Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, EEG abnormality, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder |
OMIM:617665 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Anxiety, Normal interictal EEG |
OMIM:602066 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression |
OMIM:159900 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... |
OMIM:619279 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Galactosuria, Cataract |
OMIM:230200 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria, Jaundice |
ORPHA:79238 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Huntington Disease-Like 2 |
|
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Dystonia 26, Myoclonic |
|
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Premature Ovarian Failure 19 |
|
Premature ovarian insufficiency |
OMIM:619245 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Premature ovarian insufficiency |
ORPHA:2278 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Cataract |
OMIM:607906 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... |
ORPHA:3077 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract |
OMIM:615995 |
Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency |
OMIM:300604 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:79292 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the uret... |
ORPHA:2795 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopeni... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ureterovesical stenosis, Ovarian cyst |
OMIM:268650 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cataract |
OMIM:613730 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:619146 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Premature Ovarian Failure 18 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619203 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... |
OMIM:612310 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Ovarian Dysgenesis 9 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619665 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... |
OMIM:604278 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... |
OMIM:228300 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia |
OMIM:602450 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Cataract, Chronic ... |
ORPHA:3156 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Conjunctivitis |
OMIM:240500 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... |
ORPHA:325124 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... |
OMIM:618892 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia |
ORPHA:56425 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis |
ORPHA:1046 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation, Pancytopenia, He... |
ORPHA:79477 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis |
OMIM:613313 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Th... |
ORPHA:290 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... |
OMIM:256550 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... |
ORPHA:1414 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice |
OMIM:608885 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Splenomegaly, Corneal opacity, Nephropathy |
ORPHA:87876 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... |
OMIM:194380 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Peroxisome Biogenesis Disorder 10B |
|
Prolonged neonatal jaundice, Cataract, Neurogenic bladder, Nephrocalcinosis |
OMIM:617370 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... |
OMIM:150550 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Atretic vas deferens, Pancreatic hypoplasia, Renal cyst, Nephrolit... |
OMIM:137920 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Papillary cystadenoma of the epididymis... |
OMIM:193300 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cataract, Thrombocytopenia, Rena... |
OMIM:251290 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Galactokinase Deficiency |
|
Hepatomegaly, Nuclear cataract, Increased level of galactitol in urine, Hepatosplenomegaly, Cataract |
ORPHA:79237 |
Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Renal cyst, Intrahepatic biliary dysgenesis, Brushfield spots, Splenomegaly, Hepato... |
OMIM:614866 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Anteri... |
OMIM:203780 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, A... |
ORPHA:91138 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... |
OMIM:618935 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis |
ORPHA:722 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency |
ORPHA:79312 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Iris hypopigmentation, Proteinuria |
ORPHA:834 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... |
ORPHA:90793 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Renal insufficiency, Cataract, Nephropathy |
OMIM:247410 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Kay... |
ORPHA:905 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Cataract, Exo... |
OMIM:269200 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Splenomegaly |
ORPHA:93474 |
Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... |
OMIM:300908 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... |
OMIM:610199 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hypoplasia of the iris, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic ... |
ORPHA:169090 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... |
ORPHA:39041 |
Poikiloderma With Neutropenia |
|
Conjunctivitis, Neutropenia, Splenomegaly |
OMIM:604173 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
Caroli Disease |
|
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
Vitreoretinal Degeneration, Snowflake Type |
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Corneal guttata, Cataract |
OMIM:193230 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Hypereosinophilia, Co... |
OMIM:617388 |
Coach Syndrome 1 |
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Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... |
OMIM:216360 |
Multiple Sulfatase Deficiency |
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Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity, Cataract |
ORPHA:585 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... |
OMIM:251880 |
Meige Disease |
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Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... |
OMIM:308230 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Sézary Syndrome |
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Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Adult-Onset Still Disease |
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Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Corneal opacity, Splenomegaly |
OMIM:607015 |
Congenital Pulmonary Lymphangiectasia |
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Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
Macrophage Activation Syndrome |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
Chediak-Higashi Syndrome |
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Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Abnormal dense granules,... |
OMIM:214500 |
Budd-Chiari Syndrome |
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Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
Autoimmune Hemolytic Anemia, Warm Type |
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Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... |
ORPHA:90033 |
Proteus-Like Syndrome |
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Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... |
ORPHA:2969 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Left ventricular hypertrophy... |
OMIM:209900 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
Cataract 31, Multiple Types |
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Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Floating-Harbor Syndrome |
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Hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephrocalcinosis, Varicocele, E... |
OMIM:136140 |
Agammaglobulinemia, X-Linked |
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Enteroviral hepatitis, Conjunctivitis, Lymph node hypoplasia |
OMIM:300755 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Isolated Ectopia Lentis |
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Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Hereditary Orotic Aciduria |
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Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... |
ORPHA:30 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Abnormal renal physiology, Hematuria, Stage 5 chronic kidney disease, Anterior lenticonus, Lentic... |
OMIM:308940 |
Stromme Syndrome |
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Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, Peters anomaly, Iris coloboma, Accessor... |
OMIM:243605 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Dehydrated Hereditary Stomatocytosis |
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Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:618641 |
Hereditary Elliptocytosis |
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Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Sarcoidosis, Susceptibility To, 2 |
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Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... |
OMIM:612541 |
Gaucher Disease Type 1 |
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Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... |
ORPHA:77259 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Autoimmune Hepatitis |
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Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... |
ORPHA:2137 |
Von Hippel-Lindau Disease |
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Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic cysts, Polycythemia, Neoplasm... |
ORPHA:892 |
Mixed Connective Tissue Disease |
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Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopath... |
ORPHA:809 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia, Conjunctivitis |
OMIM:617591 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Cataract 33, Multiple Types |
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Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Mucopolysaccharidosis Type 7 |
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Mucopolysacchariduria, Ascites, Hepatitis, Splenomegaly, Corneal opacity |
ORPHA:584 |
Woodhouse-Sakati Syndrome |
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Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Elevated circulating thyroid-sti... |
OMIM:241080 |
Gaucher Disease, Type I |
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Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Sitosterolemia 1 |
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Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Chronic Granulomatous Disease |
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Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Hyper-Igd Syndrome |
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Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Hereditary Spherocytosis |
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Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
Aniridia 1 |
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Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle... |
ORPHA:95699 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233710 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Corneal arcus, Pancreatic hypoplasia, Lymphadenopathy, Retroperitoneal fibrosis, Ca... |
OMIM:602782 |
Tyrosinemia, Type I |
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Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Ascites, Glomer... |
OMIM:276700 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233690 |
X-Linked Lymphoproliferative Disease |
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Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... |
ORPHA:2442 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Sideroblastic... |
OMIM:616084 |
Gray Platelet Syndrome |
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Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Hyperparathyroidism, Neonatal Severe |
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Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Anemia, Splenomegaly, Hypercalciuria, Polyuria |
OMIM:239200 |
Oculoauricular Syndrome |
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Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Familial Tumoral Calcinosis |
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Hepatomegaly, Splenomegaly, Nephrocalcinosis |
ORPHA:53715 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Floating-Harbor Syndrome |
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Hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephrocalcinosis, Renal cyst, S... |
ORPHA:2044 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Sp... |
ORPHA:30391 |
Adams-Oliver Syndrome 5 |
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Right ventricular hypertrophy, Hypersplenism, Splenomegaly |
OMIM:616028 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... |
ORPHA:90794 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Splenomegaly, Pancytopenia, Corneal stromal edema, Renal cyst, Bone ... |
ORPHA:699 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Long penis, Nephrolithiasis, Splenomegaly, Cataract |
OMIM:135500 |
Porphyria, Congenital Erythropoietic |
|
Pink urine, Corneal scarring, Cholelithiasis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, C... |
OMIM:263700 |
Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Pancreatitis, Spleno... |
ORPHA:342 |
Multiple Myeloma |
|
Nephrotic syndrome, Lymphadenopathy, Anemia, Splenomegaly, Acute kidney injury, Nephropathy |
ORPHA:29073 |
Reynolds Syndrome |
|
Jaundice, Hepatomegaly, Biliary cirrhosis, Splenomegaly |
OMIM:613471 |
Turner Syndrome |
|
Abnormality of the ovary, Horseshoe kidney, Gonadoblastoma, High urinary gonadotropin level, Incr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Abnormality of the ovary, Horseshoe kidney, Gonadoblastoma, High urinary gonadotropin level, Incr... |
ORPHA:99228 |
Monosomy X |
|
Abnormality of the ovary, Horseshoe kidney, Gonadoblastoma, High urinary gonadotropin level, Incr... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Horseshoe kidney, Gonadoblastoma, High urinary gonadotropin level, Incr... |
ORPHA:99413 |