| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Placental Insufficiency |
|
Abnormal placenta morphology, Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord bl... |
ORPHA:439167 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Edema, Rocker bottom foot, Intrauterine growth retardation |
OMIM:616570 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Oligohydramnios, Small placenta, Postnatal growth retardation, Crypto... |
ORPHA:397590 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Small... |
ORPHA:73272 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Postnatal growth retardation, Umbilical hernia, Large placenta |
ORPHA:254534 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Microphthalmia With Limb Anomalies |
|
Growth delay, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fin... |
OMIM:206920 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegal... |
OMIM:300400 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Hydrolethalus |
|
Anencephaly, Anophthalmia, Arrhinencephaly, Micromelia, Postaxial hand polydactyly, Polyhydramnio... |
ORPHA:2189 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Trisomy 13 |
|
Ectrodactyly, Hydrops fetalis, Anophthalmia, Postaxial hand polydactyly, Microphthalmia, Aplasia/... |
ORPHA:3378 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Crypto... |
OMIM:208150 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia, Deviation of finger |
ORPHA:1104 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Short umbilical cord, Bifid uterus, Hydranencephaly, Small place... |
OMIM:256520 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Trisomy 1Q |
|
Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Anophthalmia, Polyhydramnios, Increased... |
ORPHA:261344 |
| Fibular Hemimelia |
|
Abnormality of fibula morphology, Genu valgum, Disproportionate prominence of the femoral medial ... |
ORPHA:93323 |
| Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Leukopenia, P... |
OMIM:617053 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, ... |
ORPHA:254528 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement of thumb, Finger syn... |
ORPHA:139471 |
| Solitary Median Maxillary Central Incisor |
|
Short stature, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Polyhydramnios, Microphthalmia, Spina bi... |
ORPHA:3412 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Restrictive Dermopathy |
|
Hypospadias, Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of ... |
ORPHA:1662 |
| Mosaic Trisomy 16 |
|
Single umbilical artery, Hypospadias, Preeclampsia, Maternal diabetes, Intrauterine growth retard... |
ORPHA:1708 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Jaundice, Hypoplasia of the thymus, Cryptorchidism, Intrahepatic biliary dysgenesis |
OMIM:214110 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H... |
OMIM:612541 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Kagami-Ogata Syndrome |
|
Polyhydramnios, Postnatal growth retardation, Premature birth, Large placenta |
ORPHA:254519 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Neutropenia, Hepato... |
ORPHA:699 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Microphthalmia |
ORPHA:899 |
| Greenberg Dysplasia |
|
Disproportionate short-limb short stature, Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydr... |
OMIM:215140 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Cirrhosis... |
OMIM:269200 |
| Syndromic Diarrhea |
|
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Inc... |
ORPHA:84064 |
| Trichohepatoenteric Syndrome 1 |
|
Short stature, Hypospadias, Abnormalities of placenta or umbilical cord, Polyhydramnios, Intraute... |
OMIM:222470 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, 3-4 finger syndactyly, Rhizomelia, Microphthalmia |
OMIM:615877 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Talipes equinovarus, Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Umbilical ... |
ORPHA:1101 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Mild postnatal growth retardation, Chylous ascites, Palpebral edema, N... |
OMIM:265300 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis |
OMIM:615415 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Anophthalmia, Arrhi... |
ORPHA:2538 |
| 14Q22Q23 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Anophthalmia, Short foot, Short... |
ORPHA:264200 |
| Meckel Syndrome |
|
Oligohydramnios, Anencephaly, Anophthalmia, Postaxial hand polydactyly, Postaxial foot polydactyl... |
ORPHA:564 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Meckel Syndrome, Type 1 |
|
Breech presentation, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitali... |
OMIM:249000 |
| Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Stillbirth, Hypospadias, Short umbilical cord, Neonatal death, Sp... |
OMIM:275210 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Hypopla... |
OMIM:156810 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Chylothorax, Severe short stature, Anophthalmia, Lymphedema, Pleural effusion, Edema |
ORPHA:2526 |
| Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Postnata... |
OMIM:605627 |
| Microphthalmia, Syndromic 3 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Postnatal growth retardation... |
OMIM:206900 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,... |
ORPHA:227982 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... |
OMIM:208900 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci... |
OMIM:240300 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Sandal gap, Bowing of the long bones, Microphthalmia, Clinodactyly of the 5th ... |
ORPHA:1106 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Type I diabetes mellitus, Hashimoto thyr... |
ORPHA:436252 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia |
ORPHA:90321 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem... |
ORPHA:227990 |
| Holoprosencephaly |
|
Microphthalmia, Anophthalmia, Brachydactyly, Spinal dysraphism, Branchial anomaly, Hand polydacty... |
ORPHA:2162 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... |
ORPHA:906 |
| Charge Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Anophthalmia, Brachydactyly, Abnormality of tibia ... |
ORPHA:138 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Microphthalmia, Anophthalmia, Short phalanx of finger, Postaxial hand polydacty... |
OMIM:305600 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Abnormality of the adrenal glands, Patent ductus arteriosus, Thyroid hy... |
ORPHA:861 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint of the 3rd toe, 2... |
OMIM:300166 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Abno... |
ORPHA:567 |
| Holoprosencephaly 9 |
|
Short stature, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Microphthalmia |
OMIM:610829 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Postnatal growth retardation, External genital hypoplasia, Short stature, Polyhydramnios, Spinal ... |
ORPHA:96334 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
| Digeorge Syndrome |
|
Cholelithiasis, Hydrocele testis, Decreased circulating parathyroid hormone level, Splenomegaly, ... |
OMIM:188400 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop... |
OMIM:102700 |
| Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Polyhydramnios, Gonadoblastoma, Umbilical hernia, Cryptorchidism, Prema... |
ORPHA:116 |
| Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia |
OMIM:164280 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
| Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Asplenia |
OMIM:617746 |
| Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
| Right Atrial Isomerism |
|
Polysplenia, Abdominal situs ambiguus, Asplenia |
OMIM:208530 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Patent ductus arteriosus, Asplenia |
ORPHA:210122 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Asplenia, Abdominal situs inversus |
OMIM:619123 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Anophthalmia, Bilateral microphthalmos, Cutaneous finger syndactyly, Encephaloc... |
OMIM:219000 |
| Charge Syndrome |
|
Absent tibia, Bilateral talipes equinovarus, Hand polydactyly, Anophthalmia, Arrhinencephaly, Uni... |
OMIM:214800 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Growth delay, Severe short stature, Anophthalmia, Microphthalmia |
ORPHA:2556 |
| Primary Ciliary Dyskinesia |
|
Polysplenia, Asplenia |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Fraser Syndrome |
|
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele, Finger syndactyl... |
ORPHA:2052 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Cryptorchidism, Patent ductus arteriosus, Asplenia |
ORPHA:99776 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Lead Poisoning |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... |
ORPHA:330015 |
| Branchiooculofacial Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Anophthalmia, Short thumb, Branchial anomaly, Pro... |
OMIM:113620 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
| Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortical abnormality |
ORPHA:3384 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Asplenia |
OMIM:619657 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism |
OMIM:264090 |
| Microphthalmia, Syndromic 6 |
|
Flexion contracture of thumb, Clinodactyly of the 5th finger, Anophthalmia, Polydactyly, Brachyda... |
OMIM:607932 |
| Monosomy 22 |
|
Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus |
ORPHA:96123 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Biliary atresia, Abdominal situs inversus, Patent ductus arteriosus, Polysplenia, A... |
OMIM:306955 |
| Microphthalmia, Syndromic 1 |
|
Prominent fingertip pads, Anophthalmia, Syndactyly, Camptodactyly, Clinodactyly, Microphthalmia, ... |
OMIM:309800 |
| Craniofacial Microsomia |
|
Microphthalmia, Partial duplication of thumb phalanx, Anophthalmia, Genu valgum, Branchial anomal... |
OMIM:164210 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Pulmonary lymphangiectasia, Patent ductus arteriosus, Asplenia |
OMIM:265380 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Abdominal situs ambiguus, Asplenia, Abdominal situs inversus |
OMIM:270100 |
| Pseudoaminopterin Syndrome |
|
Cryptorchidism, Asplenia |
ORPHA:221120 |
| Proteus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neoplasm, Thymus... |
ORPHA:744 |
| Mowat-Wilson Syndrome |
|
Hydrocele testis, Cryptorchidism, Patent ductus arteriosus, Asplenia |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hydrocele testis, Cryptorchidism, Patent ductus arteriosus, Asplenia |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hydrocele testis, Cryptorchidism, Asplenia |
ORPHA:261537 |
