| Genochondromatosis |
|
Metaphyseal chondromatosis of humerus, Metaphyseal chondromatosis of femur |
OMIM:137360 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Hydatidiform Mole |
|
Anemia, Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough |
ORPHA:64741 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Autoimmune thrombocytopenia, M... |
ORPHA:3325 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Idiopathic Achalasia |
|
Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing |
ORPHA:930 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
| Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Tuberculosis |
|
Cough, Weight loss, Abnormal lung morphology |
ORPHA:3389 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ... |
ORPHA:1164 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Split hand |
ORPHA:1447 |
| Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Bilateral cryptorchidism, Aplasia ... |
ORPHA:99429 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Abnormal bleeding, Dyspnea, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Left ventricular outflow tract obstruction, Aortic aneurysm, Congestive heart failure, Aortic reg... |
OMIM:614980 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level |
OMIM:618901 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
| Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... |
ORPHA:60033 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism, Increased serum testosterone level, Increased serum... |
ORPHA:180229 |
| Partial Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Urogenital sinus anomaly, Ambiguous genitalia, Abnormal circulating es... |
ORPHA:90797 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... |
OMIM:618806 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads, Short humerus |
OMIM:601438 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Aplasia of the uterus, Elev... |
OMIM:273250 |
| Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Congestive heart failure, Aorto-v... |
ORPHA:3400 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis medi... |
OMIM:608971 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Sinusitis, Otitis media, Decr... |
OMIM:312863 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Aortic aneur... |
OMIM:612422 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Failure to thrive, Absence of CD8-positive T cells, Eczematoid ... |
OMIM:269840 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... |
ORPHA:2019 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypoplasia of the... |
OMIM:619598 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent respiratory infections, Neutropenia, Recurrent otitis media |
OMIM:616022 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Abnormal bleeding, Respiratory distre... |
ORPHA:238459 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating follicle-stimulating hormone concentratio... |
OMIM:616950 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... |
OMIM:156500 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
| Aortic Valve Disease 2 |
|
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... |
OMIM:614823 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Common carotid artery aneurysm, Aortic... |
OMIM:613834 |
| Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Abnormal circulating testosterone concentration, Abnormal circulating ... |
OMIM:620103 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm, Cryptorchidism |
ORPHA:261102 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin ... |
ORPHA:91349 |
| Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome |
|
Bowing of the long bones |
ORPHA:2292 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:616030 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
| 47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... |
ORPHA:8 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... |
OMIM:618781 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Abnormal circulating testosterone concent... |
OMIM:108420 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Hypogonadism, Decreased testicular size, Decreased serum leptin, Recurr... |
OMIM:614962 |
| Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Increased se... |
ORPHA:91348 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia |
OMIM:247800 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... |
ORPHA:79127 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to th... |
OMIM:601457 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia |
OMIM:602079 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating lutei... |
OMIM:618086 |
| Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Atrial fibrillation, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Chronic Beryllium Disease |
|
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi... |
ORPHA:133 |
| Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Recurrent o... |
OMIM:612444 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... |
OMIM:615300 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... |
OMIM:600884 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... |
ORPHA:50251 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
| Immunodeficiency 32B |
|
Anemia, Recurrent respiratory infections, Bronchiectasis, Monocytopenia, Neutrophilia, Failure to... |
OMIM:226990 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Weight loss, Chronic oral candidiasis, Interstitia... |
ORPHA:723 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Hypovo... |
ORPHA:64739 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... |
OMIM:212840 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, f... |
ORPHA:90794 |
| Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... |
OMIM:618695 |
| Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... |
OMIM:614129 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... |
OMIM:615294 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Coxa vara, Flared iliac wing, Proximal femoral metaphyseal irregu... |
OMIM:183849 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Oligospermia, Precocious puberty, Long penis |
ORPHA:3000 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... |
OMIM:135580 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... |
OMIM:618841 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Carcinoma Of Esophagus |
|
Obesity, Cough, Weight loss |
ORPHA:70482 |
| Rin2 Syndrome |
|
Premature ovarian insufficiency, Aortic aneurysm, Hypergonadotropic hypogonadism, Cryptorchidism |
ORPHA:217335 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
| Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Clitoral hypertrophy, Congenital adrenal hy... |
ORPHA:96181 |
| Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615451 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections |
OMIM:608957 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Pneumonia, Atopic... |
OMIM:617638 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... |
OMIM:616726 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis, Cachexia |
ORPHA:139436 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing |
OMIM:166740 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614897 |
| Immunodeficiency 52 |
|
Bronchiectasis, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Ly... |
OMIM:617514 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczema, Lymphopenia, Neutropenia |
OMIM:300988 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Isolated Agammaglobulinemia |
|
Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... |
ORPHA:229717 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive v... |
ORPHA:1302 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
| Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Abnormal circulati... |
OMIM:615842 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Hypoplastic iliac wi... |
OMIM:228930 |
| Young Syndrome |
|
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
| Ciliary Dyskinesia, Primary, 46 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent otitis media, Recur... |
OMIM:619436 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... |
OMIM:618254 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones |
OMIM:211990 |
| Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neutropil anti... |
OMIM:607594 |
| Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... |
ORPHA:163976 |
| Cardiac Valvular Dysplasia 2 |
|
Systolic heart murmur, Ascending tubular aorta aneurysm, Left ventricular diastolic dysfunction, ... |
OMIM:620067 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Hypopla... |
ORPHA:247768 |
| Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Skin rash, Abnormality of neutrophils, Failure to thrive, Recurr... |
ORPHA:33355 |
| Mccune-Albright Syndrome |
|
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidis... |
ORPHA:562 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:66628 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Ischemic stroke, Hypov... |
ORPHA:91387 |
| Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Increased i... |
OMIM:209950 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... |
ORPHA:231160 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exertional dyspnea, Bronchie... |
ORPHA:2032 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
| Hemochromatosis, Type 2A |
|
Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypogonad... |
OMIM:602390 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... |
OMIM:615518 |
| Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... |
OMIM:608644 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic regurgitation, Aortic aneurysm |
ORPHA:98892 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bronchitis, Recurrent otitis media, Absent circulating B ce... |
OMIM:613501 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Respiratory failure, Weight loss, Acute leukemia, Intracranial hemorrhage, Bruising... |
ORPHA:3226 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:179494 |
| Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
| Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Systolic heart murmur, Ascending tubular aorta aneurysm, Left ventricul... |
ORPHA:3092 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... |
ORPHA:36238 |
| Gray Platelet Syndrome |
|
Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ... |
ORPHA:3287 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Stroke, Congestive heart failure |
ORPHA:3077 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphoc... |
OMIM:618108 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Ciliary Dyskinesia, Primary, 7 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... |
OMIM:611884 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary fu... |
ORPHA:97244 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Atopic dermatitis, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles,... |
ORPHA:2902 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Aortic regurgitation, Ascending tubular aorta aneurysm, Ascending aortic di... |
OMIM:619825 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
| Felty Syndrome |
|
Splenomegaly, Rhinitis, Anemia, Neutropenia, Weight loss, Arthritis, Pleuritis, Synovitis, Recurr... |
ORPHA:47612 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Weight loss, Rhe... |
ORPHA:79128 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
| 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 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Asthma, Eczema, Recurrent sinopulmonary infections, Failure to thrive, P... |
OMIM:607271 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmon... |
OMIM:615482 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Coug... |
ORPHA:90060 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... |
ORPHA:70587 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... |
ORPHA:432 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Chronic oral candidiasis, T lymphocytopenia, Skin rash, Impaired lympho... |
OMIM:300400 |
| Thrombocytopenia 5 |
|
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, We... |
ORPHA:75566 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... |
ORPHA:769 |
| Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, T lymph... |
ORPHA:217390 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Exertional dyspnea, Productive cough, Petechiae, Weight loss, Purpura, Abnorm... |
ORPHA:520 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... |
OMIM:266265 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Decreased response to growth hormone stimulation test, Decreased testicular size, De... |
ORPHA:95619 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis |
OMIM:618449 |
| Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... |
OMIM:300869 |
| Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:301077 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:411703 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Neutropenia, Im... |
OMIM:618986 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection |
OMIM:618496 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... |
ORPHA:163971 |
| Fragile X Syndrome |
|
Macroorchidism, Ascending tubular aorta aneurysm |
ORPHA:908 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Hypertension, Primary amenorrhea |
OMIM:191830 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Brain abscess, Recurrent respiratory infections, Hypoxem... |
OMIM:610910 |
| Ciliary Dyskinesia, Primary, 11 |
|
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Aspergillosis |
|
Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Hypersensitivity pneumonitis, Abnormal... |
ORPHA:1163 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Tibial bowing, Femoral bowi... |
OMIM:600785 |
| Ciliary Dyskinesia, Primary, 16 |
|
Pulmonary insufficiency, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary mo... |
OMIM:614017 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Purpura |
OMIM:612336 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... |
OMIM:619220 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is... |
ORPHA:2038 |
| Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Recurrent sinopulmonary infections, Failure to ... |
OMIM:616740 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
| Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
| Weismann-Netter Syndrome |
|
Lateral femoral bowing, Squared iliac bones, Anterior tibial bowing, Fibular bowing |
OMIM:112350 |
| 49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... |
ORPHA:98826 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, ... |
OMIM:613490 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruction, Recurrent... |
OMIM:616576 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
| Tularemia |
|
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... |
ORPHA:3392 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positive T cells, Lymphopenia, H... |
ORPHA:169160 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Hypertension,... |
OMIM:604367 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro... |
OMIM:616481 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Weight loss, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arre... |
ORPHA:188 |
| Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Weight loss, Hepatitis, Cardiac arrest, Interstitial pneumonitis, S... |
ORPHA:139402 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... |
OMIM:300068 |
| Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, Inflammation of the la... |
OMIM:619281 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Bronchiectasis, Eosinophilic infiltration of the esophagus, As... |
OMIM:243700 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Short metacarpal, Brachydactyly, Deviation of finger, Deformed humeral he... |
ORPHA:2831 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... |
OMIM:615500 |
| Common Variable Immunodeficiency |
|
Splenomegaly, Recurrent respiratory infections, Bronchiectasis, Hemolytic anemia, Recurrent bronc... |
ORPHA:1572 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Recurrent sinopu... |
OMIM:615513 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Cln3 Disease |
|
T-wave inversion, Increased circulating androgen concentration, Bradycardia |
ORPHA:228346 |
| Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... |
ORPHA:3093 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Chronic ... |
OMIM:614700 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... |
OMIM:242700 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... |
ORPHA:2298 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Dyspnea, Thrombocytopeni... |
ORPHA:231401 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Small for gestational age, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Recurrent pn... |
ORPHA:47 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... |
OMIM:150550 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... |
ORPHA:70578 |
| Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertension, Increased cir... |
ORPHA:347 |
| Hodgkin Lymphoma |
|
Dyspnea, Splenomegaly, Weight loss, Cough |
ORPHA:98293 |
| Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Weight loss, Intermittent claudication, Angina pec... |
ORPHA:729 |
| Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Allergic rhinitis, Asthma, Eosinophilia, Leukocytosis, Hematochezia, Atopic ... |
ORPHA:2070 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
| Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss |
ORPHA:100083 |
| Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Aor... |
OMIM:606519 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi... |
OMIM:615139 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased proportion of CD4-positive helpe... |
OMIM:301082 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Hemochromatosis, Type 3 |
|
Anemia, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Amenorrhea, Cardiomyo... |
OMIM:604250 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... |
ORPHA:486 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:614839 |
| Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... |
OMIM:613807 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
| Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Retinal hemorrhage, Conjunctivitis, Elevated bronchoalveolar lavage fl... |
OMIM:608710 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Splenomegaly, Secondary amenorrhea, Atherosclerosis, Maternal diabetes, Conge... |
ORPHA:79083 |
| Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal bleeding, Abn... |
ORPHA:35858 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Polyarteritis Nodosa |
|
Weight loss, Pleuritis, Raynaud phenomenon, Hypertension, Pericarditis, Abnormal lung morphology,... |
ORPHA:767 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... |
OMIM:617092 |
| Eosinophilic Fasciitis |
|
Weight loss, Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia |
ORPHA:3165 |
| Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Hypertension, Adrenal hyperplasia, Male pseudohermap... |
OMIM:202110 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Lymphocy... |
ORPHA:911 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pulmonary insufficiency, Pneumothorax, Hyp... |
ORPHA:70588 |
|
