| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Choroideremia |
|
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Myopia, Nyctalop... |
ORPHA:180 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Nyctalopia |
ORPHA:1872 |
| Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, A... |
ORPHA:65681 |
| Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Achromatopsia |
|
Retinal pigment epithelial atrophy, Monochromacy, Abnormal macular morphology, Retinal pigment ep... |
ORPHA:49382 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology |
ORPHA:3411 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... |
ORPHA:754 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... |
ORPHA:168563 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... |
OMIM:616648 |
| Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Abnormality of the ovary, Ascites, Peritonitis, Abnormal endometrium morph... |
ORPHA:314478 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... |
OMIM:194072 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
| Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
| Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:613313 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... |
OMIM:619151 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... |
OMIM:400045 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ... |
ORPHA:1215 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
| Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly |
OMIM:602390 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
| Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
| Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... |
ORPHA:320401 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... |
ORPHA:352731 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
| Beta-Thalassemia |
|
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... |
ORPHA:848 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
| Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:615300 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
| Achromatopsia 2 |
|
Hemeralopia, Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Photophobia, Achromatop... |
OMIM:216900 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... |
OMIM:619463 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... |
OMIM:601152 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Omodysplasia 2 |
|
Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis |
OMIM:164745 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus |
ORPHA:247768 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... |
OMIM:617394 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly,... |
ORPHA:1655 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
| Duplication Of Urethra |
|
Penile hypospadias, Bifid scrotum, Urethral stricture, Epispadias, Hypospadias, Micropenis, Septa... |
ORPHA:237 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... |
OMIM:154230 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
| Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of the uterus, Crypto... |
ORPHA:2470 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... |
ORPHA:432 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells... |
OMIM:613673 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the uterus, Hypospadias, Abnormality of the urethra, Bicornuate uterus |
ORPHA:2438 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Hypogonadism, Increased HbA2 hemoglobin, Jau... |
ORPHA:231222 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
OMIM:256600 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Aplasia of the vagina, Uterus didelphys, Aplasia of the uterus |
OMIM:146255 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... |
ORPHA:90796 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abnormality of soma... |
ORPHA:52368 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
| Oculocutaneous Albinism Type 1A |
|
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... |
ORPHA:79431 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... |
ORPHA:485421 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly |
OMIM:613027 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Splenomegaly, Hepatomegaly, Intrahepatic cholestasis |
OMIM:235555 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Congenital posterior urethral valve, Decreased testicular size, Abnorma... |
ORPHA:2970 |
| Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Longitudinal vaginal septum, Uterus didelphys, Micropenis, Chordee |
OMIM:140000 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
| Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... |
OMIM:229300 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... |
OMIM:613812 |
| Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... |
ORPHA:35069 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... |
ORPHA:131 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... |
OMIM:607765 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
| Meacham Syndrome |
|
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Accessory spleen, S... |
OMIM:608978 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Bicornuate uter... |
ORPHA:93111 |
| Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Hydrocele testis, Shawl scrotum |
OMIM:145420 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Abnormality of visual evoked potentials, Abnormal amplitude of flash visual... |
ORPHA:168491 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... |
OMIM:231550 |
| Micro Syndrome |
|
Abnormality of visual evoked potentials, Retinal coloboma, Optic atrophy, Abnormality of retinal ... |
ORPHA:2510 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... |
ORPHA:206443 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ambiguous genitalia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis |
ORPHA:243 |
| Microsporidiosis |
|
Lymphadenitis, Abnormal fallopian tube morphology, Decreased proportion of CD4-positive helper T ... |
ORPHA:2552 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... |
ORPHA:288 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Septate vagina, Uterus didelphys, Aplasia of the uterus |
ORPHA:2237 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonadal dysgenesis, Hypoplasia o... |
OMIM:618419 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Biliary tract abnormality, Epidid... |
OMIM:137920 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309256 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309263 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicornuate uterus, Labial hypoplasia, Septate vagina, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... |
ORPHA:206436 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Cryptorchidism, Bicornuate uterus |
OMIM:264480 |
| Pagod Syndrome |
|
Ambiguous genitalia, Abnormal testis morphology, Agonadism, Abnormality of the uterus, Female pse... |
ORPHA:991 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male... |
ORPHA:90793 |
| Mosaic Trisomy 9 |
|
Abnormal fallopian tube morphology, Asplenia, Abnormal liver lobulation, Hypoplasia of penis, Hyp... |
ORPHA:99776 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... |
OMIM:618820 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Bicornuate uterus, Hypoplastic labia minora, Hypoplastic labia majora, Hepatoblastoma, Hypospadia... |
OMIM:269150 |
| Fryns Syndrome |
|
Hypospadias, Cryptorchidism, Bicornuate uterus |
ORPHA:2059 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Hypospadias, Cryptorchidism, Enlarged ovaries |
ORPHA:2745 |
| Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
| Smith-Lemli-Opitz Syndrome |
|
Ambiguous genitalia, Precocious puberty, Splenomegaly, Cirrhosis, Cholestatic liver disease, Bifi... |
OMIM:270400 |
| Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of the liver, Abnormal preputium morphology, Hypogonadism, Abnorm... |
ORPHA:84 |
| Alg9-Cdg |
|
Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Hypoplasia of the ovary, Hepatomegaly, H... |
ORPHA:79328 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo... |
OMIM:241080 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee |
OMIM:309801 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:168558 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:289548 |
| Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Abnorm... |
ORPHA:309271 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Uterus didelphys, Bicornuate uterus |
OMIM:200980 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus |
ORPHA:140952 |
| White-Sutton Syndrome |
|
Rod-cone dystrophy, Abnormality of visual evoked potentials, Optic nerve hypoplasia |
OMIM:616364 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... |
OMIM:614527 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Woodhouse-Sakati Syndrome |
|
Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu... |
ORPHA:3464 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Micropenis |
OMIM:617925 |
| Bartsocas-Papas Syndrome 1 |
|
Ambiguous genitalia, Bicornuate uterus, Bilateral cryptorchidism, Absent external genitalia, Hypo... |
OMIM:263650 |
| Fryns Syndrome |
|
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Polysplenia, Ectopic pancreatic tissue, Hypospad... |
OMIM:229850 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:79330 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Cy... |
ORPHA:322 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Endometriosis, Hypospadias, Micropenis |
ORPHA:363444 |
| Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology |
ORPHA:3440 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Bicornuate uterus, Hypoplasia of penis, Female pseudoherma... |
ORPHA:2052 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Accessory spleen, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Bicornuate uterus, Pulmonary lymphangiectasia, Hypospadias, Annular pancreas, Right ven... |
OMIM:265380 |
| Fraser Syndrome 1 |
|
Bicornuate uterus, Abnormality of the thymus, Vaginal atresia, Hypospadias, Cryptorchidism, Micro... |
OMIM:219000 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse |
OMIM:130050 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, male, Ma... |
OMIM:249000 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... |
OMIM:201750 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia of the ovary, Agonadism, Non-obstructive azoospermia, Hypergonadotropic hypogonadism, Cry... |
ORPHA:2232 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
| Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Retinal pigment epithelial m... |
OMIM:216400 |
| Hermansky-Pudlak Syndrome |
|
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism |
ORPHA:79430 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:3138 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Bicornuate uterus, Shawl scrotum, Small scrotum, Micropenis |
OMIM:181450 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, Urethral valve, ... |
OMIM:107480 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
ORPHA:572333 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormal... |
OMIM:133540 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Fetal ascites, Chole... |
OMIM:619503 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Unilateral cryptorchidism, Aplasia of the ut... |
OMIM:618280 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Anemia, Micropenis, Bone marrow hypocellularity |
OMIM:614083 |
| Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:512 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypoplasia of the thymus, Abnormality of the uterus, Hypospadias, Abnormality of ... |
ORPHA:567 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Anemia, Hepatosplenomegaly, Aplasia of the uterus, Eosinophilia, Leukocytosis, ... |
OMIM:274000 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Cryptorchidism, Uterus didelphy... |
ORPHA:93271 |
| Roberts-Sc Phocomelia Syndrome |
|
Enlarged labia minora, Bicornuate uterus, Long penis, Biliary tract abnormality, Hypospadias, Acc... |
OMIM:268300 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Clitoral hypoplasia, Bi... |
OMIM:261540 |
| Cowden Syndrome |
|
Abnormality of the uterus, Enlarged polycystic ovaries, Endometrial carcinoma, Abnormal penis mor... |
ORPHA:201 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse |
ORPHA:286 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus |
ORPHA:709 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Biliary tract abnormality, Aplasia of the uterus, Hypospadias, Accessory sple... |
OMIM:194190 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Rectoperineal fistula, Hypoplasia of penis, Abnormality of the uterus, Hypospadias... |
ORPHA:857 |
| Cornelia De Lange Syndrome |
|
Hypoplastic labia majora, Hypoplasia of penis, Abnormality of the uterus, Hypospadias, Cryptorchi... |
ORPHA:199 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Anemia, Precocious puberty, Cryptorchidism |
ORPHA:438213 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism |
OMIM:135900 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Uterine prolapse |
ORPHA:284984 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum |
OMIM:276820 |
| Loeys-Dietz Syndrome 3 |
|
Left ventricular hypertrophy, Cystocele, Uterine prolapse |
OMIM:613795 |
| Pallister-Killian Syndrome |
|
Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of the uterus, ... |
OMIM:601803 |
