Prostatic Hyperplasia, Benign |
|
Benign prostatic hyperplasia |
OMIM:600082 |
Prostate Cancer, Hereditary, 1 |
|
Prostate cancer |
OMIM:601518 |
Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |
Prostate Cancer, Hereditary, X-Linked 1 |
|
Prostate cancer |
OMIM:300147 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level |
OMIM:312863 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... |
OMIM:273250 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia |
ORPHA:3347 |
Immunodeficiency 48 |
|
Recurrent candida infections, Panhypogammaglobulinemia, Pneumonia, Eczematoid dermatitis, Recurre... |
OMIM:269840 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis m... |
OMIM:608971 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... |
OMIM:612444 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... |
OMIM:307200 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis |
OMIM:618806 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:619436 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Myocar... |
OMIM:610947 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... |
ORPHA:60033 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Peritonitis, Pneumonia, Recurrent bacterial infections |
OMIM:615561 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, Asthma, Recurrent sinusiti... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... |
OMIM:601457 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... |
ORPHA:1303 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Gaisböck Syndrome |
|
Hyperuricemia, Elevated diastolic blood pressure, Hypovolemia, Increased circulating renin level,... |
ORPHA:90041 |
Melioidosis |
|
Septic arthritis, Prostatitis, Hepatitis, Cutaneous abscess, Foot osteomyelitis, Parotitis, Pneum... |
ORPHA:31202 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:178320 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Recurrent mycobacterial infections, Tegumentary leishmaniasis susceptibility, Recu... |
ORPHA:319552 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia |
OMIM:221400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Leydig Cell Hypoplasia |
|
Primary amenorrhea, Testicular gonadoblastoma, Ambiguous genitalia, Female hypogonadism, Primary ... |
ORPHA:755 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... |
OMIM:607594 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... |
ORPHA:70578 |
Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Microsporidiosis |
|
Prostatitis, Myositis, Pneumonia, Endocarditis, Lymphadenitis, Osteomyelitis, Thyroiditis, Cholan... |
ORPHA:2552 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis |
OMIM:620032 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... |
OMIM:616185 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:615481 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... |
OMIM:616576 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... |
OMIM:617638 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Chronic oral candidiasis, Skin rash, Decreased circulating IgE, ... |
OMIM:300400 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis |
OMIM:618648 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmona... |
OMIM:615513 |
Bdv Syndrome |
|
Central hypothyroidism, Primary amenorrhea, Decreased circulating follicle stimulating hormone co... |
OMIM:619326 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... |
OMIM:616648 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia |
OMIM:247800 |
Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia |
ORPHA:930 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level |
OMIM:618901 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Increased circulating antibody level, Hep... |
ORPHA:169160 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... |
OMIM:616481 |
Agammaglobulinemia, X-Linked |
|
Conjunctivitis, Septic arthritis, Bronchiectasis, Prostatitis, Pyoderma, Enteroviral hepatitis, R... |
OMIM:300755 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmonary infections, Complete or ... |
OMIM:607271 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... |
OMIM:615139 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... |
OMIM:615482 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... |
OMIM:618699 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... |
OMIM:201810 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... |
OMIM:604571 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... |
OMIM:617091 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurr... |
OMIM:614069 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased urinary cortisol level, I... |
ORPHA:1501 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Increased circulating gonadotropin level, Cryptorchidism... |
OMIM:300869 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... |
OMIM:615207 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspiratory cra... |
OMIM:610910 |
X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... |
ORPHA:163971 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... |
ORPHA:183675 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract ... |
OMIM:608184 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... |
OMIM:613808 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... |
OMIM:612650 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Cognitive impairment, Abnormal autonomic nervous system physiology... |
ORPHA:369873 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth... |
OMIM:243700 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Ch... |
ORPHA:900 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Dilated cardiomyopathy, El... |
ORPHA:26793 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... |
ORPHA:723 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:619126 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:613193 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... |
ORPHA:449280 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... |
OMIM:614935 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Sepsis, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failu... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Prostatitis, Thyroiditis, Cholangitis, Sinusitis, Orchitis... |
ORPHA:449563 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Increased circulating IgG level, Recurrent otitis media, Increased circulating Ig... |
OMIM:619220 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... |
OMIM:616037 |
Alkaptonuria |
|
Arthritis, Osteoarthritis, Prostatitis |
ORPHA:56 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary moti... |
OMIM:613807 |
Cryptococcosis |
|
Peritonitis, Pneumonia, Osteomyelitis, Prostatitis |
ORPHA:1546 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... |
ORPHA:229717 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Immunodeficiency 77 |
|
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis, Recurrent tonsillitis |
OMIM:619223 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the thyroid gland, Xerostomia, Prostatitis, Cholangitis |
ORPHA:449432 |
Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased circula... |
OMIM:606069 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Abnormality of the anterior pituitary, Prostatitis, ... |
ORPHA:449395 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Immunodeficiency 52 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent infections, ... |
OMIM:617514 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Cardiomyopathy |
OMIM:520000 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Subconjunctival hemorrhage, Pericarditis, ... |
ORPHA:509 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... |
OMIM:614878 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis |
ORPHA:464370 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Recurrent respiratory infections, Bronchiectasis, Sinusitis, Recu... |
OMIM:226990 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Recurrent opportunist... |
ORPHA:276 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing |
ORPHA:97244 |
Immunodeficiency 102 |
|
Sepsis, Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronc... |
OMIM:301082 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D... |
OMIM:610489 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Immunodeficiency 13 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... |
OMIM:615518 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Sepsis, Decreased circulating IgG level,... |
OMIM:614700 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... |
OMIM:613490 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Congestive heart failure |
OMIM:260450 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ... |
ORPHA:33110 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Decreased spec... |
OMIM:300853 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... |
OMIM:614017 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Dengue Fever |
|
Hypotension, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorrhage |
ORPHA:99828 |
Congenital Analbuminemia |
|
Low pulse pressure, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:86816 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis |
OMIM:266265 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm... |
ORPHA:36238 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneous... |
OMIM:619752 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Incr... |
OMIM:618523 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... |
ORPHA:1163 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent... |
ORPHA:911 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... |
OMIM:618394 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... |
OMIM:618063 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing |
OMIM:604809 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypoproteinemia, Sensorineural hearing impairment |
ORPHA:2315 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Delayed puberty, Hypoplasia of t... |
OMIM:615363 |
Ménétrier Disease |
|
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia |
ORPHA:2494 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... |
OMIM:606763 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypsarrhythmia, Hypoproteinemia |
OMIM:608093 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent ear infections, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Recurrent sinop... |
ORPHA:486 |
Immunodeficiency 58 |
|
Chronic bronchitis, Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Colitis, Onych... |
OMIM:618131 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor |
OMIM:618970 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia |
OMIM:226300 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Tularemia |
|
Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chroni... |
OMIM:244400 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary... |
OMIM:618986 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Primary gonadal insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Prematur... |
OMIM:603896 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Eczema, Congenital adrenal hyperplasia, Cli... |
ORPHA:96181 |
Thymic Aplasia |
|
Recurrent candida infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus infection... |
ORPHA:83471 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segmen... |
ORPHA:90065 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertriglyceridemia, Hypertension, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Sepsis, Bronchiectasis, Decreased circulating antibod... |
ORPHA:51636 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Avian Influenza |
|
Conjunctivitis, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distr... |
ORPHA:454836 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Cough, Bronchiectasis |
OMIM:619468 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, Recurrent pneumonia, Rec... |
OMIM:150550 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:615895 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, ... |
OMIM:242700 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent fungal infections, Recurrent mycobacterial infections, Recurrent bacterial infections, ... |
ORPHA:169090 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Increased inflammatory response, Increased circulating IgM level, S... |
OMIM:209950 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Puberty and gonadal disorders |
ORPHA:79320 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased LDL cholesterol concent... |
OMIM:615812 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... |
ORPHA:2232 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Timothy Syndrome |
|
Bronchitis, Pneumonia, Recurrent infections |
OMIM:601005 |
Cln3 Disease |
|
Increased circulating androgen concentration, Acne |
ORPHA:228346 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... |
OMIM:102700 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough |
OMIM:615434 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... |
ORPHA:420741 |
Fusariosis |
|
Onychomycosis, Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Arthriti... |
ORPHA:228119 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Sinusitis, Dyspnea, Cough, ... |
ORPHA:662 |
Mccune-Albright Syndrome |
|
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... |
ORPHA:562 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... |
ORPHA:361 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Chédiak-Higashi Syndrome |
|
Cognitive impairment, Dementia, Epistaxis, Increased circulating ferritin concentration, Hypoprot... |
ORPHA:167 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Recurrent bacterial infec... |
OMIM:613179 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circula... |
OMIM:242860 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent ear infections, Pulmonary hemorrhage, Panhypogammaglobulinemia, Recurrent aspiration pn... |
ORPHA:79124 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody level, Recurrent... |
ORPHA:1572 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Elevated circulating luteinizing hormone lev... |
ORPHA:3044 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Sepsis |
ORPHA:231154 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Sepsis, Recurrent infections, Recurrent aspir... |
ORPHA:204 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress |
ORPHA:238459 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Respiratory tract infection, Respiratory failure, Bronchiecta... |
ORPHA:244 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Respiratory tract infection, Osteomyelitis, Recurrent urinary trac... |
ORPHA:36234 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... |
ORPHA:79126 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Bronchie... |
ORPHA:293978 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Decreased circulating IgA level,... |
OMIM:619652 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Arthritis, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellit... |
ORPHA:465508 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Colitis, Recurrent skin infections... |
ORPHA:37042 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... |
ORPHA:39812 |
Good Syndrome |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Dyspnea... |
ORPHA:169105 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Progressive neurologic deterioration, EEG abnorma... |
ORPHA:206448 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
Infantile Krabbe Disease |
|
Optic atrophy, Psychomotor deterioration, Abnormal heart rate variability, Decreased nerve conduc... |
ORPHA:206436 |
Immunodeficiency 40 |
|
Respiratory tract infection, Chronic oral candidiasis, Interstitial pneumonitis, Recurrent otitis... |
OMIM:616433 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... |
OMIM:615952 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Recurrent otitis media, Recurrent upper respiratory tract infections, P... |
OMIM:600802 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... |
ORPHA:2357 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... |
ORPHA:542323 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypospadias, Delayed puberty, Hypergo... |
ORPHA:2959 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Rhinorrhea, Wheezing, Bronchiectasis |
OMIM:617577 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, Recurrent upper respiratory tract infections, Otitis media, Pneumonia, ... |
OMIM:602450 |
Nocardiosis |
|
Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumonia, Nonproducti... |
ORPHA:31204 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... |
ORPHA:2298 |
Immunodeficiency 36 With Lymphoproliferation |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Dec... |
OMIM:616005 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame... |
OMIM:604168 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... |
ORPHA:79128 |
Omenn Syndrome |
|
Recurrent bacterial infections, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fu... |
OMIM:603554 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... |
ORPHA:769 |
Pgm3-Cdg |
|
Bronchiectasis, Eczema, Recurrent skin infections, Recurrent viral infections, Atopic dermatitis,... |
ORPHA:443811 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Cognitive impai... |
ORPHA:99027 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Colitis, ... |
OMIM:301220 |
Omenn Syndrome |
|
Thyroiditis, Pneumonia, Sepsis, Erythroderma |
ORPHA:39041 |
Bloom Syndrome |
|
Bronchitis, Respiratory tract infection, Rhinitis, Decreased circulating total IgM, Decreased cir... |
ORPHA:125 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Sweet Syndrome |
|
Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... |
ORPHA:3243 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration |
OMIM:201100 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Recurrent infections, Recurrent gastroenteritis |
ORPHA:309288 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Leukocyte Adhesion Deficiency |
|
Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections, Glomerulonephritis, Lympho... |
ORPHA:2968 |
Charcot-Marie-Tooth Disease Type 1F |
|
Cognitive impairment, Sensorineural hearing impairment, Absent brainstem auditory responses, Opti... |
ORPHA:101085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia, Progressive neurologic deterioration |
OMIM:615453 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... |
ORPHA:98905 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... |
ORPHA:139402 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis |
OMIM:618253 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, ... |
OMIM:619991 |
Q Fever |
|
Endocarditis, Abnormal pulmonary interstitial morphology, Myocarditis, Osteomyelitis, Maculopapul... |
ORPHA:781 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:158061 |
Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Bacterial endocarditis, Inflammatory abnormality of the skin,... |
ORPHA:48435 |
Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pneumonia, Nonproducti... |
ORPHA:97287 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Dend Syndrome |
|
Thickened ears, Hypsarrhythmia, Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:158310 |
Immunodeficiency 82 With Systemic Inflammation |
|
Bronchitis, Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Hepa... |
OMIM:619381 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Decreased circulating total IgM, Recurrent aspiration pneumonia, Decrea... |
ORPHA:221139 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Impotence, Decreased serum estradiol, ... |
ORPHA:91355 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche |
ORPHA:2976 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Pierson Syndrome |
|
Retinal hemorrhage, Hypoproteinemia, Hypertension |
OMIM:609049 |
Listeriosis |
|
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... |
ORPHA:533 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... |
ORPHA:99889 |
Cerebrotendinous Xanthomatosis |
|
Cognitive impairment, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... |
ORPHA:909 |
Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Recurrent infections, Pneumonia |
ORPHA:1855 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Myocarditis, Respiratory tract infection, Increased circulating interleukin 6 c... |
ORPHA:544482 |
Shigellosis |
|
Conjunctivitis, Myocarditis, Arthritis, Ulcerative colitis, Uveitis, Peritonitis, Pneumonia, Acut... |
ORPHA:810 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... |
ORPHA:99104 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607944 |
Juvenile Polyposis Syndrome |
|
Pulmonary arterial hypertension, Mucosal telangiectasiae, Transient ischemic attack, Spontaneous,... |
ORPHA:2929 |
Coccidioidomycosis |
|
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... |
ORPHA:228123 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Urinary blad... |
ORPHA:556 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Central sleep apnea, Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Lymphatic Filariasis |
|
Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Hydrocele testis, Epididymitis, Glo... |
ORPHA:2035 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... |
OMIM:216400 |
Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... |
ORPHA:70 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Pneumonia, Sepsis |
ORPHA:247691 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Zygomycosis |
|
Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Endocarditis, Entero... |
ORPHA:73263 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... |
ORPHA:99103 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Ao... |
ORPHA:401973 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Orc... |
ORPHA:32960 |
Mirage Syndrome |
|
Recurrent bacterial infections, Aspiration pneumonia, Sepsis, Recurrent urinary tract infections |
OMIM:617053 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... |
ORPHA:85436 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... |
OMIM:133540 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Aspiration pneumonia, Tracheobronchial leiomyomatosis, Dyspnea, Cough, Keratitis, Recurrent respi... |
ORPHA:1018 |
Gm1 Gangliosidosis |
|
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia |
ORPHA:354 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Increased circulating antibody level, Skin rash, Arthritis, Hepatitis, Chilbl... |
OMIM:615846 |
Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Bronchiolitis |
OMIM:230900 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Cystic Fibrosis |
|
Bronchiectasis, Asthma, Recurrent bronchopulmonary infections, Chronic sinusitis, Reduced forced ... |
OMIM:219700 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Keratoconjunctivitis sicca, De... |
ORPHA:495875 |
Robinow Syndrome |
|
External genital hypoplasia, Webbed penis, Hypoplastic labia majora, Clitoral hypoplasia, Decreas... |
ORPHA:97360 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory tract infection, Recurrent gastroenteritis, Hypercapnia, Dyspnea, Respiratory failure... |
ORPHA:79138 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Cystic Fibrosis |
|
Pneumothorax, Recurrent Haemophilus influenzae infections, Bronchiectasis, Recurrent Staphylococc... |
ORPHA:586 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Increased circulating interleukin 6 concentration, Acute tubulointe... |
ORPHA:340 |
Shwachman-Diamond Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Recurrent bacterial infections, Sinusitis, Recurrent viral infe... |
ORPHA:811 |
Familial Mediterranean Fever |
|
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis |
OMIM:249100 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea |
OMIM:617809 |
Familial Mediterranean Fever |
|
Skin rash, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis, Pancreatitis, Osteoarthritis |
ORPHA:342 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Recurrent urinary tract infections, Pyoderma, Gastrointestinal inflammation, Respir... |
ORPHA:79404 |
Behçet Disease |
|
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pericarditis,... |
ORPHA:117 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... |
OMIM:612132 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Immunoglobulin A Vasculitis |
|
Skin rash, Arthritis, Pustule, Episcleritis, Infectious encephalitis, Orchitis |
ORPHA:761 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Recurrent gastroenteritis, Recurrent infections, Otitis media... |
ORPHA:309282 |
Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... |
OMIM:253200 |
Chops Syndrome |
|
Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... |
OMIM:616368 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Mucopolysaccharidosis Type 3 |
|
Respiratory tract infection, Aspiration pneumonia, Recurrent sinopulmonary infections, Upper airw... |
ORPHA:581 |
Lissencephaly Due To Lis1 Mutation |
|