |
Absence Of The Pulmonary Artery |
|
Growth delay, Pulmonary edema, Nonproductive cough, Orthopnea, Pulmonary hypoplasia, Recurrent pn... |
ORPHA:980 |
Atelosteogenesis Type Ii |
|
Micrognathia, Rhizomelic arm shortening, Camptodactyly, Tracheobronchomalacia, Rhizomelia, Laryng... |
ORPHA:56304 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Malar flattening, Short stature, Microtia, Micrognathia, Aplasia/H... |
ORPHA:2145 |
Poikiloderma With Neutropenia |
|
Blepharitis, Neutropenia, Recurrent bronchopulmonary infections, Skin rash, Sparse eyebrow, Short... |
OMIM:604173 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short stature, Small for gestational age, Micrognathia, Delayed eruption of teeth, Advanced erupt... |
OMIM:619148 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Low-set, posteriorly rotated ears, Abnormal lung l... |
ORPHA:958 |
Aphalangy With Hemivertebrae |
|
Pulmonary hypoplasia |
OMIM:207620 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... |
ORPHA:727 |
Ogden Syndrome |
|
Apnea, Sparse eyebrow, Eczema, Long eyelashes, Pulmonary hypoplasia, Umbilical hernia, Intrauteri... |
OMIM:300855 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Micrognathia, Rhizomelia, Pulmonary hypoplasia, Laryngotrache... |
ORPHA:1190 |
Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Low-set ears, Micrognathia, Pulmonary hypoplasia |
OMIM:251230 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Acute Promyelocytic Leukemia |
|
Neutropenia, Leukocytosis, Metrorrhagia, Anemia, Leukopenia, Thrombocytopenia, Pancytopenia, Stom... |
ORPHA:520 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Stomatitis, Decreased proportion of CD4-po... |
OMIM:613011 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Skin rash, Recurrent bacterial infections, B lymphocytopenia, Lipodystrophy, I... |
OMIM:618048 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Short stature, Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respiratory ... |
OMIM:208500 |
Raine Syndrome |
|
Abnormal pinna morphology, Protruding ear, Malar flattening, Short stature, Micrognathia, Mixed h... |
OMIM:259775 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arte... |
ORPHA:99050 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Short stature, Splenomegaly, Thrombocytopenia, Menin... |
OMIM:616050 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Micrognathia, Aplasia of the left hemidiaphragm, Pulmonary artery hypoplasia, Pulmonary hypoplasi... |
OMIM:620025 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Dentinogenesis imperfecta, Tracheomalacia, Mic... |
ORPHA:536467 |
Achondrogenesis Type 1A |
|
Severe short stature, Micrognathia, Femoral hernia, Umbilical hernia, Aplasia/Hypoplasia of the l... |
ORPHA:93299 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Anomalous pulmonary venous return, Abnormal helix morphology, Congenital diaphragmatic hernia, Re... |
ORPHA:1120 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Short stature, Aplasia/Hypoplasia of the eyebrow, Pulmonary hypoplasia, Fine hair |
OMIM:614091 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Autosomal Recessive Polycystic Kidney Disease |
|
Splenomegaly, Micrognathia, Hepatosplenomegaly, Recurrent urinary tract infections, Thrombocytope... |
ORPHA:731 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis |
OMIM:149700 |
Whipple Disease |
|
Splenomegaly, Anemia, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Cough, Arthriti... |
ORPHA:3452 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Failure to thrive, Inguinal hernia, Retrognathia, Contracture of the distal... |
ORPHA:83617 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Alopecia, Recurrent upper respiratory tract infections, Sepsis, Severe B lymph... |
ORPHA:293978 |
Alg9-Cdg |
|
Large fleshy ears, Asthma, Hypertrichosis, Hypoplasia of the ovary, Microretrognathia, Micrognath... |
ORPHA:79328 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infections, Congenital agranulocytosi... |
OMIM:202700 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Atypical scarring of skin, Abnormal lung morphology, K... |
ORPHA:182 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Severe viral infection, Increased inflammatory res... |
ORPHA:48435 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
ORPHA:86822 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Flexion contracture, Retrognathia, Micrognathia, Hypogonadism, A... |
ORPHA:2671 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Vici Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Growth delay, Recurrent fungal infections, M... |
OMIM:242840 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Abnormal pinna morphology, Malar flattening, Micrognathia, Camptodactyly of fi... |
ORPHA:90652 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Coarse hair, Pulmonary hypopl... |
OMIM:612289 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Low-set, posteriorly rotated ears, Camptod... |
ORPHA:2635 |
Boomerang Dysplasia |
|
Severe short-limb dwarfism, Aplasia/Hypoplasia of the lungs, Omphalocele |
ORPHA:1263 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia, Small for gestational age, Pulmonary venous occlusion, Micrognat... |
ORPHA:2260 |
Meier-Gorlin Syndrome 7 |
|
Decreased body weight, Microtia, Short stature, Thin eyebrow, Pulmonary hypoplasia, Growth delay,... |
OMIM:617063 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Microretrognathia, Congenital diaphragmatic hernia, Camptodactyly of f... |
ORPHA:1692 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis |
OMIM:613960 |
Q Fever |
|
Respiratory distress, Unusual infection, Osteomyelitis, Splenomegaly, Anemia, Maculopapular exant... |
ORPHA:781 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Abnormal p... |
OMIM:615486 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hy... |
OMIM:611812 |
Immunodeficiency 70 |
|
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pulmonary hypoplasia, Neonatal death, Splenomegaly |
OMIM:263200 |
Meier-Gorlin Syndrome 6 |
|
Laryngomalacia, Conductive hearing impairment, Failure to thrive, Severe short stature, Microretr... |
OMIM:616835 |
Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Growth delay, Recurrent fungal infections, Lymphopenia, Small for ge... |
OMIM:619573 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Decreased body weight, Flexion contracture, Respiratory insufficiency, Myositis, Increased connec... |
ORPHA:258 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Leukocytosis, Sepsis, Leukopenia, Myocarditis, Abnormal macropha... |
ORPHA:292 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Leukocytosis, Anemia, Pleural empyema, Constrictive pericarditis, Cough, Pleural e... |
ORPHA:67 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Large fleshy ears, Congenital diaphragmatic hernia, Overfolded helix, Micrognathia, Cupped ear, L... |
OMIM:614080 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal helix morphology, Infantile sensorineural hearing impairment, Stre... |
ORPHA:798 |
Gaucher Disease, Type I |
|
Splenomegaly, Abnormal pulmonary interstitial morphology, Thrombocytopenia, Pancytopenia, Dyspnea... |
OMIM:230800 |
Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Pulmonary hypoplasia, Omphalocele, Extrapulmonary sequestrum, Low-set ... |
OMIM:200995 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Inflam... |
OMIM:181000 |
Greenberg Dysplasia |
|
Laryngeal calcification, Disproportionate short-limb short stature, Retrognathia, Micrognathia, H... |
OMIM:215140 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Multiple joint contractures, Flexion contracture, Inguinal hernia, Short statu... |
ORPHA:536471 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Recurrent bacterial infections, ... |
OMIM:610738 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom... |
OMIM:608978 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphysema, Recurrent respirat... |
OMIM:219100 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Autosomal Recessive Amelia |
|
Micrognathia, Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Azoospermia, Male infertility |
ORPHA:94064 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Mild intrauterine growth retardation, Flexion contracture, Alopecia, Short stature, Micrognathia,... |
OMIM:308050 |
Tetraploidy |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Hypoplasia of the... |
ORPHA:3305 |
Achondrogenesis, Type Ia |
|
Stillbirth, Low-set ears, Pulmonary hypoplasia, Disproportionate short-trunk short stature |
OMIM:200600 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Large earlobe, Infertility, Megaloblastic anemia, Gastritis, Recurrent bronchopulmonary infection... |
OMIM:219721 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Inguinal hernia, Respiratory insufficiency, Recurrent urina... |
ORPHA:90349 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Exertion... |
OMIM:133100 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Orofaciodigital Syndrome Type 4 |
|
Laryngomalacia, Conductive hearing impairment, Intrauterine growth retardation, Failure to thrive... |
ORPHA:2753 |
Prune Belly Syndrome |
|
Failure to thrive, Recurrent urinary tract infections, Aplasia/Hypoplasia of the lungs, Recurrent... |
ORPHA:2970 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Pancreatitis, Anemia, Sepsis, Abnormal pleura morphology, Cough, Abnormality of neut... |
ORPHA:36426 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Pulmonary hypoplasia, Short stature |
OMIM:615503 |
Mosaic Trisomy 16 |
|
Small for gestational age, Craniofacial asymmetry, Pulmonary hypoplasia, Abnormal lung morphology... |
ORPHA:1708 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Abnormal lung lobation, Multiple ... |
ORPHA:2063 |
Fryns Syndrome |
|
Abnormal helix morphology, Chylothorax, Joint contracture of the hand, Facial hirsutism, Microret... |
OMIM:229850 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Low-set, posteriorly rotated ears, Pulmonary hypop... |
ORPHA:2059 |
Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Recurrent gastroenteritis, Neutrophilia, Severe periodontitis, Long eyelashes, Umbilic... |
ORPHA:99843 |
Osteogenesis Imperfecta |
|
Progressive hearing impairment, Delayed eruption of teeth, Carious teeth, Rhizomelia, Pulmonary h... |
ORPHA:666 |
Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Hearing impairment, Lethal short-limb... |
ORPHA:1860 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Sparse hair, Alopecia, Anemia, Interstitial pneumonitis, Aplastic anemia, Carious te... |
OMIM:127550 |
Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous pulmonary venous return, Recurrent bacterial infections, Pneumonia, Exertional dyspnea,... |
ORPHA:99104 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Pancreatitis, Sparse hair, Hemophagocytosis, Short stature, Splenomegaly, Resp... |
OMIM:222700 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Retrognathia, Micrognathia, Anotia, Femoral hernia, Pulmonary hypoplasia, Microt... |
ORPHA:3412 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Large for gestational age, Pulmonary hypoplasia, Hypoplasia of the ... |
ORPHA:96334 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Weight loss, Abnormal lung morphology, Anemia |
ORPHA:54251 |
Lethal Congenital Contracture Syndrome 9 |
|
Micrognathia, Pulmonary hypoplasia, Low-set ears, Congenital contracture, Intrauterine growth ret... |
OMIM:616503 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Short stature, Narrow maxilla, Osteoarthritis, Recurrent lower respiratory tract... |
OMIM:130000 |
Pentalogy Of Cantrell |
|
Polysplenia, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1335 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Abnormal epiglottis morphology, Flexion contracture, Nod... |
ORPHA:333 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Inguinal hernia |
OMIM:261550 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Microtia, Micrognathia, Laryngeal hypoplasia, Neonatal death, Pulmonar... |
OMIM:617925 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... |
OMIM:214500 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Malar flattening, Micrognathia, Rhizomelia, Pulmonary hypoplas... |
ORPHA:50945 |
Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Scarring, Weight loss, Ab... |
ORPHA:797 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Pancreatitis, Hemophagocytosis, Respiratory insufficiency, Recurrent bacterial... |
ORPHA:470 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Recurrent bacterial infections, Orthopnea, Breathing dysregulation, Pneumonia... |
ORPHA:99103 |
Verloove Vanhorick-Brubakk Syndrome |
|
Microtia, Micrognathia, Atresia of the external auditory canal, Low-set ears, Aplasia/Hypoplasia ... |
ORPHA:3429 |
Tetrasomy 9P |
|
Infertility, Intrauterine growth retardation, Micrognathia, Oligospermia, Recurrent urinary tract... |
ORPHA:3310 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Short stature, Lipodystrophy, Recurrent infections, Aspiration, Neonatal respi... |
OMIM:618922 |
Smith-Lemli-Opitz Syndrome |
|
Sensorineural hearing impairment, Supernumerary tooth, Congenital diaphragmatic hernia, Short sta... |
ORPHA:818 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Truncus Arteriosus |
|
Pulmonary edema, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from ascendin... |
ORPHA:3384 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Eosinophilic infiltration of the esophagus, Retrognathia, Emphysema, Pneumothorax |
OMIM:614816 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Peripheral pulmonary artery stenosis, Inguinal hernia, Emphysema, Bronchiectasi... |
OMIM:123700 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... |
OMIM:612783 |
Lymphatic Malformation 7 |
|
Respiratory distress, Anemia, Pulmonary edema |
OMIM:617300 |