| Polycystic Ovary Syndrome 1 |
|
Hirsutism, Enlarged polycystic ovaries |
OMIM:184700 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... |
ORPHA:42665 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Hirsutism, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycy... |
ORPHA:90301 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Abnormal heart morphology, Alopecia, Aplasia/Hypoplasia of the iri... |
ORPHA:1067 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Hirsutism, Hypertrichosis, Long penis, Hypokalemia, Low anterior hairl... |
ORPHA:769 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating... |
OMIM:615234 |
| Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Abnormality of secondary sexual hair, Macroorchidism, pos... |
ORPHA:91348 |
| Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Hyperpigmentation of the skin, Anemia, Elev... |
OMIM:613313 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Iris ... |
ORPHA:79477 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Hirsutism, Leukopenia, Abnormal circulating lipid concentrati... |
ORPHA:2298 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Alopecia, Anemia, Splenomegaly, Premature ovarian insuffi... |
ORPHA:100025 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Increased serum iron, Ascites, Hepatocellular carcinoma, Azoosp... |
OMIM:235200 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hyperlipidemia, Osteoporosis, Ambiguous genitalia, female, Delayed ... |
ORPHA:91 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... |
OMIM:601706 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Hypopigmentation of the skin, Spleno... |
OMIM:269920 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis |
OMIM:269600 |
| Estrogen Resistance Syndrome |
|
Osteoporosis, Delayed epiphyseal ossification, Increased circulating gonadotropin level, Osteopen... |
ORPHA:785 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Polycystic ovaries, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic ... |
ORPHA:2228 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... |
OMIM:619165 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Polycystic ovaries, Hypopla... |
ORPHA:90796 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Dilated cardiomyopathy, Azoospermia, Hypogonadotropic hypogon... |
OMIM:602390 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Hirsutism, Ascites, Increased circulating gonadotropin level, Enlarged ... |
ORPHA:64739 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig... |
ORPHA:3214 |
| Waardenburg Syndrome, Type 2A |
|
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... |
OMIM:193510 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... |
OMIM:603552 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
| Familial Hyperprolactinemia |
|
Osteoporosis, Female hypogonadism, Hemorrhagic ovarian cyst, Osteopenia |
ORPHA:397685 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... |
OMIM:613673 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
| Leprechaunism |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypertrichosis, Long penis, Hypokalemia, Enlarged ovar... |
ORPHA:508 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Griscelli Syndrome |
|
Hypopigmented skin patches, Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Abnormal circulat... |
ORPHA:381 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
| Peutz-Jeghers Syndrome |
|
Melanonychia, Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic a... |
ORPHA:2869 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... |
ORPHA:98973 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly |
OMIM:618541 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Polycystic ovaries, Hirsutism |
OMIM:608709 |
| Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Bone cyst, Hypertrichos... |
ORPHA:528 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Ventricular septal defect, Bifid scrotum, Enlarged ovaries, Abnormal heart morpholog... |
ORPHA:2745 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Heterochromia iridis, White forelock, Hypopigmentation of hair, Prema... |
ORPHA:895 |
| Proteus Syndrome |
|
Limbal dermoid, Mandibular hyperostosis, Thin bony cortex, Depigmentation/hyperpigmentation of sk... |
OMIM:176920 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hirsutism, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegal... |
OMIM:612526 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Dense calvaria, Splenomegaly, Asymmetric sept... |
OMIM:252920 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin |
ORPHA:2786 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
| Galactosemia Iii |
|
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly |
OMIM:230350 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Increased... |
OMIM:618892 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:79238 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Hyperpigmentation of the skin, Anemia, Splenomegaly |
ORPHA:75563 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Corneal opacity, Abnormal... |
ORPHA:93476 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Abnormality of skin pigm... |
ORPHA:1414 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... |
OMIM:221900 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair |
ORPHA:79476 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Ascites, Thickened cortex of long bones, Cardiomegaly, Co... |
OMIM:253250 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... |
OMIM:613101 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Long eyelashes, Hyperalaninemia, Hyperprolinemia, Synophrys |
OMIM:619064 |
| Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly, Corneal opa... |
ORPHA:79292 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Splenomegaly... |
ORPHA:59303 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... |
ORPHA:177910 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Gonadotropin deficiency, Cholestasis, Adrenocorticotropic hormone deficiency,... |
OMIM:609734 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Proteus-Like Syndrome |
|
Limbal dermoid, Thymus hyperplasia, Hyperostosis, Polycystic ovaries, Splenomegaly, Heterochromia... |
ORPHA:2969 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:255120 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... |
OMIM:616278 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... |
OMIM:256550 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Hirsutism, Mitral valve prolapse, Osteolysis in... |
ORPHA:371428 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... |
OMIM:619658 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... |
ORPHA:848 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Rudiger Syndrome |
|
Hypoplastic fingernail, Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
| Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ascites, Lymphadenopathy, Cardiomegaly, Anemia... |
ORPHA:858 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair, Positive ferric chloride test |
OMIM:250900 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Generalized bronze hyperpigmen... |
ORPHA:465508 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... |
ORPHA:79301 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
| Ataxia-Telangiectasia |
|
Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the thymus, Mu... |
ORPHA:100 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Abnormal... |
ORPHA:2930 |
| Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Alop... |
OMIM:603554 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Elevated circulating... |
ORPHA:85414 |
| Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Alopec... |
ORPHA:2584 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Developmental cataract, Right ventricular hypertrophy,... |
ORPHA:335 |
| Proteus Syndrome |
|
Ovarian neoplasm, Buphthalmos, Thymus hyperplasia, Generalized hyperpigmentation, Neoplasm of the... |
ORPHA:744 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... |
ORPHA:33445 |
| Cowden Syndrome |
|
Hypopigmented skin patches, Bone cyst, Abnormal penis morphology, Goiter, Endometrial carcinoma, ... |
ORPHA:201 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroe... |
OMIM:212140 |
| Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... |
OMIM:612109 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... |
ORPHA:352731 |
| Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Ovarian neoplasm, Lymphadenopathy, Abnormal eyebrow morphology, Generalized hirsutism,... |
ORPHA:2221 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Cystic Echinococcosis |
|
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cys... |
ORPHA:400 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia |
ORPHA:280356 |
| Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Jaundice |
ORPHA:75234 |
| Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... |
ORPHA:209959 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Po... |
OMIM:615631 |
| Tangier Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Left ventric... |
OMIM:205400 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Anemia, Aplasia/Hyp... |
ORPHA:290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Hirsutism, Elevated circulati... |
ORPHA:95699 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Elevated circulating c... |
ORPHA:370 |
| Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Polycystic ovaries, Cataract, Hypergonadotropic hypogonadism... |
ORPHA:3085 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
ORPHA:101082 |
| Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Sparse... |
OMIM:228300 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hirsutism, Coarse hair, Dense calvaria, Splenomegaly, Asymmetric septal hypertrophy... |
OMIM:252900 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Polycystic ovar... |
ORPHA:435660 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepati... |
ORPHA:2348 |
| Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... |
ORPHA:275555 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... |
OMIM:211600 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hirsutism, Polycystic ovaries, Hyperuricemia, Cirrhosis,... |
OMIM:604367 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
| Poikiloderma With Neutropenia |
|
Conjunctivitis, Neutropenia, Elevated circulating creatine kinase concentration, Splenomegaly |
OMIM:604173 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... |
ORPHA:894 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine... |
OMIM:201475 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Generalized hyperpigmentation, Abnormal circulating lipid concentration, Unicameral... |
ORPHA:79086 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Ascites, Increased circulating galectin-3 level, Cardiomeg... |
ORPHA:57777 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Elevated circulating C-reactive protein concentration,... |
ORPHA:158057 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Osteoporosis, Cardiomegaly, Curly eyelashes, Long ey... |
OMIM:239850 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... |
ORPHA:615 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Polycystic ovaries, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79085 |
| Elejalde Disease |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:256710 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Bilateral cryptorchidism, Atrial septal ... |
OMIM:618652 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
| Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Atrial septal defect, Abnormal an... |
ORPHA:96125 |
| Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Cataract, Sparse sca... |
ORPHA:3437 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrho... |
ORPHA:79083 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... |
ORPHA:85451 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Elevated circulating creatine kinase concentrati... |
ORPHA:264580 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... |
OMIM:612840 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... |
OMIM:214500 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... |
ORPHA:897 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale |
OMIM:601005 |
| Squalene Synthase Deficiency |
|
Hypospadias, Bicuspid aortic valve, Hypocholesterolemia, Increased circulating farnesol concentra... |
OMIM:618156 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly |
OMIM:611762 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
| Mccune-Albright Syndrome |
|
Goiter, Fibrous dysplasia of the bones, Hepatitis, Hypophosphatemia, Monostotic fibrous dysplasia... |
ORPHA:562 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber |
ORPHA:280914 |
| Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
OMIM:160565 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Hyperpigmentation of the skin, Hypopigmentation of the... |
ORPHA:158029 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:617441 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Cataract, Elevated levels of phytanic acid |
OMIM:266500 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased ... |
OMIM:613011 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... |
ORPHA:98848 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Hirsutism, Long penis, Hypokalemia, Decreased circulating renin le... |
ORPHA:90795 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Hyperparathyroidism |
OMIM:618107 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice |
OMIM:608885 |
| Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... |
ORPHA:79240 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... |
OMIM:609993 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:182900 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Osteoporosis, Splenomegaly, Corneal opacity |
ORPHA:87876 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... |
OMIM:611490 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hypertriglycer... |
ORPHA:435651 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
ORPHA:42 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Subcapsular cataract, Pigmentary retinopathy,... |
OMIM:268020 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Increased circulating ferritin concentration, ... |
OMIM:618886 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:616649 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Hyperbilirubine... |
OMIM:607765 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
| Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... |
OMIM:618398 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Abnormal heart morphology, Intrahepatic biliary dysgenesis, B... |
OMIM:614866 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Hypospadias, Cryptorchidism, Fair hair, Red hair |
OMIM:614613 |
| Beta-Thalassemia Intermedia |
|
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... |
ORPHA:231222 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... |
ORPHA:3440 |
| Primary Lipodystrophy |
|
Hyperlipidemia, Polycystic ovaries, Pancreatitis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepati... |
ORPHA:90970 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Cardiac myxoma, Hirsutism, Freckling, Pituitary adenoma, Profuse ... |
OMIM:160980 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Abnormality of skin pigmentation, Reduced bone mineral density, Splenomega... |
ORPHA:834 |
| Idiopathic Panuveitis |
|
Conjunctival hyperemia, Choroidal neovascularization, Posterior synechiae of the anterior chamber... |
ORPHA:280921 |
| Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Hypogonadism, Whi... |
OMIM:613266 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Pituitary hypothyroidism, Hypopigmentation of the skin, Gonadotropin deficiency, Cholestasis, Dec... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Pituitary hypothyroidism, Hypopigmentation of the skin, Gonadotropin deficiency, Cholestasis, Dec... |
ORPHA:71526 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Alopecia of scalp, Splenomegaly, Hypogonadism, Paronychia, Decreased testicular size |
OMIM:201100 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Uveitis, Pancytopenia, ... |
OMIM:615122 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Nodular regenerative h... |
ORPHA:64743 |
| Intermediate Uveitis |
|
Band keratopathy, Posterior synechiae of the anterior chamber, Cataract, Anterior uveitis |
ORPHA:279914 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... |
ORPHA:158061 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Posterior uveitis, No... |
ORPHA:91500 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Uveitis, Hypereosinop... |
OMIM:617388 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Hepatospleno... |
OMIM:602782 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Calvarial hyperostosis, Exocrine pancre... |
OMIM:612714 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
| Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Hypoplasia of the thymus, Brittle hair, Splenomegaly, Woolly hair, Ventric... |
ORPHA:84064 |
| Donohue Syndrome |
|
Hypertrichosis, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertr... |
OMIM:246200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... |
OMIM:267700 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
| Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... |
ORPHA:829 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Hyperammonemia, Th... |
ORPHA:79312 |
| Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Abnormal reproductive system morphology, Abnormal heart morphology, ... |
ORPHA:70472 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract |
ORPHA:3137 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Hypoplastic toenails, Abnormal fingernail morphology, Cryptorchidism, Hypopla... |
ORPHA:1580 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Polycystic ov... |
ORPHA:280365 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... |
ORPHA:363705 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
| Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi... |
OMIM:203100 |
| Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Ker... |
OMIM:229200 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Polycystic ovaries, Alopecia, Abnormal testis morphology, Mult... |
ORPHA:457059 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... |
OMIM:115197 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Hypertricho... |
ORPHA:1655 |
| Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Hypercalcemia, Precocious puberty in females, Thin bony cortex, Rickets, Fibrou... |
ORPHA:249 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Posterior subcapsular cataract, Granular macular appearance,... |
ORPHA:364055 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Neutropenia, Hirsutism, Leukopenia, Low anterior hairl... |
OMIM:617303 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Melanocytic nevus, ... |
ORPHA:79434 |
| Naxos Disease |
|
Dilated cardiomyopathy, Onycholysis, Nail dystrophy, Abnormal morphology of right ventricular tra... |
OMIM:601214 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Low anterior hairline, Curly eyelashes, Osteoporosis, Cardiomegaly, ... |
ORPHA:1517 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
| Porphyria, Congenital Erythropoietic |
|
Hypertrichosis, Corneal scarring, Hyperpigmentation of the skin, Alopecia, Absent eyebrow, Cholel... |
OMIM:263700 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... |
OMIM:278000 |
| Mogs-Cdg |
|
Hepatomegaly, Hirsutism, External genital hypoplasia, Cardiomegaly, Alopecia, Long eyelashes, Lef... |
ORPHA:79330 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ele... |
OMIM:608836 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Reduced natural kille... |
OMIM:609981 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hirsutism, Coarse hair, Dense calvaria, Splenomegaly, Asymmetric septal hypertrophy... |
OMIM:252930 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hirsutism, Polycystic ovaries, Labial hypertrophy, Ven... |
OMIM:269700 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Cardiomyopathy, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased seru... |
OMIM:619046 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... |
OMIM:109270 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis |
ORPHA:391 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Conjunctivitis |
OMIM:240500 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... |
OMIM:606003 |
| Sézary Syndrome |
|
Hepatomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyte morphology, Alopecia, Splenome... |
ORPHA:3162 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hirsutism, Polycystic ovaries, Labial hypertrophy, Cardiomyopathy, Splenomegaly, Ci... |
OMIM:608594 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries, Hirsutism |
ORPHA:2795 |
| Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatos... |
ORPHA:167 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... |
ORPHA:79431 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
| Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Macroorchidism, Polycystic ovaries, Sparse hair |
ORPHA:284180 |
| X-Linked Recessive Ocular Albinism |
|
Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Giant ... |
ORPHA:54 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
| Zimmermann-Laband Syndrome |
|
Hepatomegaly, Generalized hyperpigmentation, Abnormal external genitalia, Facial hypertrichosis, ... |
ORPHA:3473 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolyti... |
OMIM:228000 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Cardiomegaly, Absent eyelashes, Absent ... |
ORPHA:158687 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Periostitis, Osteopenia, Splenomegaly, Neutrophilia, Elevated circulating C-reactiv... |
OMIM:612852 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
| Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
| Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly, Uveitis, Abnormali... |
ORPHA:92 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, Hypopigmented skin pat... |
ORPHA:199310 |
| Felty Syndrome |
|
Hepatomegaly, Neutropenia, Pericarditis, Generalized hyperpigmentation, Lymphadenopathy, Abnormal... |
ORPHA:47612 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
| Hec Syndrome |
|
Developmental cataract, Vaginal hydrocele, Endocardial fibroelastosis, Cardiomyopathy, Abnormal p... |
ORPHA:2119 |
| Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splen... |
ORPHA:77259 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, In... |
OMIM:259700 |
| Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Abnormality of retinal pigmentation, Decreased HDL chol... |
ORPHA:14 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Osteo... |
OMIM:616897 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Hypertricho... |
OMIM:235255 |
| Collagenoma, Familial Cutaneous |
|
