| 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 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Failure to thrive, Chronic... |
OMIM:617585 |
| 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 |
| Pulmonary Blastoma |
|
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
| Gonadoblastoma |
|
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:206484 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... |
OMIM:613953 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Bowing of the long bones, Abnormal epiphysis morphology, Abnormal... |
ORPHA:1040 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... |
ORPHA:70592 |
| Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia, M... |
ORPHA:3325 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... |
OMIM:615436 |
| Idiopathic Achalasia |
|
Bronchitis, Cough, Recurrent aspiration pneumonia, Wheezing, Weight loss |
ORPHA:930 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Isosexual precocious pu... |
ORPHA:90795 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Epiphyseal stippling |
OMIM:600121 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... |
ORPHA:1164 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:1447 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:617349 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand |
ORPHA:1118 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... |
OMIM:619665 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Acute Myelomonocytic Leukemia |
|
Dyspnea, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormal bleeding, Weight loss |
ORPHA:517 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Aortic aneurysm, Left ventricular outflow tract obstruction, Aortic regurgit... |
OMIM:614980 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity, Flared metaphysis, ... |
ORPHA:93356 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Decreased testicular size, Increased serum t... |
OMIM:202010 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,... |
OMIM:611521 |
| 46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Increased serum testosterone level, Ambiguous genitalia |
OMIM:618901 |
| Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
| Polyembryoma |
|
Increased serum testosterone level, Isosexual precocious puberty, Increased serum serotonin, Abno... |
ORPHA:180229 |
| Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Elevated circulating luteinizing hormone level, Increased serum testosteron... |
ORPHA:90797 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... |
OMIM:612964 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... |
OMIM:619203 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly |
OMIM:601438 |
| Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... |
OMIM:273250 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aortic morphology, Aorto-vent... |
ORPHA:3400 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent otitis media, P... |
OMIM:608971 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
| Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
| Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Re... |
OMIM:612422 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... |
OMIM:312863 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
| Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Failure to thrive, Splenomegaly, Pneumon... |
OMIM:269840 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss |
ORPHA:141152 |
| Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst |
ORPHA:397685 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Abnormali... |
ORPHA:2019 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... |
OMIM:619598 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia, Recurrent otitis media, Failure to thrive |
OMIM:616022 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
| Slc35A1-Cdg |
|
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... |
ORPHA:238459 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Crypt... |
OMIM:614841 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Metaphyseal sclerosis, Genu varum, ... |
OMIM:156500 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... |
ORPHA:314478 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Cryptorchidism, Patent ductus arteriosus |
ORPHA:261102 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Hypoplasia o... |
ORPHA:168563 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... |
ORPHA:3411 |
| Aortic Valve Disease 2 |
|
Coarctation of aorta, Mitral regurgitation, Pulmonic stenosis, Aortic aneurysm, Calcification of ... |
OMIM:614823 |
| Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Cryptorchidism, Thoracic aortic ane... |
OMIM:613834 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Adrenocortico... |
ORPHA:91349 |
| Obsolete: 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 testicular size, Cryptorchidism, Micropenis, Hypogonadism, Reduced response to gonadotr... |
OMIM:616030 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... |
OMIM:610489 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... |
ORPHA:1303 |
| Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Recurrent ear infections... |
OMIM:614962 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Increased serum testosterone level, Isosexual precocious puberty, Decreased resp... |
ORPHA:91348 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... |
ORPHA:79127 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia |
OMIM:247800 |
| Trimethylaminuria |
|
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... |
OMIM:601457 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Ascending aortic dissection, Atrial fibrillation, Aortic tortuosity |
OMIM:616166 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia |
OMIM:615555 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
| Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... |
OMIM:612444 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... |
OMIM:201250 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Vascular dil... |
OMIM:600884 |
| Perrault Syndrome 4 |
|
Oligomenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, Hyp... |
OMIM:615300 |
| Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
| Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d... |
ORPHA:50251 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Chr... |
ORPHA:723 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Failure to thrive, Eosinophil... |
OMIM:226990 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Capillary leak, Ovarian cyst, Increased circulating gonadotro... |
ORPHA:64739 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Gordon Holmes Syndrome |
|
Oligomenorrhea, Primary amenorrhea, Absence of pubertal development, Secondary amenorrhea, Hypogo... |
OMIM:212840 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Chronic rhinitis, Decreased nasal nitri... |
OMIM:618695 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... |
ORPHA:90794 |
| Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Hypertension, Hyperinsulinemia, Infertility, Abnormal circula... |
ORPHA:280356 |
| Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... |
OMIM:200700 |
| Partington Syndrome |
|
Facial telangiectasia, Macroorchidism |
ORPHA:94083 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Arterial fibromuscular dysplasia, Intermittent claudication, Aortic dissection, Myocardia... |
OMIM:135580 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Decreased serum estradiol, Hypothalamic gona... |
OMIM:618841 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
| Carcinoma Of Esophagus |
|
Cough, Weight loss, Obesity |
ORPHA:70482 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... |
OMIM:253240 |
| Rin2 Syndrome |
|
Aortic aneurysm, Premature ovarian insufficiency, Cryptorchidism, Hypergonadotropic hypogonadism |
ORPHA:217335 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... |
ORPHA:96181 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Ulcerative colitis, Eosinophilia, Bronchiectasis, Pneumonia, Colonic eosinophi... |
OMIM:617638 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... |
OMIM:615451 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Hyperaldosteronism, Diabetes mellitus, Incre... |
ORPHA:1501 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent oti... |
OMIM:616726 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... |
ORPHA:3344 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
| Premature Ovarian Failure 15 |
|
Oligomenorrhea, Decreased cirrculating antimullerian hormone circulation, Elevated circulating fo... |
OMIM:618096 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... |
OMIM:617514 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Decreased circulating follic... |
OMIM:614897 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Eczema, Lymphopenia, Neutropenia |
OMIM:300988 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... |
ORPHA:229717 |
| Cryptogenic Organizing Pneumonia |
|
Dyspnea, Leukocytosis, Restrictive ventilatory defect, Cough, Hypoxemia, Neutrophilia, Respirator... |
ORPHA:1302 |
| Estrogen Resistance Syndrome |
|
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Absence of sec... |
ORPHA:785 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis, Congenital pulmonary ai... |
OMIM:279000 |
| 46,Xy Sex Reversal 1 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Gonadoblastoma, Gonadal dysgenesis with female a... |
OMIM:400044 |
| Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... |
OMIM:615504 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Ciliary Dyskinesia, Primary, 39 |
|
Cough, Recurrent lower respiratory tract infections, Decreased nasal nitric oxide, Chronic lung d... |
OMIM:618254 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Thoracic a... |
OMIM:617168 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... |
OMIM:619436 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones |
OMIM:211990 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Cardiac Valvular Dysplasia 2 |
|
Left ventricular diastolic dysfunction, Pulmonary artery dilatation, Systolic heart murmur, Pulmo... |
OMIM:620067 |
| Reticular Dysgenesis |
|
Chronic otitis media, Recurrent respiratory infections, Leukopenia, Skin rash, Anemia, Abnormalit... |
ORPHA:33355 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Subarachnoid hemorrhage, Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extra... |
ORPHA:91387 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... |
ORPHA:247768 |
| Mccune-Albright Syndrome |
|
Goiter, Elevated circulating growth hormone concentration, Abnormal endocrine physiology, Increas... |
ORPHA:562 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Decreased testicular size, Cryptorchidism, Retractile testis, Hypergonadotropic hypogonadism, Inc... |
ORPHA:163976 |
| Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... |
ORPHA:66628 |
| Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... |
ORPHA:231160 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Aplasia/Hypoplasia of t... |
ORPHA:1275 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Pneumonia,... |
OMIM:209950 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia, Testicular atr... |
ORPHA:52901 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... |
OMIM:265450 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Bronchitis, Pneumonia, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Failure to thrive in infancy, Hypoxemia, Crazy ... |
ORPHA:264675 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Pulmonary insuffi... |
ORPHA:2032 |
| Hemochromatosis, Type 2A |
|
Arrhythmia, Cardiomyopathy, Splenomegaly, Infertility, Azoospermia, Congestive heart failure, Hyp... |
OMIM:602390 |
| Periventricular Nodular Heterotopia |
|
Aortic aneurysm, Patent ductus arteriosus, Aortic regurgitation |
ORPHA:98892 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Bronchiolitis obliterans organizing pneumonia, Lymphopenia, T lymphocyto... |
OMIM:615518 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, El... |
OMIM:619834 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Re... |
OMIM:608644 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent lower respiratory tract infections, Failure to thrive, Absent circulating ... |
OMIM:613501 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... |
OMIM:300991 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... |
ORPHA:3226 |
| 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 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Hyperinsulinemia, Hypergonadotropic hypogonad... |
ORPHA:179494 |
| Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
| Fixed Subaortic Stenosis |
|
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, C... |
ORPHA:3092 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... |
OMIM:184253 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Abnormality of the Leydig cells, Micropenis, Elevated circulating follicle stimu... |
OMIM:228300 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection |
OMIM:604308 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of the menstrual cycle, Epistaxis, Splenomegaly |
ORPHA:721 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Hypotension, Cough, Hypoxemia, Nonproductive cough,... |
ORPHA:36238 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypoplasia of the uterus, Decre... |
OMIM:614842 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Vasculitis, Hypertension, Ascending tubular aorta aneurysm, Cere... |
ORPHA:3287 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Stroke, Macroorchidism, Congestive heart failure |
ORPHA:3077 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... |
OMIM:158330 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... |
OMIM:611548 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Failure to thrive |
OMIM:609528 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Reduced natural... |
OMIM:618108 |
| Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... |
OMIM:611884 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Dyspnea, Atopic dermatitis, Leukocytosis, Atelectasis, Restrictive ventilatory... |
ORPHA:2902 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... |
ORPHA:1916 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea |
OMIM:184700 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic di... |
OMIM:619825 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... |
ORPHA:97244 |
| Pituicytoma |
|
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... |
ORPHA:251623 |
| Felty Syndrome |
|
Recurrent respiratory infections, Chronic otitis media, Pleuritis, Anemia, Neutropenia, Abnormal ... |
ORPHA:47612 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:615723 |
| Lymphoid Interstitial Pneumonia |
|
Raynaud phenomenon, Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive vent... |
ORPHA:79128 |
| Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... |
OMIM:615505 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Failure to thrive, Pneumonia, Eczema... |
OMIM:607271 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Cortisone Reductase Deficiency 1 |
|
Oligomenorrhea, Infertility, Precocious puberty |
OMIM:604931 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Flattened epiphysis, Ulnar bowing, Coxa vara, Flared iliac wing,... |
OMIM:602111 |
| Diffuse Alveolar Hemorrhage |
|
Dyspnea, Increased DLCO, Leukocytosis, Anemia, Restrictive ventilatory defect, Cough, Hypoxemia, ... |
ORPHA:90060 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... |
OMIM:615482 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... |
OMIM:300400 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pulmonary edema... |
ORPHA:70587 |
| Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Dyspnea, Mitral regurgitation, Cough, Arrhythmia, Palpita... |
ORPHA:75566 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Increased pineal volume, Diabetic ketoacidosis, Clitoral hype... |
ORPHA:769 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Leukocytosis, Stomatitis, Diffuse alveolar hemorrhage, Leukopenia, Anemia, Pro... |
ORPHA:520 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Impaired nasal mucociliary clearance |
OMIM:618449 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... |
ORPHA:217390 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Decreased testicular size, Hypotension, Decreased response to growth hormone sti... |
ORPHA:95619 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia... |
OMIM:266265 |
| Familial Dilated Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... |
ORPHA:217607 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... |
ORPHA:243 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... |
ORPHA:3130 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Increased circulating gonadotropin level... |
OMIM:300869 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, E... |
OMIM:301077 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Aortic Valve Disease 3 |
|
Ascending aortic dissection, Aortic valve stenosis, Aortic root aneurysm |
OMIM:618496 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Recurrent respiratory infections, Leukopenia, Chronic pulmonary obstruction, ... |
OMIM:618986 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Hypertension, Primary amenorrhea, Bicornuate uterus |
OMIM:191830 |
| Interstitial Lung Disease 1 |
|
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... |
OMIM:619611 |
| Fragile X Syndrome |
|
Macroorchidism, Ascending tubular aorta aneurysm |
ORPHA:908 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... |
OMIM:619466 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Decreased testicular size, Cryptorchidism, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:163971 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Metaphy... |
OMIM:600785 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... |
OMIM:610910 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... |
OMIM:612649 |
| 46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
| 49,Xxxyy Syndrome |
|
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Primary ... |
ORPHA:261534 |
| Aspergillosis |
|
Pleuritis, Chronic pulmonary obstruction, Intracranial hemorrhage, Dyspnea, Sinusitis, Abnormalit... |
ORPHA:1163 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal thumb morphology, Abnormal hip bone morphology, Synost... |
ORPHA:2639 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
| Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Pulmonary i... |
OMIM:614017 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage, Anemia |
OMIM:614514 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Liver abscess, Bacterial endocarditis, Co... |
ORPHA:2038 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Anemia, Chronic oral candidias... |
OMIM:616740 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Bruising susceptibility, Anemia, Increased mean corpuscular volum... |
OMIM:616216 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
| Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Thoracic aortic aneurysm, Dilated left subclavian arte... |
ORPHA:449400 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased proportion of cla... |
OMIM:619126 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
| Refractory Anemia |
|
Dyspnea, Normocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate productio... |
ORPHA:98826 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing |
OMIM:112350 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hypertension, Hyperins... |
OMIM:604367 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing |
OMIM:246570 |
| Alpha-1-Antitrypsin Deficiency |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Splenomegaly, Panacinar emphys... |
OMIM:613490 |
| Androgen Insensitivity Syndrome |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Female external geni... |
OMIM:300068 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... |
OMIM:113310 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Decreased testicular size, Premature ovarian insufficiency, Primary amen... |
OMIM:612885 |
| Tularemia |
|
Leukocytosis, Tachycardia, Skin rash, Cough, Anemia, Respiratory distress, Inflammatory abnormali... |
ORPHA:3392 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... |
OMIM:102200 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Autoimmune hemolytic anemia, A... |
OMIM:616576 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Leukocytosis, Hypotension, Cough, Pancreatitis, Arrhythmia, Cardiorespiratory arrest... |
ORPHA:188 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Cardiac arrest, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Eosinophili... |
ORPHA:139402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive secondary to ... |
ORPHA:169160 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... |
OMIM:616481 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Inflammation of the large intestine, Colitis, Recurrent pneumonia, B lymphocytopeni... |
OMIM:619281 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Atopic dermatitis, Eczema, Cerebral ... |
OMIM:243700 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Primary amenorrhea, Elevated circulatin... |
OMIM:618187 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Short metacarpal, Deformed humeral heads, Brachydactyly, Genu... |
ORPHA:2831 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... |
OMIM:615513 |
| Androgen Insensitivity Syndrome |
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Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
| Premature Ovarian Failure 11 |
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Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Microlissencephaly |
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Pneumonia |
ORPHA:1083 |
| Megalencephaly |
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Long penis, Macroorchidism |
ORPHA:2477 |
| Tracheobronchomegaly |
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Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Ciliary Dyskinesia, Primary, 26 |
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Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... |
OMIM:615500 |
| Common Variable Immunodeficiency |
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Chronic otitis media, Recurrent respiratory infections, Vasculitis, Hemolytic anemia, Restrictive... |
ORPHA:1572 |
| Cln3 Disease |
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Bradycardia, T-wave inversion, Increased circulating androgen concentration |
ORPHA:228346 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
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Dyspnea, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocy... |
ORPHA:231401 |
| Congenital Aortic Valve Stenosis |
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Abnormal T-wave, Reduced left ventricular ejection fraction, Thoracic aortic aneurysm, Abnormal p... |
ORPHA:3093 |
| Acrocapitofemoral Dysplasia |
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Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... |
OMIM:607778 |
| Vaginal Atresia |
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Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... |
ORPHA:65681 |
| T-Cell Immunodeficiency With Thymic Aplasia |
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Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Failure to thrive, Recurrent pneumonia, B... |
OMIM:242700 |
| Insulin-Resistance Syndrome Type B |
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Increased serum testosterone level, Abnormal salivary gland morphology, Abnormal circulating lept... |
ORPHA:2298 |
| X-Linked Agammaglobulinemia |
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Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Anemia, Neutropenia, Arth... |
ORPHA:47 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Colitis, B lymphocytopenia, Erythema nodosum, Recurrent respiratory infections, Recurrent pneumon... |
OMIM:614700 |
| Combined Oxidative Phosphorylation Deficiency 51 |
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Neonatal respiratory distress, Small for gestational age, Aspiration pneumonia, Respiratory failure |
OMIM:619057 |
| Sarcoidosis, Susceptibility To, 2 |
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Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... |
OMIM:612387 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Metaphyseal spurs, Metaphyseal widening, Flat acetabular roof, Dysplastic iliac wing, Irregular e... |
OMIM:608728 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Intermittent thrombocytopenia, Recurrent aphthous stomatitis, Abscess, Neutropenia, Chronic oral ... |
OMIM:150550 |
| 46,Xy Partial Gonadal Dysgenesis |
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Delayed puberty, Ambiguous genitalia, Elevated circulating follicle stimulating hormone level, Ab... |
ORPHA:251510 |
| Frasier Syndrome |
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Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... |
ORPHA:347 |
| Hodgkin Lymphoma |
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Cough, Dyspnea, Splenomegaly, Weight loss |
ORPHA:98293 |
| Polycythemia Vera |
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Gingival bleeding, Bruising susceptibility, Respiratory insufficiency, Pulmonary embolism, Hypert... |
ORPHA:729 |
| Adult Acute Respiratory Distress Syndrome |
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Vasculitis, Dyspnea, Hypotension, Pancreatitis, Hypoxemia, Abnormal blood gas level, Pulmonary ed... |
ORPHA:70578 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Bronchiectasis, Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recur... |
OMIM:615139 |
| Phace Association |
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Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid artery, Congenital ... |
OMIM:606519 |
| Eosinophilic Gastroenteritis |
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Atopic dermatitis, Leukocytosis, Hematochezia, Anemia, Eosinophilia, Allergic rhinitis, Asthma, W... |
ORPHA:2070 |
| Laryngeal Neuroendocrine Tumor |
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Exertional dyspnea, Weight loss |
ORPHA:100083 |
| Imerslund-Gräsbeck Syndrome |
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Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
| Léri-Weill Dyschondrosteosis |
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Abnormality of the humerus, Short tibia, Dorsal subluxation of ulna, Diaphyseal thickening, Radia... |
ORPHA:240 |
| Autosomal Dominant Severe Congenital Neutropenia |
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Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... |
ORPHA:486 |
| Temtamy Syndrome |
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Aortic aneurysm |
ORPHA:1777 |
| Hemochromatosis, Type 3 |
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Anemia, Cardiomyopathy, Lymphopenia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Neutro... |
OMIM:604250 |
| Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
| Pparg-Related Familial Partial Lipodystrophy |
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Oligomenorrhea, Maternal diabetes, Dysmenorrhea, Primary amenorrhea, Diabetes mellitus, Polycysti... |
ORPHA:79083 |
| Ciliary Dyskinesia, Primary, 5 |
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Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... |
OMIM:608647 |
| Meconium Aspiration Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal heart rate variability, Atelectas... |
ORPHA:70588 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Adrenal hyperplasia, Increased circulating ACTH level, Female external genitalia in individual wi... |
ORPHA:90790 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
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Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614839 |
| Granulomatosis With Polyangiitis |
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Chronic otitis media, Pleuritis, Keratitis, Hemosiderin-laden macrophages in bronchoalveolar flui... |
OMIM:608710 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Arrhythmia, Pulmonary embolism, Hypertension, Osteoarthritis, Congestive heart failure, Hypertrop... |
ORPHA:1345 |
| Ciliary Dyskinesia, Primary, 14 |
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Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... |
OMIM:613807 |
| Familial Nasal Acilia |
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Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
| Acute Lung Injury |
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Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Acute pancreati... |
ORPHA:178320 |
| Alpha-2-Plasmin Inhibitor Deficiency |
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Persistent bleeding after trauma, Bruising susceptibility, Hemothorax, Joint hemorrhage |
OMIM:262850 |
| Polyarteritis Nodosa |
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Raynaud phenomenon, Pleuritis, Cardiomyopathy, Hypertension, Abnormal lung morphology, Pericardit... |
ORPHA:767 |
| Ciliary Dyskinesia, Primary, 35 |
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Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... |
OMIM:617092 |
| Satoyoshi Syndrome |
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Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Eosinophilic Fasciitis |
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Arthritis, Fasciitis, Eosinophilia, Myositis, Abnormal eosinophil morphology, Weight loss |
ORPHA:3165 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... |
ORPHA:2975 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Hypertension, Adrenogenital syndrom... |
OMIM:202110 |
| Methemoglobinemia And Ambiguous Genitalia |
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Male pseudohermaphroditism, Micropenis, Ambiguous genitalia, Decreased circulating dehydroepiandr... |
OMIM:250790 |
| Premature Ovarian Failure 17 |
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Decreased cirrculating antimullerian hormone circulation, Decreased inhibin B level, Elevated cir... |
OMIM:619146 |
| Congenital Alpha2-Antiplasmin Deficiency |
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Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
ORPHA:79 |
| Fragile X Syndrome |
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