Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Growth delay, Recurrent pneumonia, Recurrent otitis media |
OMIM:243110 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia, Short stature, Recurrent bacterial infections, Recurrent otitis media, Recurrent res... |
OMIM:616022 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... |
OMIM:614372 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peri... |
ORPHA:131 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Neutropenia, Recurrent respiratory infec... |
OMIM:300988 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Short stature, Diarrhea, Failure to thrive in infancy, Intestinal o... |
ORPHA:388 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurr... |
OMIM:613501 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Respiratory insufficiency, Inflammation of the large intestine, Abn... |
ORPHA:26790 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Pedal edema, Weight loss, Ascites |
ORPHA:168811 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... |
OMIM:608957 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... |
OMIM:613860 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Cough, Weight loss, Dysphagia, O... |
ORPHA:70482 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:617690 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Meconium ileus, Diarr... |
OMIM:219700 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... |
ORPHA:2869 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia |
OMIM:615561 |
Whim Syndrome 2 |
|
Severe infection, Chronic neutropenia, Recurrent gingivitis |
OMIM:619407 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Us... |
OMIM:616373 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Atresia Of Small Intestine |
|
Failure to thrive, Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotat... |
ORPHA:1201 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Idiopathic Pulmonary Fibrosis |
|
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... |
ORPHA:2032 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Nausea and vomiting, Abnor... |
ORPHA:2198 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... |
OMIM:613662 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Short stature, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Parana Hard-Skin Syndrome |
|
Severe postnatal growth retardation, Respiratory insufficiency |
OMIM:260530 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Cough, Decreased D... |
OMIM:616371 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... |
OMIM:618433 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:614129 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Immunodeficiency 32B |
|
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... |
OMIM:602347 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... |
OMIM:300310 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Sepsis, Intestinal obstruction, Intestinal polypos... |
ORPHA:873 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Abdominal distention, Abdominal ... |
ORPHA:83469 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Neuroendocrine Neoplasm Of Appendix |
|
Asthma, Bowel urgency, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Consti... |
ORPHA:100079 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia |
OMIM:300299 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Secondary Short Bowel Syndrome |
|
Constipation, Steatorrhea, Small intestinal dysmotility, Diarrhea, Vomiting, Cholestasis, Weight ... |
ORPHA:95427 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Splenomegaly, Steatorrhea, Hepatic fai... |
ORPHA:75233 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... |
OMIM:620045 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Ciliary Dyskinesia, Primary, 9 |
|
Chronic otitis media, Neonatal respiratory distress, Cough, Recurrent sinusitis, Chronic rhinitis... |
OMIM:612444 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent ot... |
OMIM:613502 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Recurrent bacter... |
OMIM:202700 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Malnutrition, Dysphagia... |
ORPHA:930 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Otitis media, Eczema, Recurrent opportunistic infections, Diarrhea, Chro... |
OMIM:608971 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea, Acne |
OMIM:615363 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... |
OMIM:312863 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting |
ORPHA:168829 |
Ppoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... |
ORPHA:97278 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Hypoproteinemia, Abdominal pain, Diarrhea, Vomiting, Intestinal obst... |
OMIM:226300 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Severe infection, Eczema, Glomerulonephritis, Arthritis, Villous atroph... |
OMIM:304790 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia |
OMIM:617638 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy, Diarrhea |
OMIM:618168 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy |
OMIM:613217 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Nasal polyposis, Multiple gastric... |
OMIM:175200 |
Adenomyosis |
|
Adenomyosis, Dysmenorrhea |
OMIM:600458 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Sepsis, Vomiting, Cholestasis, Myocard... |
ORPHA:810 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Constipation, Abdominal pain, Hypopigmentation of hair, Intestinal o... |
ORPHA:897 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Art... |
ORPHA:343 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Polycystic liver dis... |
ORPHA:2924 |
Cyclic Neutropenia |
|
Sinusitis, Periodontitis, Enterocolitis, Abdominal pain, Opportunistic infection, Recurrent tonsi... |
ORPHA:2686 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Nau... |
ORPHA:65682 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Colonic Atresia |
|
Abdominal distention, Colonic atresia |
OMIM:303650 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Ovarian Fibroma |
|
Mesenteric cyst, Abdominal distention, Abdominal pain, Peritonitis, Odontogenic keratocysts of th... |
ORPHA:314473 |
Gallbladder Neuroendocrine Tumor |
|
Episodic abdominal pain, Extrahepatic cholestasis, Abdominal distention, Anorexia, Cholecystitis,... |
ORPHA:100086 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis... |
ORPHA:90003 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Whim Syndrome 1 |
|
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... |
OMIM:193670 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Oligomenorrhe... |
OMIM:615300 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... |
OMIM:619445 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Respiratory distress, Gastritis, Sepsis, Eczema, Vomiting, Pneumonia, ... |
ORPHA:37042 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... |
OMIM:618986 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Grfoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... |
ORPHA:97261 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... |
OMIM:615237 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Neutropenia, Anemia,... |
OMIM:616740 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... |
ORPHA:298 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Exocrine pancreatic insufficiency, Recurrent bronchopulmonary infections, Gastritis, Meconium ile... |
OMIM:219721 |
Malignant Atrophic Papulosis |
|
Abdominal pain, Arteritis, Nausea and vomiting, Peritonitis, Gastrointestinal infarctions, Intest... |
ORPHA:679 |
Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Chronic bronchitis, Neona... |
OMIM:615505 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... |
OMIM:615863 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... |
OMIM:618801 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... |
OMIM:615710 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... |
ORPHA:243 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... |
ORPHA:67 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice |
OMIM:613470 |
Asherman Syndrome |
|
Infertility, Episodic abdominal pain, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of ... |
ORPHA:137686 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Failure to thrive |
OMIM:613559 |
Radiation Proctitis |
|
Rectal fistula, Sepsis, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum ... |
ORPHA:70475 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Constipation, Short stature, Cachexia, Aganglionic megacolon |
ORPHA:52503 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... |
ORPHA:1876 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Somatostatinoma |
|
Constipation, Hepatomegaly, Steatorrhea, Neoplasm of the small intestine, Diarrhea, Increased cir... |
ORPHA:97283 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Recurrent infections, Neutropenia, Anemia... |
OMIM:615285 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Stomach cancer, Splenomegaly, Cachexia, Anorexia, Di... |
ORPHA:2930 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia, Gastrointestina... |
ORPHA:97286 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
Satoyoshi Syndrome |
|
Amenorrhea, Malabsorption, Hypoplasia of the uterus, Short stature, Diarrhea |
OMIM:600705 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Naso... |
ORPHA:141152 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis |
OMIM:178550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphocytopenia, T lymphoc... |
OMIM:601457 |
Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia |
OMIM:162700 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615451 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... |
ORPHA:3130 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Vomiting, Malabsorption, Intussusception, Cirrhosis, Lymphedema, Edem... |
ORPHA:90363 |
Variant Abeta2M Amyloidosis |
|
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... |
ORPHA:314652 |
Hydatidiform Mole |
|
Nausea and vomiting, Enlarged uterus, Hyperthyroidism, Menometrorrhagia |
ORPHA:99927 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Abnormal respiratory system physiology, Crackles, Acute infectious pneumo... |
ORPHA:60033 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... |
ORPHA:3032 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... |
OMIM:617092 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism |
OMIM:212840 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:222800 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Hypog... |
ORPHA:85450 |
Immunodeficiency 48 |
|
Recurrent candida infections, Eczematoid dermatitis, Splenomegaly, Pneumonia, Absence of CD8-posi... |
OMIM:269840 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... |
OMIM:619220 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abdominal pain, Small for gestational age, Abnormality of the pancreas, Cholecystitis, Elevated h... |
ORPHA:69665 |
Cystic Disease Of Lung |
|
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts |
OMIM:219600 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... |
OMIM:608184 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Congenital Hypothyroidism |
|
Sinusitis, Constipation, Abdominal distention, Macroglossia, Depressed nasal ridge, Thyroid dysge... |
ORPHA:442 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss |
ORPHA:168816 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Hypokalemia, Pancreatitis, Intussusception, Abdominal pain, Perit... |
ORPHA:90038 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media |
OMIM:300455 |
Familial Mediterranean Fever |
|
Malabsorption, Orchitis, Pancreatitis, Constipation, Splenomegaly, Skin rash, Nausea and vomiting... |
ORPHA:342 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Cleft p... |
ORPHA:247768 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Weight loss, Abnormal circulating poly... |
ORPHA:103910 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Recurrent upper respiratory tract infections, Intestinal obstruction, Recurren... |
OMIM:600802 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Severe short stature, Primary amenorrhea, Intrauterine growth retardati... |
OMIM:614851 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:235700 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... |
OMIM:614602 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Abdominal pain, Hepatic failure, Splenomegaly, Cirrhosis, Small for... |
ORPHA:567983 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... |
ORPHA:572 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Meningitis, Absent circulating B cells, Recurrent respiratory infections, Tr... |
OMIM:619707 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Recurrent bacterial infection... |
OMIM:607594 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid |
OMIM:613291 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Tracheoesophageal fistula, Abnormal intestine morphology, Neoplasm of the... |
ORPHA:2591 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... |
OMIM:612649 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Abdominal distention, Short stature, Increased hep... |
ORPHA:369 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atopic dermatitis, C... |
ORPHA:183675 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Enterocolitis, Abdominal distention, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Glucagonoma |
|
Constipation, Hepatomegaly, Steatorrhea, Diarrhea, Increased circulating prolactin concentration,... |
ORPHA:97280 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Infectious encephalitis, We... |
ORPHA:42642 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice |
OMIM:266200 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Chylous Ascites |
|
Abnormal intestine morphology, Ascites, Pancreatitis |
ORPHA:1160 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Respiratory distress, Ambiguous genitalia, male, Feeding difficulties, Bifid scrotum... |
OMIM:300219 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Ciliary Dyskinesia, Primary, 3 |
|
Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Neonatal respira... |
OMIM:608644 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Uveitis, ... |
OMIM:612387 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Constipation, Skin rash, Splenomegaly, Abdominal pain, Peritonitis, Diarrhea, Vomiting,... |
ORPHA:32960 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Malabsorption, Sinusitis, Gastroesophageal reflux, Skin rash, Abdominal pain, Respiratory... |
ORPHA:183 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... |
OMIM:209920 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615504 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... |
ORPHA:486 |
Primary Ciliary Dyskinesia |
|
Female infertility, Intestinal malrotation, Chronic otitis media, Chronic rhinitis, Nasal congest... |
ORPHA:244 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... |
ORPHA:217390 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Fat malabsorption, Ja... |
OMIM:211600 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... |
OMIM:613193 |
Benign Cephalic Histiocytosis |
|
Histiocytosis, Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... |
OMIM:608104 |
Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Respiratory insufficiency, Abnormality o... |
ORPHA:93941 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Chronic bronchitis, Recurrent infections, Pneumonia, Growth delay |
OMIM:614069 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:607080 |
Igg4-Related Aortitis |
|
Asthma, Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss |
ORPHA:449400 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... |
ORPHA:2552 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism |
OMIM:616113 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... |
OMIM:616726 |
Lipoid Proteinosis |
|
High palate, Pustule, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules... |
ORPHA:530 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Neonatal respirat... |
OMIM:613808 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency,... |
OMIM:615512 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... |
OMIM:619611 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Anorexia, Exertional dyspnea, Weight loss, Oral-pharyngeal dy... |
ORPHA:100083 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovar... |
ORPHA:1643 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Cirrhosis, Pulmonary embolism, Cholecystitis, Intestinal polypos... |
ORPHA:774 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Episodic abdominal pain, Absence of pubertal developm... |
ORPHA:785 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting, Jaundice |
ORPHA:313906 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Failure to thrive, Hepatomegaly, Constipation, Feeding difficulties, Splenomegaly, Pyloric... |
OMIM:613327 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... |
OMIM:613493 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Diarrhea, Vomiting, Vil... |
OMIM:602579 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Dysphagia, Constipation, Gastrointestinal stroma tumor |
OMIM:606764 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Abdominal pain, Nausea and vomiting, Peritonitis, Diarrhea, A... |
ORPHA:727 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... |
OMIM:613490 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain, Metrorrhagia, Peritonitis, Ovarian fibroma, Ascites, Abnorm... |
ORPHA:314478 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:614935 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Diarrhea, Hematochezia, Pituitary prolactin cell adenoma, ... |
ORPHA:913 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea, Acne |
OMIM:604931 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... |
ORPHA:922 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Abdominal pain, Peritonitis, Hypoalbuminemia, Periorbital edema, Edema, Minimal change glomerulon... |
ORPHA:656 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Q Fever |
|
Respiratory distress, Osteomyelitis, Hepatomegaly, Splenomegaly, Anorexia, Maculopapular exanthem... |
ORPHA:781 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abdominal pain, Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypo... |
ORPHA:567548 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Abdominal distention, Small for gestational age, Peritonitis, Diarrhea, Vomiting... |
ORPHA:391673 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Benign Schwannoma |
|
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology, Nasal pol... |
ORPHA:252164 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Respiratory failure requir... |
OMIM:619351 |
Porphyria, Acute Intermittent |
|
Paralytic ileus, Constipation, Abdominal pain, Respiratory paralysis, Diarrhea, Hepatocellular ca... |
OMIM:176000 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature |
ORPHA:2576 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... |
OMIM:615500 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... |
OMIM:607361 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... |
ORPHA:399805 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Abdominal cramps, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... |
OMIM:603041 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pulmonary hemorrhage, Giant platelets, Neutropenia, Pneumonia, T... |
ORPHA:238459 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Short stature, Otitis media, Sepsis, Abnormal lymphocyte morphology, Arthri... |
ORPHA:229717 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... |
OMIM:175500 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... |
OMIM:617091 |
Scedosporiosis |
|
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... |
ORPHA:449280 |
Osteootohepatoenteric Syndrome |
|
Asthma, Failure to thrive, Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, I... |
OMIM:619377 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... |
OMIM:300991 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Abdominal pain |
OMIM:134610 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... |
ORPHA:464370 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Familial Mediterranean Fever |
|
Crohn's disease, Hepatomegaly, Orchitis, Episodic abdominal pain, Splenomegaly, Abdominal pain, P... |
OMIM:249100 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Chylomicron Retention Disease |
|
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transa... |
ORPHA:71 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... |
OMIM:240300 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... |
ORPHA:77297 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Art... |
ORPHA:33110 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Short stature, Azoospermia |
OMIM:601076 |
Trichothiodystrophy 1, Photosensitive |
|
Asthma, Malabsorption, Small for gestational age, Short stature, Intestinal obstruction, Recurren... |
OMIM:601675 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Elevated circulating C-reactive protein concentration, Abdominal pain, Steatorrhea... |
ORPHA:2070 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum lep... |
OMIM:614962 |
Immunodeficiency 31C |
|
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morpholo... |
OMIM:614162 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... |
ORPHA:2235 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... |
OMIM:612692 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Castleman Disease |
|
Abdominal distention, Abdominal pain, Nausea and vomiting, Abnormality of the gastrointestinal tr... |
ORPHA:160 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Short stature, Bronchiolitis, Pneumonia, Recurrent otitis media, Red... |
OMIM:266265 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small... |
ORPHA:100025 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... |
ORPHA:53035 |
Cleft Velum |
|
Nasal regurgitation, Velopharyngeal insufficiency, Aspiration pneumonia, Poor suck, Recurrent oti... |
ORPHA:99772 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sepsis, Diarrhea, Vomiting, Myocarditis, Severe viral infection, Pneumonia,... |
ORPHA:36234 |
Felty Syndrome |
|
Sinusitis, Rhinitis, Splenomegaly, Sepsis, Recurrent urinary tract infections, Chronic otitis med... |
ORPHA:47612 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... |
ORPHA:231154 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Ileus, Failure to thrive, Constipation, Vomiting, Feeding difficulties in infancy, Aganglionic me... |
OMIM:300352 |
Whipple Disease |
|
Malabsorption, Polydipsia, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Respir... |
ORPHA:3452 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Bronchiectasis, Recurrent viral infections, Stomatitis, Recurrent gastroenteritis |
OMIM:618648 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Riddle Syndrome |
|
Pulmonary fibrosis, Short stature |
OMIM:611943 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties, Macroglossia, Short stature, Hypothyroi... |
ORPHA:95713 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Gastropa... |
OMIM:619223 |
Puerto Rican Infant Hypotonia Syndrome |
|
High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Crypto... |
OMIM:600096 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinusitis, R... |
OMIM:601495 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatomegaly, Cleft palate, Everted lower lip vermilion, Open mouth, Hepatospleno... |
OMIM:301066 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dysphagia, Respiratory insufficiency, Pancreatitis |
OMIM:618230 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... |
OMIM:614679 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Listeriosis |
|
Respiratory distress, Diarrhea, Vomiting, Myocarditis, Pneumonia, Pericarditis, Respiratory failu... |
ORPHA:533 |
Androgen Insensitivity, Partial |
|
Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogonadism, Azoospe... |
OMIM:312300 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Meckel diverticulum |
OMIM:300864 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr... |
OMIM:619126 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, B lymphocytopen... |
OMIM:301078 |
46,Xy Sex Reversal 4 |
|
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... |
OMIM:154230 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Gastrostomy tube feeding in infancy, Paralytic ileus, Failure to thrive, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Feeding difficultie... |
OMIM:616050 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Gout, Recurrent infections, Neutropenia, Anemia, Intrauterine growth retardation |
OMIM:617056 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Lymphopenia, Recurrent skin infections, Recurrent upper respiratory tract infections, Ato... |
OMIM:619752 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Chronic d... |
OMIM:614379 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Us... |
OMIM:614742 |
Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Bile duct proliferation, Cleft palate |
OMIM:603194 |
Thyroid Hemiagenesis |
|
Abdominal distention, Constipation, Macroglossia, Growth delay, Jaundice |
ORPHA:95719 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections, Liver abscess, Transient... |
OMIM:607676 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Apnea, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration ... |
OMIM:230900 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Depressed nasal bridge, Long philtrum, Congenital hypo... |
OMIM:610199 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Complete Androgen Insensitivity Syndrome |
|
|