Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... |
OMIM:617585 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... |
OMIM:279000 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,... |
OMIM:612444 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Chromosome breakage, Splenomegaly, Respiratory insufficiency, R... |
OMIM:609981 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:617243 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... |
OMIM:616435 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... |
OMIM:617638 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... |
OMIM:269840 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pn... |
OMIM:615518 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Autoimmune Hypoparathyroidism |
|
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:36913 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Fragile X Syndrome |
|
Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Otitis media, Chronic otitis media |
ORPHA:908 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia |
OMIM:175500 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash |
OMIM:618097 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Recu... |
OMIM:613501 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... |
OMIM:301082 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dyspnea, Asthma, Chronic pulmonary ... |
ORPHA:1163 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Reduced natural... |
OMIM:620133 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... |
OMIM:618459 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... |
OMIM:300400 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Recurrent otitis media, Chronic sin... |
OMIM:613502 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... |
ORPHA:397596 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia |
OMIM:193670 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Decreased CD4:CD8 ratio |
OMIM:607271 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Absent outer dynein arms, Asthma, Bronchiec... |
OMIM:616037 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... |
OMIM:210900 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:614935 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... |
ORPHA:169160 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Ataxia, Inappropriate laughter, Difficulty walking |
OMIM:618476 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... |
ORPHA:98818 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Eczema, Cryptorchidis... |
OMIM:617052 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Anemia |
OMIM:617883 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... |
OMIM:600901 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... |
ORPHA:79444 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... |
OMIM:271980 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... |
OMIM:227650 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Co... |
OMIM:620197 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... |
OMIM:614868 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormal testis morphology... |
ORPHA:100 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Chron... |
OMIM:244400 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia,... |
OMIM:603467 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... |
ORPHA:2268 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou... |
ORPHA:228119 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autosomal Dominant Hypocalcemia |
|
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability |
ORPHA:428 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalce... |
ORPHA:79443 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... |
OMIM:227645 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Neutropenia |
OMIM:609053 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Hypophosphatasia |
|
Irritability, Hypercalcemia |
ORPHA:436 |
Fanconi Anemia, Complementation Group P |
|
Anemia, Cryptorchidism, Pancytopenia, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Ethylene Glycol Poisoning |
|
Ataxia, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Hypocalcemia, Depression |
OMIM:212750 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Rhabdoid Tumor |
|
Irritability, Hypercalcemia |
ORPHA:69077 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... |
OMIM:606763 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Recurrent pneumo... |
OMIM:619644 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Velocardiofacial Syndrome |
|
Emotional lability, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis |
OMIM:614069 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
Hypophosphatasia, Infantile |
|
Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia |
OMIM:241500 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Hypocalcemia |
ORPHA:746 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compul... |
ORPHA:476126 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... |
OMIM:242860 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... |
ORPHA:39041 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... |
OMIM:616433 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... |
OMIM:619705 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... |
ORPHA:139402 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... |
OMIM:227646 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Osteopetrosis, Autosomal Recessive 5 |
|
Irritability, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctiviti... |
OMIM:601495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Leukocytosis, Splenome... |
ORPHA:829 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... |
OMIM:616005 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia |
ORPHA:99812 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Pearson Syndrome |
|
Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia |
ORPHA:699 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Gitelman Syndrome |
|
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia |
ORPHA:358 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression |
OMIM:600740 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... |
OMIM:618131 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiectasis, Recurrent pneumonia, ... |
OMIM:300755 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... |
ORPHA:83471 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... |
ORPHA:1304 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... |
ORPHA:2552 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation |
ORPHA:52503 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Liver abscess, Neutrophilia, Abnormal lung morphology, Abnormal testis morphology,... |
ORPHA:54251 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Attention deficit hyperactivity disorder, Depression |
ORPHA:567 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec... |
ORPHA:811 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Abnormality of chromosome stability, Abnormal lung lobation, Thrombocytopenia |
OMIM:300514 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... |
OMIM:607944 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... |
ORPHA:79124 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Pul... |
OMIM:612852 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Impulsivity, Hypomagnesemia, Bruxism, Stereotypical body rocking, Falls, Low fr... |
OMIM:619503 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait |
OMIM:207800 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia |
ORPHA:169090 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... |
ORPHA:125 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia |
ORPHA:1867 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... |
ORPHA:810 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Relapsing Fever |
|
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia |
ORPHA:91547 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Abnormality of chromosome s... |
ORPHA:647 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia |
OMIM:277440 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, E... |
ORPHA:228123 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotional labi... |
OMIM:610217 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ... |
OMIM:619381 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Meningioma |
|
Progressive pulmonary function impairment, Abnormality on pulmonary function testing, Chromosomal... |
ORPHA:2495 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Mirage Syndrome |
|
Cryptorchidism, Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopen... |
OMIM:617053 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:249 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
Digeorge Syndrome |
|
Hypocalcemia, Attention deficit hyperactivity disorder |
OMIM:188400 |
Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis... |
ORPHA:3260 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Gaucher Disease, Type Ii |
|
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo... |
OMIM:230900 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia |
ORPHA:247691 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thrombocyto... |
OMIM:615846 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Charge Syndrome |
|
Hypocalcemia, Self-mutilation, Dysphagia |
OMIM:214800 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Leukocytosis, Thrombocyt... |
ORPHA:340 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Anorexia |
ORPHA:97282 |
Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Glucagonoma |
|
Hypercalcemia, Anorexia, Depression |
ORPHA:97280 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia |
OMIM:268130 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Somatostatinoma |
|
Hypercalcemia, Anorexia |
ORPHA:97283 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Grfoma |
|
Hypercalcemia, Anorexia |
ORPHA:97261 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Chops Syndrome |
|
Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... |
OMIM:616368 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... |
ORPHA:221139 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... |
ORPHA:68 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Osteoarthritis, Leukopenia, Nephritis, Thrombocytopenia |
ORPHA:2298 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Cryptorchidism, ... |
ORPHA:84 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Atrial Septal Defect, Ostium Secundum Type |
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Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Williams Syndrome |
|
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Dysmetria, Depression,... |
ORPHA:904 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:253200 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... |
ORPHA:449395 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Depression |
ORPHA:652 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Cornelia De Lange Syndrome 1 |
|
Cryptorchidism, Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly |
ORPHA:309282 |
Marshall-Smith Syndrome |
|
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... |
OMIM:602535 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Pneumonia |
ORPHA:90790 |
Degcags Syndrome |
|
Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Cryptorchidism, Asthma, Hepatosplenomegal... |
OMIM:619488 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr... |
ORPHA:581 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Neutrophilia, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Erythema ... |
ORPHA:99827 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Tay-Sachs Disease |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Obsessive-compulsive trait, Gait imbalance, Attention deficit hyperactivity disorder |
OMIM:194050 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Ente... |
ORPHA:707 |
Sotos Syndrome |
|
Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:821 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Coffin-Siris Syndrome |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
ORPHA:444077 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media |
ORPHA:353281 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia, Cryptorchidism |
OMIM:264090 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... |
ORPHA:353277 |
Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Aspiration pneumonia, Anemia |
ORPHA:438213 |
Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Cryptorchidism |
OMIM:216340 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Aspiration pneumonia, Impaired neutrophil chemotaxis, Decreas... |
ORPHA:79318 |