Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... |
OMIM:619902 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Hypochromia, Hepat... |
OMIM:616860 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... |
OMIM:300835 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Hepatomegaly, Lactica... |
OMIM:604273 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... |
OMIM:617805 |
Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Hip contracture, Hypogonadotropic hypogonadi... |
ORPHA:353298 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr... |
OMIM:258900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-ne... |
OMIM:603909 |
Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Polydactyly, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged k... |
OMIM:613885 |
Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Eosinophilia, Short digit,... |
OMIM:616651 |
Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Renal dysplasia, Preaxial polydactyly, Acetabular spurs... |
OMIM:613091 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Omenn Syndrome |
|
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Hepa... |
ORPHA:39041 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hepatomegaly |
OMIM:615387 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Hip dislocation, Clubbing |
OMIM:618523 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Hepatosplenomegaly, Membranous nephropathy, Eosinophilia |
OMIM:618999 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Glomerul... |
OMIM:304790 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leukopenia, Acetabula... |
OMIM:617303 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... |
OMIM:301310 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... |
OMIM:603554 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, H... |
ORPHA:3320 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Femoral bowing, Undulate ... |
OMIM:618188 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Growth arrest lines, Abnormal pelvic girdle bone morphology, Severe B lymphocytopenia, Lymphopeni... |
OMIM:102700 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... |
ORPHA:90045 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ... |
OMIM:602450 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
Aspergillosis |
|
Abnormal rib morphology, Abnormal long bone morphology, Eosinophilia, Abnormality of the kidney, ... |
ORPHA:1163 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Narrow greater sc... |
OMIM:617425 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Absent in utero rib ossification, Missin... |
OMIM:608022 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Azoospermia, Abnormal rib morphology, Hypoplasia of th... |
OMIM:601076 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma... |
ORPHA:464329 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the testis size, Abscess, Ovarian cyst, Splenic cyst, Renal cy... |
ORPHA:400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Sandal gap, Microphallus, Preaxial polydactyly, Hyperechogenic kidneys, Fibular bo... |
OMIM:612651 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem... |
OMIM:314390 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... |
OMIM:146255 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Femoral bowing, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:617388 |
Lymphatic Filariasis |
|
Urethral obstruction, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Hematuria, Protei... |
ORPHA:2035 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
H Syndrome |
|
Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcytic anemia, Hall... |
ORPHA:168569 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... |
ORPHA:251004 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Renal dysplasia, Renal insufficiency, Cardiomegaly, Hydronephrosis, Long toe, Long f... |
OMIM:608836 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Lymphocytosis, Tubulointerstitial nephritis, Nephrotic syndrome |
ORPHA:139402 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Ovarian serous cystadenoma, Foot polydactyly, H... |
ORPHA:276280 |
46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia |
ORPHA:293173 |
Igg4-Related Aortitis |
|
Hydronephrosis, Hypereosinophilia |
ORPHA:449400 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Long thumb, Acute myeloid leukemia, Thrombocytopenia, An... |
OMIM:619151 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:615816 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... |
OMIM:194072 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiomegaly, Poikilocytosis, El... |
OMIM:618278 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
Loeffler Endocarditis |
|
Eosinophilia, Left ventricular hypertrophy |
ORPHA:75566 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Abnormal bladder morphology, Renal cyst, Eosinophilia, Abnormal spleen morphol... |
ORPHA:284 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long hallux, Bifid ureter... |
ORPHA:500095 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Varus deformity of humeral neck, Splen... |
OMIM:252500 |
Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... |
ORPHA:3130 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... |
OMIM:158330 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Hematuria, Proteinuria, Eosinophilia, Glomerulopathy, Tubulointerstitial nep... |
ORPHA:183 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Renal insufficiency, Splenomegaly, Decre... |
ORPHA:3261 |
Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... |
OMIM:608978 |
Lumbar Syndrome |
|
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... |
ORPHA:83628 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... |
OMIM:208540 |
Coccidioidomycosis |
|
Granuloma, Abnormality of the male genitalia, Broad ribs, Abnormality of the spleen, Renal insuff... |
ORPHA:228123 |
Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... |
OMIM:130650 |
Acrocephalopolydactylous Dysplasia |
|
Polysplenia, Postaxial hand polydactyly, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Anem... |
OMIM:276700 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glyc... |
ORPHA:505248 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrolithiasis, Proteinuri... |
ORPHA:79259 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Flared metaphysis, Abnormal renal artery morphology, Hydronephrosis, N... |
ORPHA:79328 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
Oeis Complex |
|
Congenital hip dislocation, Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous ... |
OMIM:258040 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambig... |
OMIM:618280 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Iga Pemphigus |
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Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Clubbing, Enlarged kidney |
ORPHA:79128 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Thin ribs, Absent external genitalia, Aplasia of the vagina, Short ribs, Missing ribs, Aplasia of... |
OMIM:271520 |
Chromosome 17Q12 Deletion Syndrome |
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Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Short foot, Long fingers, Unilateral ... |
OMIM:614527 |
Wiskott-Aldrich Syndrome |
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Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... |
OMIM:301000 |
Mucoepithelial Dysplasia, Hereditary |
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Hematuria, Eosinophilia |
OMIM:158310 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Eosinophilia |
ORPHA:2314 |
Idiopathic Hypereosinophilic Syndrome |
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Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sp... |
ORPHA:3260 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Eosinophilia, Macrocytic anemia |
ORPHA:199299 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Meckel Syndrome 12 |
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Renal hypoplasia, Bilateral renal agenesis, Vaginal atresia, Hypoplasia of the uterus, Rocker bot... |
OMIM:616258 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Incontinentia Pigmenti |
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Deviation of finger, Finger syndactyly, Camptodactyly of finger, Absent hand, Supernumerary ribs,... |
ORPHA:464 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ... |
ORPHA:2237 |
Congenital Erythropoietic Porphyria |
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Red-brown urine, Purple urine, Leukopenia, Increased urinary porphobilinogen, Erythroid hyperplas... |
ORPHA:79277 |
Microcephaly 20, Primary, Autosomal Recessive |
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Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at... |
OMIM:617914 |
Ogden Syndrome |
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Congenital hip dislocation, Sandal gap, Broad hallux, Polycythemia, Decreased testicular size, Cr... |
OMIM:300855 |
Angiostrongyliasis |
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Hypereosinophilia |
ORPHA:74 |
46,Xy Sex Reversal 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Broad thumb, Cryptorchidism, 2-3 finger syndactyly, Broad toe, Hepatomegaly, Short greater sciati... |
OMIM:312870 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Helsmoortel-Van Der Aa Syndrome |
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Enuresis nocturna, Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux,... |
OMIM:615873 |
Beckwith-Wiedemann Syndrome |
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Nephropathy, Visceromegaly, Polycythemia, Vesicoureteral reflux, Cryptorchidism, Splenomegaly, Ne... |
ORPHA:116 |
Acromesomelic Dysplasia 3 |
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Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
Incontinentia Pigmenti |
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Supernumerary ribs, Eosinophilia, Leukocytosis |
OMIM:308300 |
Autosomal Recessive Polycystic Kidney Disease |
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Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Prostatitis, Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
Immunodeficiency 89 And Autoimmunity |
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Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Leprechaunism |
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Clitoral hypertrophy, Long penis, Nephrocalcinosis, Overgrowth of external genitalia, Labial hype... |
ORPHA:508 |
Townes-Brocks Syndrome 2 |
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Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Cloacal Exstrophy |
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Hydroureter, Ureterocele, Bladder exstrophy, Abnormal tibia morphology, Horseshoe kidney, Vesicou... |
ORPHA:93929 |
46,Xy Sex Reversal 4 |
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Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplas... |
OMIM:154230 |
Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Satoyoshi Syndrome |
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Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short metatarsal, Hy... |
OMIM:600705 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Short lo... |
OMIM:306955 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Renal Cysts And Diabetes Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
Sarcoidosis |
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Nephrocalcinosis, Leukopenia, Renal insufficiency, Nephrolithiasis, Abnormal reproductive system ... |
ORPHA:797 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Renal dysplasia... |
ORPHA:322 |
Seckel Syndrome 7 |
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Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Short middle phalanx of ... |
OMIM:614851 |
Igg4-Related Pachymeningitis |
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Nephritis, Eosinophilia |
ORPHA:449427 |
Müllerian Aplasia And Hyperandrogenism |
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Renal agenesis, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly, Hypoplasia o... |
ORPHA:247768 |
Phocomelia, Schinzel Type |
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Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... |
ORPHA:2879 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Proteus Syndrome |
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Macrodactyly, Rib exostoses, Long penis, Thymus hyperplasia, Finger syndactyly, Metatarsus valgus... |
ORPHA:744 |
Fanconi Anemia, Complementation Group L |
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Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Aplasia o... |
OMIM:614083 |
Meckel Syndrome 14 |
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Postaxial foot polydactyly, Bowing of the long bones, Aplasia of the uterus, Postaxial polydactyl... |
OMIM:619879 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... |
ORPHA:90793 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... |
OMIM:276820 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... |
ORPHA:168558 |
Vaginal Atresia |
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Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Wiskott-Aldrich Syndrome |
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Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro... |
ORPHA:906 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... |
ORPHA:289548 |
Bent Bone Dysplasia Syndrome 2 |
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Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... |
OMIM:620076 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Prostatitis, Abnormality of the kidney, Orchitis |
ORPHA:449563 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ... |
OMIM:107480 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... |
ORPHA:991 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Microphthalmia, Syndromic 9 |
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Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... |
OMIM:601186 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Splenopancreatic f... |
OMIM:269150 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of... |
ORPHA:457284 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Bifid distal phalanx of toe, Unilateral renal agenesis, Gonadal dysgenesis, Cut... |
OMIM:618419 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Thin ribs, Clitoral hypertrophy, Renal hypoplasia, Abnormal forearm bo... |
ORPHA:3404 |
Viss Syndrome |
|
Genu valgum, Hypereosinophilia, Right ventricular hypertrophy, Contracture of the proximal interp... |
OMIM:619472 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus, Delayed epiphyseal ossification |
ORPHA:785 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... |
ORPHA:90794 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly |
ORPHA:75565 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Hypoplastic labia majo... |
OMIM:119500 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short distal phalanx of finger, Hypoplasia of the uterus, Renal malrotation, Clinodactyly |
OMIM:615866 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Prominent fingertip pads, Sandal gap, Short ... |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, ... |
OMIM:236680 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial h... |
OMIM:194190 |
Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Decreased eosinophil count, Leukocytosis |
ORPHA:96253 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Aplasia of the ovary, Aplasia of the uterus, Clinodactyly of the 5t... |
ORPHA:69085 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Unilateral brachydactyly, Bifid uterus, Syndactyly |
ORPHA:1521 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Carpal synostosis, Cryptorchidism, Ovarian cyst, Polycystic ... |
OMIM:201750 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr... |
OMIM:130050 |
Okamoto Syndrome |
|
Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomega... |
ORPHA:2729 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Coffin-Lowry Syndrome |
|
Bifid sternum, Uterine prolapse, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing,... |
OMIM:303600 |
Neu-Laxova Syndrome 1 |
|
Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Renal agenesis, Cryp... |
OMIM:256520 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... |
OMIM:241080 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Lymphopenia, Prostate cancer, Leukocytosis, Decreased eosinophi... |
ORPHA:99889 |
Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
Peters-Plus Syndrome |
|
Abnormal pelvic girdle bone morphology, Renal hypoplasia, Square pelvis bone, Short toe, Cryptorc... |
OMIM:261540 |
Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Short toe, Cryptorchidism, Renal duplication, Renal... |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Small scrotum, Small hand, Postaxial foot polydactyly, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Uterine rupture, Camptodactyly of finger |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder... |
ORPHA:286 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |