Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... |
OMIM:612650 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Chroni... |
OMIM:620356 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... |
OMIM:610852 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 10 |
|
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... |
OMIM:612518 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... |
OMIM:616037 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n... |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Conductive hearing impairment, Abnormal sperm motility, Male infe... |
ORPHA:244 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, A... |
OMIM:244400 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Recurrent infections, Ciliary dyskinesia, Abnormal respiratory... |
OMIM:225050 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Sepsis, Conjunctivitis, Neutropenia, Chronic otitis media, M... |
ORPHA:47 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurre... |
ORPHA:33110 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner... |
OMIM:614935 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:616022 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... |
OMIM:618300 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... |
OMIM:301082 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opportunistic infec... |
ORPHA:277 |
Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Cyclic Neutropenia |
|
Pharyngitis, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infectio... |
ORPHA:2686 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... |
OMIM:615872 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... |
OMIM:612692 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... |
OMIM:617194 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... |
OMIM:616733 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines... |
OMIM:616726 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Neonatal death, Pulmonary arterial hypertens... |
OMIM:619003 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pn... |
OMIM:613179 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Granulomatosis With Polyangiitis |
|
Subglottic stenosis, Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p... |
OMIM:608710 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Yellow nails, Dyspnea, Bronchiectasis, Neoplasm of t... |
ORPHA:662 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... |
OMIM:300991 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Neonatal death, Laryngomalacia, Pulmonary hypoplasia, Tracheomalacia |
OMIM:245650 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... |
ORPHA:183675 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Anemia, Arthritis, Recurrent... |
OMIM:620321 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hyp... |
ORPHA:2631 |
Whim Syndrome |
|
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis... |
ORPHA:51636 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Small for gestational ag... |
OMIM:606593 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur... |
OMIM:300310 |
Ciliary Dyskinesia, Primary, 41 |
|
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne... |
ORPHA:2257 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Short stature, Pneumonia, Micrognathia, Bronchiectasis, T lymphocyt... |
OMIM:242860 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi... |
OMIM:616531 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Ankle flexion contracture, Micrognathia, Flexion contracture, Elbow flexion cont... |
OMIM:617468 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Simple ... |
OMIM:617475 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez... |
OMIM:615707 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Pulmonary hypoplasia, Neonatal dea... |
OMIM:615524 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Ar... |
OMIM:616867 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Recurrent intrapulmonary h... |
ORPHA:183 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Ciliary Dyskinesia, Primary, 46 |
|
Hearing impairment, Reduced forced expiratory volume in one second, Reduced forced vital capacity... |
OMIM:619436 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Dyspnea, Thrombocytopeni... |
OMIM:607616 |
Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent pneumonia, Bronchiolitis obliterans o... |
OMIM:615518 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide... |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... |
OMIM:193670 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... |
OMIM:614372 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Increased conn... |
OMIM:255320 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:618204 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Myocarditi... |
ORPHA:3099 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Failure to thrive, Pulmonary hypoplasia |
OMIM:614096 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe ... |
OMIM:102700 |
Achondrogenesis Type 2 |
|
Short stature, Pulmonary hypoplasia, Cardiorespiratory arrest, Hearing impairment |
ORPHA:93296 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Malar flattening |
OMIM:256050 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... |
OMIM:240500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pharyngitis, Recurrent sinopulmonary infections, Acute myeloid leukemia, Recurrent skin infection... |
ORPHA:486 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Nasal polyposis, Sinusitis, R... |
ORPHA:586 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... |
ORPHA:276 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... |
OMIM:613860 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of neutrophils, Meningitis, Sple... |
ORPHA:379 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Respiratory insuffi... |
OMIM:224410 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cry... |
ORPHA:994 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Meningitis, Emphysema, Sensorineural hearing impairment, Spleno... |
ORPHA:36412 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Subglottic stenosis, Upper airway obstruc... |
ORPHA:137914 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Pulmonary hypoplasia |
OMIM:618174 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Disproportionate short-limb short stature, Low-set ears, Pulmonary hyp... |
ORPHA:2655 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Auto... |
OMIM:616576 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia |
ORPHA:2140 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... |
OMIM:614379 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Fine hair, Growth d... |
OMIM:300978 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Micrognathia, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Anemia |
ORPHA:1046 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... |
ORPHA:169090 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Micrognathia, Laryngeal hypoplasia, Conductive hearing impairment, Hypoplas... |
OMIM:202650 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Disproportionate short-tru... |
ORPHA:583 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... |
OMIM:219700 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Delayed eruption of teeth, Short stature,... |
OMIM:184260 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Riddle Syndrome |
|
Short stature, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pn... |
ORPHA:420741 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Premature ovarian insufficiency, Bilateral cryptorchidism, Postnat... |
ORPHA:96179 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, N... |
ORPHA:2552 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Alopecia univer... |
OMIM:606367 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... |
OMIM:613101 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased B cell count, Eczema, Invasive fungal infection, Recurrent mycobacterial infections, In... |
ORPHA:98813 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Short stature, Recurrent viral infections, Cheilitis, Bronc... |
OMIM:615468 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Meningitis, Chronic pulmona... |
ORPHA:900 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenome... |
OMIM:603554 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... |
OMIM:612387 |
Hypophosphatasia |
|
Short stature, Failure to thrive in infancy, Respiratory insufficiency, Emphysema, Anemia |
ORPHA:436 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Inguinal hernia, Sinusitis, Apnea, Short stature, Splenomegaly,... |
ORPHA:579 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hernia, Atrophic scars, Cigarette-paper scars, Recurrent sinusitis |
OMIM:130010 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Mi... |
OMIM:608013 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Frontotempo... |
OMIM:263210 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Micrognath... |
OMIM:601186 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Crypto... |
OMIM:612541 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Posteriorly rotated ... |
ORPHA:3309 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Recurr... |
OMIM:147060 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia |
OMIM:601809 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Low-set ears, Testicular atrophy |
OMIM:601163 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections... |
OMIM:616005 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C... |
ORPHA:2357 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Omphalocele, Respiratory failure, Pulmonary hypoplasia, Low-set ears |
OMIM:617895 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Apnea, Short stature, Micrognathia... |
ORPHA:85201 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Low-... |
ORPHA:171430 |
Nephronophthisis 2 |
|
Respiratory failure, Chronic tubulointerstitial nephritis, Pulmonary hypoplasia, Respiratory insu... |
OMIM:602088 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion cont... |
OMIM:608149 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Laryngomalacia... |
ORPHA:2004 |
Tularemia |
|
Respiratory distress, Pharyngitis, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnorma... |
ORPHA:3392 |
Alg3-Cdg |
|
Lipodystrophy, Abnormal pinna morphology, Recurrent infections, Pulmonary hypoplasia, Arthrogrypo... |
ORPHA:79321 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Autoimmune hemoly... |
OMIM:251260 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Lipodystrophy, Failure to thrive, Thrombocytopenia, Splenomegaly,... |
OMIM:617591 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Small for gestational age, Micrognathia, Flexion contracture, Large fle... |
OMIM:616897 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Recurrent respiratory infections, Underfolded helix, Posteriorly rotated ears, Highl... |
OMIM:618316 |
Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Protruding ear, Otitis media, Macroorchidism, Chronic otitis media |
ORPHA:908 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H... |
ORPHA:250999 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Disproportionate short-limb short stature, Pulmonary hypoplasia, N... |
OMIM:187600 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Anem... |
OMIM:614742 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Sinusitis, Sh... |
ORPHA:1452 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Female hypogonadism, Short stature, Abnormal hair morphology, Bronc... |
OMIM:208900 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... |
ORPHA:2847 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Flexion contracture... |
ORPHA:1865 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Birt-Hogg-Dubé Syndrome |
|
Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Micrognathia, Morgagni di... |
OMIM:613177 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... |
OMIM:620282 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos... |
OMIM:618282 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Dyspnea, Abnormal lung morphology, Lymphadenitis, Nephritis, Pancreatiti... |
ORPHA:449427 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Diaphanospondylodysostosis |
|
Respiratory distress, Inguinal hernia, Micrognathia, Disproportionate short-trunk short stature, ... |
OMIM:608022 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal death, Arthrogryposis... |
OMIM:236500 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of larynx, Recurrent bronchitis, Hearing impairment, Calcif... |
OMIM:245150 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Seps... |
OMIM:308230 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Pulmonary hypoplasia, Micrognathia |
ORPHA:1486 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Pallister-Hall-Like Syndrome |
|
Short stature, Pulmonary hypoplasia, Micrognathia |
OMIM:241800 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... |
OMIM:616740 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Neonatal respiratory distress, Flexion contracture, Pulmonary hypoplasia, Arth... |
OMIM:616866 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Subglottic stenosis, Omphalocele, Small f... |
ORPHA:1199 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Micrognathia, Severe varicella zoster infection, Adipose tissue los... |
ORPHA:125 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia |
OMIM:253310 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... |
OMIM:615559 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism... |
OMIM:617053 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology |
ORPHA:1548 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t... |
OMIM:619708 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Inguinal hernia, Short stature, Camptodactyly of finger, Micrognat... |
ORPHA:2990 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Failure to thrive in infancy, Respiratory tract infection, Dental malocclu... |
OMIM:618975 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Abnormal spleen morpho... |
ORPHA:2470 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eo... |
ORPHA:2314 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal short-... |
OMIM:151210 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Autoimmune ... |
OMIM:613496 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Leu... |
ORPHA:33355 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
Marden-Walker Syndrome |
|
Inguinal hernia, Micrognathia, Postnatal growth retardation, Cryptorchidism, Congenital contractu... |
OMIM:248700 |
Achondroplasia |
|
Respiratory distress, Rhizomelia, Conductive hearing impairment, Upper airway obstruction, Pulmon... |
OMIM:100800 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Melanin p... |
OMIM:607624 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis |
OMIM:619607 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short s... |
ORPHA:634 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, ... |
OMIM:620365 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, A... |
OMIM:269860 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Posteriorly rotated ears, Albinism, Carious teeth, Decreased CD4:... |
OMIM:608233 |
Distal Triplication 15Q |
|
Micrognathia, Large for gestational age, Sensorineural hearing impairment, Cupped ear, Flexion co... |
ORPHA:314588 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Mi... |
ORPHA:2886 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Atelectasis, White hair, Tracheomalacia, Thick eyebrow, Hearing impairment |
ORPHA:896 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency |
ORPHA:474 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... |
OMIM:300755 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... |
OMIM:619707 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Flexion contracture, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... |
OMIM:312150 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Widow's peak, Hydro... |
OMIM:145420 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis |
ORPHA:60 |
Hatipoglu Immunodeficiency Syndrome |
|
Recurrent herpes, Inguinal hernia, Pancytopenia, Eczema, Failure to thrive, Proportionate short s... |
OMIM:620331 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Abnormal pinna morphology, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Neonatal ... |
OMIM:300219 |
Hemidystonia-Hemiatrophy Syndrome |
|
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology, Rhizomelic leg s... |
ORPHA:306741 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... |
ORPHA:79124 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocyto... |
OMIM:618278 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Micrognathia, Splenomegaly, Pulmonary hypoplasia, Intrauterine growth retardation |
ORPHA:3035 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Rhizomelia, Sparse eyebrow, Cryptorchidism, Hypoplas... |
OMIM:616300 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypoplasia of the maxilla, Aplasia/... |
ORPHA:238468 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... |
OMIM:619632 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ... |
ORPHA:536467 |
Multiple Pterygium Syndrome, Lethal Type |
|
Micrognathia, Flexion contracture, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... |
OMIM:253290 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Splenomegaly, Respiratory failure, Pulmonary hy... |
OMIM:615636 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature |
ORPHA:2204 |
Renal Hypodysplasia/Aplasia 1 |
|
Low-set ears, Retrognathia, Pulmonary hypoplasia, Primary amenorrhea |
OMIM:191830 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... |
OMIM:619281 |
Platyspondylic Dysplasia, Torrance Type |
|
Malar flattening, Disproportionate short-limb short stature, Pulmonary hypoplasia, Low-set ears |
ORPHA:85166 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse eyebrow, Cryptorchid... |
OMIM:612530 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Prolidase Deficiency |
|
Eczema, Micrognathia, Thrombocytopenia, Asthma, Recurrent pneumonia, Crusting erythematous dermat... |
OMIM:170100 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Short stature, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy, Elbow f... |
OMIM:601559 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineu... |
OMIM:214100 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Myositis, Increased connective tissu... |
ORPHA:258 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... |
ORPHA:68 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased hematocrit, Abnormality of the pulmonary vasc... |
ORPHA:284227 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Failure to thrive, Pustule, T... |
OMIM:615934 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Micr... |
OMIM:620369 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytop... |
ORPHA:333 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Multiple joint contractures, Inguinal hernia, Short stature, Conge... |
OMIM:265000 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Lo... |
OMIM:619879 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Serkal Syndrome |
|
Growth delay, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia to... |
OMIM:615577 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Growth delay, Recurrent bacterial infections, T lym... |
ORPHA:169079 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Short stature, Small for gestational age, Mi... |
OMIM:619148 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Ogden Syndrome |
|
Apnea, Micrognathia, Protruding ear, Iron deficiency anemia, Aspiration, Intrauterine growth reta... |
OMIM:300855 |
Keutel Syndrome |
|
Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Recurrent s... |
ORPHA:85202 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Micrognathia, Cryptorchidism, Aortopulmonary window, Recurrent inf... |
OMIM:620025 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... |
ORPHA:221139 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombocytopenia, Pulmonary h... |
OMIM:603585 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Peritonitis, Sensorineural hearing impairment... |
OMIM:619351 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Eosinophilia, Orchitis, Keratitis, Abnormal lung morphology, Thyroiditis,... |
ORPHA:449563 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Micrognathia, Aplasia of ... |
ORPHA:2437 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Thrombocytopenia, Leukopenia... |
OMIM:618116 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency, Hearing impairment |
ORPHA:93274 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... |
ORPHA:980 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung l... |
ORPHA:958 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Decreased nasal nitric oxide, Polysplenia, Chronic otitis media, Chronic sinusitis, Reduced progr... |
OMIM:619608 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, Emphysema, Infe... |
ORPHA:31204 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Thyroid... |
ORPHA:39041 |
Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Rhizomelia, Micrognathia, Elbow flexion contracture, Rhizomelic arm shortenin... |
ORPHA:56304 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Atelosteogenesis Type I |
|
Laryngeal stenosis, Rhizomelia, Micrognathia, Laryngotracheal stenosis, Neonatal short-trunk shor... |
ORPHA:1190 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... |
ORPHA:167 |
Achondrogenesis |
|
Inguinal hernia, Severe short stature, Micrognathia, Aplasia/Hypoplasia of the lungs, Umbilical h... |
ORPHA:932 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Achondrogenesis Type 1B |
|
Severe short stature, Femoral hernia, Micrognathia, Disproportionate short stature, Aplasia/Hypop... |
ORPHA:93298 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, S... |
ORPHA:83617 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... |
ORPHA:727 |
Poikiloderma With Neutropenia |
|
Skin rash, Short stature, Micrognathia, Carious teeth, Recurrent bronchopulmonary infections, Spa... |
OMIM:604173 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Micrognathia, Flexion contracture, Cardiorespiratory arrest, Congeni... |
OMIM:616503 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... |
ORPHA:449395 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal antihelix morphology, Micr... |
ORPHA:2145 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Chronic inf... |
ORPHA:520 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Severe short-limb dwarfism, Omphalocele |
ORPHA:1263 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Micrognathia, Hypoplasia of the thymus, Pulmonary hypoplasia, Low-set ears, Intraute... |
OMIM:617022 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Recurre... |
OMIM:618048 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, A... |
ORPHA:2570 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Short stature, Respiratory insufficiency, Pulmonary hypoplasia,... |
OMIM:208500 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Failure to thrive, Aortopulmonary window, Pulmonary hypoplasia,... |
ORPHA:99050 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Posteriorly rotated ears, Abnormal ... |
OMIM:259775 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Laryngeal atresia, Pulmonary hypoplasia |
OMIM:314390 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Conductive he... |
OMIM:612289 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Micrognathia |
ORPHA:1027 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Large for gestational ag... |
OMIM:614080 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Respiratory insufficiency, Anomalous pul... |
ORPHA:1120 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Pulmonary hypoplasia, Low-set ears, Neonatal death, Intrauterine growth retardation |
OMIM:251230 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst... |
OMIM:618165 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Fine hair, Pulmonary hypoplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Achondrogenesis Type 1A |
|
Severe short stature, Femoral hernia, Micrognathia, Aplasia/Hypoplasia of the lungs, Umbilical he... |
ORPHA:93299 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... |
ORPHA:48435 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Recurrent urinary tract infections, Spontaneous pneumothorax, Cholangitis, Micro... |
ORPHA:731 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis |
OMIM:149700 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Alg9-Cdg |
|
Microretrognathia, Low-set, posteriorly rotated ears, Omphalocele, Lipodystrophy, Rhizomelia, Mic... |
ORPHA:79328 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Chromomycosis |
|
Keratitis, Abnormal lung morphology, Atypical scarring of skin, Recurrent bacterial infections, K... |
ORPHA:182 |
Whipple Disease |
|
Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Respiratory insufficiency, Uveitis, ... |
ORPHA:3452 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Intrauterine growth retardation |
ORPHA:86822 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Hypoplastic fronta... |
ORPHA:90652 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormality of the temporomandibular joint,... |
ORPHA:536471 |
Neu-Laxova Syndrome |
|
Micrognathia, Abnormal eyelash morphology, Trismus, Macrotia, Flexion contracture, Abnormal hair ... |
ORPHA:2671 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Necrotizing enterocolitis, Atroph... |
OMIM:619573 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Anemia |
OMIM:603278 |
Mosaic Trisomy 1 |
|
Microretrognathia, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital di... |
ORPHA:1692 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Micrognat... |
ORPHA:2260 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Microtia, third degree, Femoral hernia, Micrognathia, Cryptorchidism, Anotia, Pu... |
ORPHA:3412 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cryptor... |
ORPHA:2063 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Fryns Syndrome |
|
Microretrognathia, Omphalocele, Large for gestational age, Cryptorchidism, Aplasia of the left he... |
OMIM:229850 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Non... |
ORPHA:319213 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Camptodactyly of finger, Low-set, posterio... |
ORPHA:2635 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Failure to thrive, Microtia, third degree, Monorchism, Posterio... |
ORPHA:2753 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchidism, Decreased f... |
ORPHA:2970 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Myoca... |
ORPHA:728 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Abnormal pulmona... |
OMIM:230800 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual in... |
ORPHA:781 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Meier-Gorlin Syndrome 7 |
|
Short stature, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Growth delay... |
OMIM:617063 |
Caudal Regression Syndrome |
|
Cryptorchidism, Pulmonary hypoplasia |
ORPHA:3027 |
Interstitial Lung And Liver Disease |
|
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... |
OMIM:615486 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Greenberg Dysplasia |
|
Laryngeal calcification, Cartilaginous ossification of larynx, Rhizomelia, Micrognathia, Hypoplas... |
OMIM:215140 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Abnormal lung morphology, Weight loss, Abnormal testis morphology, A... |
ORPHA:54251 |
Immunodeficiency 70 |
|
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the epiglottis, Myeloid leukemia, Streak ovary,... |
ORPHA:798 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Cr... |
ORPHA:2059 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Acute lymphoblastic leukemia, Recurrent bacterial infections, N... |
OMIM:610738 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears, Extrapulmonary seques... |
OMIM:200995 |
Emanuel Syndrome |
|
Broad jaw, Recurrent respiratory infections, Recurrent urinary tract infections, Inguinal hernia,... |
OMIM:609029 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... |
ORPHA:292 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Leukocytosis, Weight loss, Anemia, Pleural empyema, Cough, Constrictive pe... |
ORPHA:67 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Severe short stature, Posteriorly rotated ea... |
OMIM:616835 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Gaucher Disease, Type Ii |
|
Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive,... |
OMIM:230900 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Lipodystrophy, Thick hair, Short stature, Carious teeth, Postnatal growth retard... |
ORPHA:357074 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Microtia, Atresia of the external ... |
ORPHA:3429 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Short stature, Micrognathia, Flexion contracture, Mild intrauterine growth retardation,... |
OMIM:308050 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Mosaic Trisomy 16 |
|
Small for gestational age, Abnormal lung morphology, Pulmonary hypoplasia, Intrauterine growth re... |
ORPHA:1708 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... |
OMIM:608978 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Aplasia/... |
ORPHA:2549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Premature graying of hair, L... |
OMIM:127550 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Dyspareunia, Abnormal pleura morphology, Abnormality of neutrop... |
ORPHA:36426 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Achondrogenesis, Type Ia |
|
Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia, Low-set ears |
OMIM:200600 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Distal Deletion 15Q |
|
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Postnata... |
ORPHA:1596 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Hypoplasia of the ear cartilage, Intrauterine growth retardation... |
ORPHA:3305 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... |
OMIM:133100 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Flexio... |
ORPHA:96334 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Short stature, Pulmonary hypoplasia |
OMIM:615503 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Lethal short-limbed short stature, Respiratory insufficiency, He... |
ORPHA:1860 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Short stature, Abnormal dental ename... |
ORPHA:818 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Neonatal respirat... |
ORPHA:666 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Low anterior hairline, Conductive... |
ORPHA:99843 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Short stature, Osteoarthritis, Cigarette-paper scars, Recurrent sinusitis, Umbil... |
OMIM:130000 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Tetrasomy 9P |
|
Myositis, Pericarditis, Recurrent urinary tract infections, Abnormal dental enamel morphology, Mi... |
ORPHA:3310 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Failure to thrive,... |
ORPHA:293978 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Posteriorly rotated ears, Elbow contracture, Camptodactyly of finger, Micrognath... |
OMIM:208150 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Failure to thrive, Recurrent viral in... |
OMIM:242840 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Recurrent infections, Growth delay, Iron deficiency anemia, Thrombocytosis, R... |
OMIM:226300 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Failure to thrive, Abnormal hair morphology, C... |
ORPHA:289 |
Pentalogy Of Cantrell |
|
Omphalocele, Polysplenia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:1335 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Thrombocytopenia, Intraalveolar phospholipid accumulation, Respiratory insuff... |
ORPHA:470 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Dyspnea, Iridocyclitis, Emphysema, Splenomegaly, Bronchiectasis, Abnormal pulmonary... |
OMIM:181000 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Rhizomelia, Micrognathia, Pulmonary hypoplasia, Low-set ears, Malar flattening, Neon... |
ORPHA:50945 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Lysinuric Protein Intolerance |
|
Short stature, Thrombocytopenia, Splenomegaly, Intraalveolar phospholipid accumulation, Respirato... |
OMIM:222700 |
Pagod Syndrome |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Laryngeal hypoplasia, Micrognathia, Low posterior hairlin... |
OMIM:617925 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Sh... |
ORPHA:2962 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Micrognathia, Postnatal growth retardation, Cryp... |
ORPHA:3404 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Neonatal respiratory distress, Lipodystrophy, Short stature, Recurrent infections, Aspiration, Fa... |
OMIM:618922 |
Dpagt1-Cdg |
|
Lipodystrophy, Hearing impairment, Flexion contracture, Pulmonary hypoplasia, Camptodactyly, Fail... |
ORPHA:86309 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnormal pulmonary i... |
ORPHA:77259 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Splenomegaly, Pulmonary hypoplasia |
OMIM:263200 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Thrombocytope... |
ORPHA:537 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Recurrent urinary tract infections, Inguinal hernia, Sho... |
ORPHA:404448 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Thrombocytopen... |
OMIM:612783 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymitis,... |
ORPHA:1304 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... |
OMIM:219100 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Carious teeth, Birth length less than 3rd percentile, Recurrent bact... |
OMIM:244460 |
Erdheim-Chester Disease |
|
Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Dyspnea, Abnormal pulmonary interstitial... |
ORPHA:35687 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Elbow fle... |
OMIM:200980 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recurrent bacterial ... |
OMIM:603903 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss... |
OMIM:300636 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... |
OMIM:607944 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Epistaxis, Dyspnea, Abnormal lung morphology, Thrombocytopenia, Splenomegaly, Hepat... |
ORPHA:464329 |
Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Recurrent upper respiratory tract infections, Panniculitis, Chron... |
OMIM:615758 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Short stature, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the spl... |
ORPHA:1834 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Splenomegaly, Pulmonary hypoplasia, Polysplenia, Neonatal death |
OMIM:208540 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Cryptorchidism, Thrombocytopenia, Leukopenia, Microtia, Conductive hear... |
OMIM:603467 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Eczema, Short stature, Micrognathia, Cryptorchidism,... |
OMIM:270400 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial i... |
OMIM:619693 |
Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp... |
OMIM:263400 |
Icf Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Micrognathia, Low-se... |
ORPHA:2268 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Short stature, Delayed puberty, Anemia, Irreg... |
ORPHA:79259 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Inguinal hernia, Pancytopenia, Short stature, Small for gesta... |
OMIM:613658 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... |
ORPHA:100026 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Low-set ears |
ORPHA:1848 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... |
ORPHA:797 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Natal tooth, Accessory spleen, Camptodactyly of finger, Micrognathia, Asplenia, Cryp... |
OMIM:249000 |
Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Limb joint contracture, Short nail, Micrognathia, Absent eyelashes... |
OMIM:275210 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Absent eyebrow, Abnormal pinna morphology, Absent eyelas... |
OMIM:219000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Growth delay, Recurrent bacterial infections, ... |
OMIM:615895 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hearing impairment, Respiratory tract infection, Atelectasis, Re... |
ORPHA:365 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells |
OMIM:617765 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema, Retrognathia |
OMIM:614816 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Tracheomalacia, Congenital diaphragmatic hernia, Cry... |
OMIM:618280 |
Digeorge Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Acne, Femoral hernia, Short stature, Atelectasis, Chronic... |
OMIM:188400 |
Thoracoabdominal Syndrome |
|
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventral hernia |
OMIM:313850 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... |
OMIM:301000 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Low-set ears |
OMIM:616546 |
Neu-Laxova Syndrome 1 |
|
Micrognathia, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly... |
OMIM:256520 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Lipoatrophy, Small for gestational age, Micrognathia, Flexion cont... |
ORPHA:284979 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Inguinal hernia, Severe short stature, Pneumothorax, Recurren... |
ORPHA:90349 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory t... |
ORPHA:508542 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter... |
OMIM:123700 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... |
ORPHA:79239 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Short stature, Congenital diap... |
OMIM:613309 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Inguinal hernia, Splenomegaly, Sensorineural hearing impairment, Vacuolate... |
OMIM:248500 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Widow... |
OMIM:300000 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Aspiration, Fai... |
OMIM:610768 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Umbilical he... |
OMIM:618651 |
Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Cryptorchidism, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Microtia, ... |
ORPHA:3301 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Micrognathia, Hypoplasia of t... |
OMIM:224690 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Asplenia, Peripheral pulmonary vessel aplasia, Pul... |
OMIM:273395 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hypoplasia of the epiglottis, Pulmonary hypoplasia, Abnormality of the larynx |
OMIM:263520 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Micrognathia, Synophrys, Bilateral camptodactyly, Elbow flexion... |
OMIM:619777 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Micrognathia, Protruding ear, Periodontitis, Chronic otitis media, Low-set... |
ORPHA:534 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal dental enamel morphology... |
ORPHA:2273 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Bifid epiglottis, Micrognathia, Cryptorchidism, Respiratory insufficiency, Pulmonary... |
ORPHA:93271 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... |
OMIM:619381 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Cryptorchidism, Recurrent b... |
OMIM:241410 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Low-set, posteriorly rotated ears, Omphalocele, Abnormal... |
ORPHA:2052 |
Lymphatic Malformation 7 |
|
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema |
OMIM:617300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Laryngeal stenosis, Abnormality of the upper respiratory tract, Recurrent u... |
ORPHA:79404 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... |
OMIM:130050 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Conductive hearing impairment, Ch... |
ORPHA:567 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Pulmonary hypoplasia |
OMIM:271520 |
Hyperekplexia 1 |
|
Aspiration, Inguinal hernia, Umbilical hernia, Apnea |
OMIM:149400 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Abnormal hair morphology, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Short nail, Camptodactyly of finger, Micrognathia, Spar... |
ORPHA:1662 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, ... |
ORPHA:887 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Macrotia, Low-set, posteriorly ... |
ORPHA:2167 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Recurrent infectio... |
OMIM:615688 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... |
OMIM:233450 |
Cleft Larynx, Posterior |
|
Aspiration, Laryngeal stridor |
OMIM:215800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Micrognathia, Postnatal growth retardation, Cryptorchidism, Severe int... |
ORPHA:96182 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... |
ORPHA:77261 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of hair, Conjuncti... |
OMIM:256040 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis... |
ORPHA:171 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration, Abnormal morphology of musculature ... |
ORPHA:600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Otitis media, Conductive hearing impairment, Aspiration, Short stature, Highly arch... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Otitis media, Conductive hearing impairment, Aspiration, Short stature, Highly arch... |
ORPHA:353277 |
Fabry Disease |
|
Short stature, Dyspnea, Sensorineural hearing impairment, Chronic pulmonary obstruction, Respirat... |
ORPHA:324 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Flexion contracture, Corneal scarring, Stridor, Growth dela... |
OMIM:614653 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Alopecia, Pancytopenia, Sparse eyelashes, Short stature, Carious teeth, C... |
OMIM:305000 |
Kikuchi-Fujimoto Disease |
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Alopecia, Skin rash, Pustule, Myocarditis, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... |
ORPHA:50918 |
Pontine Tegmental Cap Dysplasia |
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Aspiration, Sensorineural hearing impairment, Failure to thrive |
OMIM:614688 |
Autosomal Recessive Malignant Osteopetrosis |
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Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Abnormality of hair texture, ... |
ORPHA:667 |
Neuromuscular Oculoauditory Syndrome |
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Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... |
OMIM:618733 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema,... |
ORPHA:363618 |
Tetraamelia Syndrome 2 |
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Microretrognathia, Absent nipple, Micrognathia, Hypoplastic pulmonary veins, Bilateral lung agene... |
OMIM:618021 |
Mckusick-Kaufman Syndrome |
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Cryptorchidism, Pulmonary hypoplasia |
OMIM:236700 |
Holoprosencephaly |
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Omphalocele, Failure to thrive in infancy, Highly arched eyebrow, Congenital diaphragmatic hernia... |
ORPHA:2162 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Sh... |
ORPHA:2834 |
Leukocyte Adhesion Deficiency, Type I |
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Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Pallister-Killian Syndrome |
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Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Apneic episodes in infancy, C... |
OMIM:601803 |
Gaisböck Syndrome |
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Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Obesity, ... |
ORPHA:90041 |
Amyotrophic Lateral Sclerosis 21 |
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Respiratory insufficiency due to muscle weakness, Aspiration, Bowing of the vocal cords |
OMIM:606070 |
Alpha-Mannosidosis, Infantile Form |
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Mandibular prognathia, Recurrent urinary tract infections, Mixed hearing impairment, Pancytopenia... |
ORPHA:309282 |
47,Xyy Syndrome |
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Male infertility, Cryptorchidism, Asthma, Oligozoospermia, Azoospermia, Low-set ears, Macroorchid... |
ORPHA:8 |
Oculopharyngodistal Myopathy 1 |
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Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Cryptorchidism, Knee... |
OMIM:606170 |
Focal Dermal Hypoplasia |
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Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2092 |
Tay-Sachs Disease |
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Aspiration |
OMIM:272800 |
Spermatogenic Failure 2 |
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Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Spinocerebellar Ataxia Type 8 |
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Aspiration, Impotence |
ORPHA:98760 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Inguinal hernia, Micrognathia, Microtia, Abnormality of frontal sinus, Overfolded helix, Wrist fl... |
ORPHA:436003 |
Penile Agenesis |
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Bilateral lung agenesis, Posteriorly rotated ears, Pulmonary hypoplasia, Cryptorchidism |
ORPHA:49 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
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Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Spermatogenic Failure 15 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Noonan Syndrome 1 |
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Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short statu... |
OMIM:163950 |
Developmental And Epileptic Encephalopathy 38 |
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Aspiration |
OMIM:617020 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Splenomegaly, Sensorineural hearing impairment, Recurrent in... |
OMIM:300972 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Corneal scarring, Atypical scarring of skin, Recurrent Staphylococcus a... |
ORPHA:642 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Prominence of the premaxilla, Inguinal hernia, Abnormal pinna morphology, Congenital diaphragmati... |
OMIM:614437 |
Meacham Syndrome |
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Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, Abnormal lung lobatio... |
ORPHA:3097 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
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Aspiration, Flexion contracture |
ORPHA:2148 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Short stature, Micrognathia, Protruding ear, Abnormality of the sphenoid sinus, Abnorm... |
ORPHA:363700 |
Ring Chromosome Y Syndrome |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
Wolf-Hirschhorn Syndrome |
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Low-set, posteriorly rotated ears, Recurrent respiratory infections, Highly arched eyebrow, Micro... |
ORPHA:280 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Pulmonary hypoplasia |
ORPHA:1112 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, ... |
ORPHA:95455 |
Autosomal Dominant Cutis Laxa |
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Inguinal hernia, Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Protruding ear, Lo... |
ORPHA:90348 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Gm2-Gangliosidosis, Ab Variant |
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Aspiration |
OMIM:272750 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility, Recurrent otitis media, Asplenia |
OMIM:618948 |
Infantile Systemic Hyalinosis |
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Severe short stature, Camptodactyly of finger, Growth delay, Recurrent bacterial infections, Fail... |
ORPHA:2176 |
Spermatogenic Failure, X-Linked, 7 |
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Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Spermatogenic Failure 77 |
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Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Mandibular prognathia, Apnea, Micrognathia, Synophrys, Flexion contracture, Knee flexion contract... |
OMIM:619503 |
Marfan Syndrome |
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Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Micrognathia, Abnormal... |
ORPHA:558 |
Glycogen Storage Disease Ib |
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Short stature, Splenomegaly, Delayed puberty, Gout, Recurrent bacterial infections, Inflammation ... |
OMIM:232220 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Small for gestatio... |
OMIM:227650 |
Complement Component 5 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Apnea, Thin eyebrow, Aspiration, Failure to thrive |
ORPHA:2131 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Rett Syndrome, Congenital Variant |
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Aspiration, Protruding ear |
OMIM:613454 |
Bilateral Perisylvian Polymicrogyria |
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Apnea, Micrognathia, Flexion contracture, Distal arthrogryposis, Aspiration, Intrauterine growth ... |
ORPHA:98889 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Tubulointersti... |
ORPHA:85450 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Spermatogenic Failure 6 |
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Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Chand Syndrome |
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Atelectasis, Curly hair, Agenesis of maxillary incisor |
ORPHA:1401 |
Microphthalmia, Syndromic 1 |
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Abnormal pinna morphology, Cryptorchidism, Agenesis of maxillary lateral incisor, Growth delay, P... |
OMIM:309800 |
Marfan Syndrome |
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Reduced subcutaneous adipose tissue, Micrognathia, Incisional hernia, Emphysema, Pneumothorax, Pr... |
OMIM:154700 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Acne, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Spar... |
ORPHA:99429 |
Immunodeficiency 67 |
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Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Conical incisor, Recurrent bacterial infections, Aplasia of the... |
OMIM:300291 |
Craniofacial Microsomia 1 |
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Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Anotia, Microtia, Pulm... |
OMIM:164210 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Spontaneous, recurrent epistaxis, Brain abscess, Pulmonary arteriovenous malformation, Dyspnea, H... |
OMIM:187300 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Abnormal paranasal sinus morphology, Lymphopenia |
OMIM:207731 |
Viss Syndrome |
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Chronic gastritis, Micrognathia, Emphysema, Microretrognathia, Alopecia, Short stature, Low-set e... |
OMIM:619472 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Otitis media, ... |
ORPHA:64 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
17Q11 Microdeletion Syndrome |
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Short stature, Abnormal lung morphology, Abnormality of the sphenoid sinus, Low-set ears, Delayed... |
ORPHA:97685 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Sho... |
ORPHA:1772 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
Congenital Bilateral Absence Of Vas Deferens |
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Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Proboscis Lateralis |
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Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Abnormal location of the eyebrow,... |
ORPHA:141099 |
Joubert Syndrome |
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Apnea, Episodic tachypnea, Highly arched eyebrow, Low-set ears, Abnormal pattern of respiration |
ORPHA:475 |