Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... |
OMIM:605258 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... |
OMIM:301101 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arr... |
ORPHA:244 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci... |
OMIM:613490 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Inguinal hernia, Male infertility |
OMIM:261550 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
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 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Goiter |
OMIM:617577 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon... |
ORPHA:3032 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:615524 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, D... |
ORPHA:79239 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decre... |
OMIM:601163 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... |
ORPHA:2357 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Chronic bronchitis, ... |
OMIM:620356 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Alg3-Cdg |
|
Osteopenia, Abnormality of the gastrointestinal tract, Lipodystrophy, Cardiomyopathy, Macroglossi... |
ORPHA:79321 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis |
OMIM:618948 |
Aromatase Deficiency |
|
Osteopenia, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism, Thrombocytopenia, Esophageal st... |
OMIM:617053 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, R... |
OMIM:613807 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Cryptorchidism, Congenital pyloric atresia, Reduced bone mineral density, Shagreen p... |
ORPHA:2617 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... |
OMIM:616531 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Decreased skull ossification, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... |
OMIM:300991 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Splenomegaly, Pulmonary hypop... |
ORPHA:3035 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Delayed proximal femoral ep... |
ORPHA:93296 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:617468 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ... |
OMIM:208540 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnorm... |
OMIM:263210 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... |
ORPHA:90291 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intest... |
OMIM:618316 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger, Cleft palate |
ORPHA:2631 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplasia, Dysphagia, Arthrogryposis... |
OMIM:616867 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Ventricular septal defect, Cardiomegaly, Multiple prenatal fracture... |
OMIM:616897 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia,... |
OMIM:613177 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Immotile sperm... |
OMIM:614874 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Renal Tubular Dysgenesis |
|
Joint hyperflexibility, Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Craniosynostosis, Hypoplasia o... |
OMIM:200995 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia |
OMIM:602361 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect,... |
ORPHA:185 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Abnormality of the gastrointestinal tract, Primary testicular fai... |
ORPHA:85450 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture, Pulmonary hypoplasia |
OMIM:616733 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Coile... |
OMIM:620197 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart mor... |
OMIM:300978 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Flexion cont... |
OMIM:608149 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:612444 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Lip... |
OMIM:269700 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Marden-Walker Syndrome |
|
Inguinal hernia, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palat... |
OMIM:248700 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:619003 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Pulmonary hypoplasia, Recurrent fractures, Limitation of joint... |
ORPHA:1486 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99226 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Lip... |
OMIM:608594 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory sp... |
OMIM:618280 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurrent bronchitis |
OMIM:617091 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Secundum atrial septal defect, Congestive heart failure, Flexion con... |
OMIM:616866 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Increased connective tissue, High palate, Pulmona... |
OMIM:255320 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Ventricular septal defect, Overriding aorta, Cardiomegaly, Narrow palate... |
OMIM:617022 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... |
OMIM:614935 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal pro... |
OMIM:219700 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th... |
OMIM:185070 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Clef... |
ORPHA:994 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... |
ORPHA:2538 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Pulmonary... |
ORPHA:139466 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, Anal stenosis, Ventricular septal defect, Craniosynostosis, Sagittal craniosynostos... |
OMIM:617063 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Osteoporosis, Delayed ossification of carpal bones, Pulmonary h... |
OMIM:184260 |
Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong... |
ORPHA:1335 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation... |
ORPHA:250999 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, L... |
ORPHA:79328 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... |
ORPHA:779 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Hydrocele testis, Pulmonary hy... |
OMIM:145420 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recur... |
OMIM:244400 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Distal Triplication 15Q |
|
Craniosynostosis, Flexion contracture, Abnormal heart morphology, Hydrocele testis, High palate, ... |
ORPHA:314588 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2140 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hypopla... |
OMIM:608013 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Hypop... |
OMIM:312150 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal ossification involving the femoral head and neck, Cleft palate, Pu... |
ORPHA:1190 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Par... |
ORPHA:95430 |
Esophageal Atresia |
|
Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Inte... |
ORPHA:1199 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... |
ORPHA:2059 |
Greenberg Dysplasia |
|
Hepatomegaly, Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, P... |
OMIM:215140 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... |
OMIM:615842 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis |
OMIM:619607 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... |
ORPHA:3384 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... |
OMIM:608978 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Hypop... |
OMIM:253290 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Joint hyperflexibility, Pulmonary hypoplasia, Joint stiffness |
ORPHA:2655 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Abnormal bone str... |
ORPHA:86822 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... |
ORPHA:980 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... |
OMIM:202650 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Transposition of the great arteries,... |
OMIM:314390 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Microglossia, Pulmonary hypoplasia, Cleft palate |
OMIM:241800 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormal lung morphology, Abnormal lung l... |
ORPHA:141127 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Cryptorchidism, Pyloric stenosis, Anteriorly placed anus, High palate, Pulmonary hypoplasia, Pulm... |
OMIM:619148 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Cryp... |
OMIM:214100 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplas... |
ORPHA:171430 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Submucous cleft hard palate... |
ORPHA:2671 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Pneumothorax, Decreased calvarial ossification, Mitral regurgitation, He... |
OMIM:619879 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Ha... |
OMIM:269860 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cleft palate, Cystic liver disease, Bile duct proliferati... |
OMIM:612284 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral... |
ORPHA:96179 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Pagod Syndrome |
|
Omphalocele, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Abnor... |
ORPHA:991 |
Caudal Regression Syndrome |
|
Joint stiffness, Cryptorchidism, Hypertension, Pulmonary hypoplasia, Abnormal vertebral segmentat... |
ORPHA:3027 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft pal... |
ORPHA:2990 |
Fryns Syndrome |
|
Omphalocele, Meckel diverticulum, Ectopic pancreatic tissue, Ventricular septal defect, Aganglion... |
OMIM:229850 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft pala... |
OMIM:611812 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of fi... |
ORPHA:90652 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Tracheoesophageal fistula, Aplasia of the left... |
ORPHA:2437 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... |
OMIM:612530 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
Genitopatellar Syndrome |
|
Hip contracture, Cryptorchidism, Knee flexion contracture, Radioulnar synostosis, Gastroesophagea... |
ORPHA:85201 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Flexion contracture, Limitation of joint mobility, Cleft palate, Abnormal heart m... |
ORPHA:1865 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se... |
ORPHA:536471 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang... |
OMIM:161700 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia, Primary amenorrhea |
OMIM:191830 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... |
ORPHA:99050 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia, Cleft palate |
OMIM:256050 |
Nephronophthisis 2 |
|
Situs inversus totalis, Hypertension, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:602088 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia... |
ORPHA:1692 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Cryptorchidism, Dy... |
OMIM:265000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Con... |
ORPHA:83617 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Repeated pneumoth... |
ORPHA:536467 |
Tetrasomy 5P |
|
Pericallosal lipoma, Recurrent respiratory infections, Congestive heart failure, Heart murmur, Hi... |
ORPHA:3309 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defe... |
OMIM:270400 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal... |
OMIM:617925 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Hydrocele testis, High palate, Gast... |
OMIM:614080 |
Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion contracture, Achilles ten... |
OMIM:620369 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Int... |
OMIM:263520 |
Tetrasomy 9P |
|
Biliary atresia, High palate, Patent foramen ovale, Bifid uvula, Amelogenesis imperfecta, Absent ... |
ORPHA:3310 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:236500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90793 |
Lethal Congenital Contracture Syndrome 1 |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:253310 |
Achondrogenesis, Type Ia |
|
Protruding tongue, Abnormal hand bone ossification, Abnormal foot bone ossification, Unossified v... |
OMIM:200600 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Hamartoma of tongue, Cryptorchidism, Cleft palate, Lobulated tongue, Pulmonary hypop... |
OMIM:616300 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia |
OMIM:614091 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Omphalocele, Camptodactyly of finger, Malformation of the hepatic ductal plate,... |
OMIM:249000 |
Raine Syndrome |
|
Increased bone mineral density, Protruding tongue, Cleft palate, Subperiosteal bone formation, Hi... |
OMIM:259775 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... |
ORPHA:251510 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Abnormal dental en... |
ORPHA:666 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Lipodystrophy, Flexion contra... |
ORPHA:86309 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiomegaly |
OMIM:620306 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache... |
ORPHA:958 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, P... |
ORPHA:3412 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Streak ovary, Myeloid leukemia, Aganglionic megacolon, Recurrent pneumonia, Dysp... |
ORPHA:798 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Epiphyseal stippling, Abnormal cardiac septum morphology, Pulmonary hypoplas... |
OMIM:308050 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Decreased cranial base ossification, Pulmonary hypoplasia |
OMIM:151210 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroes... |
ORPHA:904 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Absent nipple, Bicuspid aortic valve, ... |
OMIM:612289 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Pulmona... |
ORPHA:2886 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft palate, Transposition of the ... |
OMIM:313850 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... |
OMIM:620025 |
Microcephaly-Micromelia Syndrome |
|
Cleft palate, Humeroradial synostosis, Pulmonary hypoplasia, Craniosynostosis |
OMIM:251230 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Pulmonary hypoplasia |
OMIM:224410 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal lung morphology, A... |
ORPHA:1708 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Hepatomegaly, Atrial septal defect, Ventricular septal defect, Interphalangeal joint... |
ORPHA:96334 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital d... |
ORPHA:818 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Generalized joint laxity, Right vent... |
OMIM:619472 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Peritonitis, Bidirectional shunt, Elevated pulmonary artery pressure, Pulmonary hy... |
OMIM:619351 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul... |
OMIM:273395 |
Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Rickets, Dysphagia, Hypo... |
OMIM:219800 |
Renal Agenesis |
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Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Restrictive Dermopathy |
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Osteopenia, Multiple joint contractures, Camptodactyly of finger, Dextrocardia, Aplasia/Hypoplast... |
ORPHA:1662 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Congenital hepatic fibrosis, Abnormal pelvis bone ossification, Esophageal atresia, ... |
ORPHA:93271 |
Oligomeganephronia |
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Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Hyper... |
ORPHA:2260 |
Orofaciodigital Syndrome Type 4 |
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Decreased testicular size, Recurrent respiratory infections, Monorchism, Camptodactyly of finger,... |
ORPHA:2753 |
Congenital Myopathy 17 |
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Respiratory tract infection, Cleft palate, Distal arthrogryposis, High palate, Pulmonary hypoplasia |
OMIM:618975 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Synostosis of joints, Pulmonary hypoplasia, Protruding tongue |
ORPHA:50945 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Male infertility, Azoospermia |
OMIM:277180 |
Renal Tubular Dysgenesis |
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Pulmonary hypoplasia, Hypotension |
OMIM:267430 |
Thanatophoric Dysplasia, Type I |
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Pulmonary hypoplasia |
OMIM:187600 |
Noonan Syndrome 1 |
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Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular... |
OMIM:163950 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Prima... |
ORPHA:90797 |
Atelosteogenesis Type Ii |
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Bilateral cleft palate, Elbow flexion contracture, Cleft palate, Pulmonary hypoplasia, Camptodact... |
ORPHA:56304 |
Renal Agenesis, Bilateral |
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Pulmonary hypoplasia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:1848 |
Achondroplasia |
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Generalized joint laxity, Limited elbow extension, Limited hip extension, Pulmonary hypoplasia |
OMIM:100800 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Inguinal hernia, Block vertebrae, Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... |
ORPHA:49 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Elbow contracture, Camptodactyly of finger, Cryptorchidism, High, narrow palate,... |
OMIM:208150 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Congenital diaphragmatic hernia, Hamartoma of tongue, Cleft palate, Pulmonary hypoplasia, Atrial ... |
OMIM:616546 |
Lethal Congenital Contracture Syndrome 9 |
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Elbow extension contracture, Ankylosis, Flexion contracture, Congenital contracture, Pulmonary hy... |
OMIM:616503 |
Mckusick-Kaufman Syndrome |
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Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, Anal atresia |
OMIM:236700 |
Genitopatellar Syndrome |
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Hip contracture, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small b... |
OMIM:606170 |
Acrorenal-Mandibular Syndrome |
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Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow palate, High pa... |
OMIM:200980 |
Joubert Syndrome 21 |
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Splenomegaly, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal heart morphology, Abn... |
OMIM:219000 |
Restrictive Dermopathy 1 |
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Limb joint contracture, Ankylosis, Flexion contracture, Submucous cleft hard palate, Decreased ca... |
OMIM:275210 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin... |
OMIM:256520 |
Fraser Syndrome |
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Omphalocele, Anal stenosis, Cryptorchidism, Abnormal lung lobation, Ectopic anus, High palate, Pu... |
ORPHA:2052 |
Pallister-Killian Syndrome |
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Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... |
OMIM:601803 |
Microphthalmia, Syndromic 1 |
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Bicuspid aortic valve, Aganglionic megacolon, Cryptorchidism, High, narrow palate, Rectal prolaps... |
OMIM:309800 |
Ulbright-Hodes Syndrome |
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Cryptorchidism, Pneumothorax, Humeroradial synostosis, High palate, Pulmonary hypoplasia |
ORPHA:3404 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Craniofacial Microsomia 1 |
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Ventricular septal defect, Block vertebrae, Cleft palate, Pulmonary hypoplasia, Tetralogy of Fallot |
OMIM:164210 |