Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... |
OMIM:136120 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... |
OMIM:607616 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Opacification... |
OMIM:245900 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe |
OMIM:618010 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
Candidiasis, Familial, 2 |
|
Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... |
OMIM:601376 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
Cinca Syndrome |
|
Leukocytosis, Patellar overgrowth, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating... |
OMIM:607115 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Elevated circulating creatine kinase concentration, Eosinophilia |
OMIM:253600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... |
OMIM:613101 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... |
OMIM:603554 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Temple Syndrome |
|
Micrognathia, Small hand, Hypercholesterolemia, Short foot, Hypertriglyceridemia, Clinodactyly |
OMIM:616222 |
Distal Myopathy, Tateyama Type |
|
Progressive pes cavus, Abnormal circulating creatine kinase concentration, Calf muscle hypoplasia... |
ORPHA:488650 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Pes cavus, Hypoalbuminemia |
OMIM:607250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Micrognathia, Hypertriglyceridemia |
ORPHA:436182 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Broad femoral head, Epiphyseal dysplasia, Clino... |
ORPHA:353298 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... |
OMIM:612447 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
OMIM:615238 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancytopenia, A... |
OMIM:300635 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Hip dislocation, Eosinophilia, Clubbing, Keratitis |
OMIM:618523 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Short metacarpal, Short digit, Short toe, Clinodactyly of the 5th fin... |
OMIM:616651 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... |
OMIM:619217 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia |
ORPHA:94124 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... |
ORPHA:2070 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:610717 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... |
OMIM:618398 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... |
OMIM:616828 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein AI concentration, C... |
ORPHA:650 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Hypercholesterolemia, Short foot, Clinodactyly |
ORPHA:254531 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Micrognathia |
OMIM:618282 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Punctate keratitis, Splenomegaly, Hypereosinophilia, Palmoplantar hyp... |
OMIM:617388 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Dislocated radial head, Brachydactyly, Lymphopenia, ... |
OMIM:617425 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... |
OMIM:274000 |
Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... |
ORPHA:3329 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Developmental cataract, Hypertriglyceridemia |
OMIM:606721 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Hypocalcemia, Sandal gap, ... |
OMIM:607143 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Immunodeficiency 49 |
|
Eosinophilia, Micrognathia, Lymphopenia |
OMIM:617237 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Omenn Syndrome |
|
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Abnormality of the metaphysis, Splenomegaly... |
ORPHA:39041 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Short iliac bones, Metaphyseal widening, Elevated circulating creatinine concentration, Pes valgu... |
OMIM:614376 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Calf muscle hypertrophy |
ORPHA:280356 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Dec... |
ORPHA:247598 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Galactokinase Deficiency |
|
Nuclear cataract, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Cataract, Increase... |
ORPHA:79237 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Laron Syndrome |
|
Hypercholesterolemia, Micrognathia, Brachydactyly, Short toe |
ORPHA:633 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... |
OMIM:278000 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Broad ischia, Short phalanx of finger, Micrognathia, Aplasia/hypoplasi... |
ORPHA:508533 |
Slc35A2-Cdg |
|
Metatarsus adductus, Increased circulating thyroglobulin level, Talipes equinovarus, Aplasia/hypo... |
ORPHA:356961 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... |
ORPHA:3344 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot... |
ORPHA:1505 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria, Hyperammonemia, Hypertriglyceridemia, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Smith-Magenis Syndrome |
|
Pes planus, Hypercholesterolemia, Hypertriglyceridemia, Short palm, Brachydactyly |
OMIM:182290 |
Eiken Syndrome |
|
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... |
ORPHA:79106 |
Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Megalocornea-Mental Retardation Syndrome |
|
Micrognathia, Hypoplasia of the iris, Iridodonesis, Pes valgus, Pes planus, Genu recurvatum, Genu... |
OMIM:249310 |
Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... |
OMIM:251230 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Elevated hemogl... |
OMIM:618620 |
Megalocornea-Intellectual Disability Syndrome |
|
Micrognathia, Genu varum, Hypoplasia of the iris, Tapered finger, Iridodonesis, Hypercholesterole... |
ORPHA:2479 |
Nephrotic Syndrome, Type 11 |
|
Micrognathia, Arachnodactyly, Hypercholesterolemia, Partial duplication of thumb phalanx, Hypoalb... |
OMIM:616730 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
Nephrotic Syndrome, Type 14 |
|
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Aspergillosis |
|
Abnormality of long bone morphology, Eosinophilia, Neutropenia, Keratitis |
ORPHA:1163 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Finger swelling, Thrombocytopenia, Conju... |
OMIM:617591 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Small hand, Hypercholesterolemia, Short foot, Clinodactyly |
ORPHA:96184 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Iron deficiency anemia, Small hand, Decreased serum crea... |
OMIM:618885 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration |
ORPHA:275555 |
Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... |
OMIM:603553 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... |
OMIM:604250 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449400 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Short foot, Cl... |
ORPHA:289522 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Short clavicles, Small hand, Tapered finger |
ORPHA:401923 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Pes cavus, Hypoalbuminemia |
OMIM:208920 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly |
OMIM:258865 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
Late-Onset Isolated Acth Deficiency |
|
Hypercalcemia, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hyperuricemia, Eosinophilia, D... |
ORPHA:199299 |
Mandibuloacral Dysplasia |
|
Micrognathia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Acroosteol... |
ORPHA:2457 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Corneal neovas... |
OMIM:158310 |
Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Megalocornea, Mesomelia, Lateral humeral condyle aplasia, Coxa... |
OMIM:164900 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hyperlipidemia, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Abscess, Hyperbilirubinemia, Eosinophilia |
ORPHA:400 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Micrognathia, Pes planus, Hypercholesterolemia, Clinodactyly of the 5th finger, H... |
ORPHA:819 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
Dysbetalipoproteinemia |
|
Corneal arcus, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, ... |
ORPHA:412 |
Cidec-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Micrognathia, Arachnodactyly, Hypercholesterolemia, Partial duplication of thumb p... |
OMIM:618348 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Pedal edema, Increased al... |
ORPHA:86816 |
Congenital Generalized Lipodystrophy |
|
Large hands, Long foot, Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar h... |
OMIM:119800 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:66628 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:179494 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... |
OMIM:617514 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... |
ORPHA:2442 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Clinodactyly of the 5th finger, Lymphopenia |
ORPHA:1116 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Scleroderma |
|
Elevated circulating creatine kinase concentration, Abnormal phalangeal joint morphology of the h... |
ORPHA:801 |
Omodysplasia 1 |
|
Popliteal pterygium, Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia... |
OMIM:258315 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... |
ORPHA:1988 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Prox... |
ORPHA:98855 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Micrognathia, Hypertriglyceridemia |
OMIM:615381 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... |
ORPHA:3320 |
Tangier Disease |
|
Hypocholesterolemia, Anemia, Hepatosplenomegaly, Corneal opacity, Hypertriglyceridemia, Thrombocy... |
ORPHA:31150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Subcapsular cataract, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, A... |
ORPHA:98907 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, E... |
ORPHA:101096 |
Incontinentia Pigmenti |
|
Keratitis, Deviation of finger, Finger syndactyly, Absent hand, Corneal opacity, Cataract, Campto... |
ORPHA:464 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435660 |
Lysinuric Protein Intolerance |
|
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... |
ORPHA:470 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... |
ORPHA:167 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Keratoconjunctivitis sicca, Abnormal foot morphology, Hallux valgus, Micrognathia, Knee dislocati... |
ORPHA:536532 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Hyperlipidemia |
ORPHA:79476 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... |
OMIM:227270 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De... |
OMIM:600785 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Hypophosphatemia, Tr... |
OMIM:307800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Prox... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Prox... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Prox... |
ORPHA:98853 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia |
ORPHA:90060 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Hypertriglyceridemia |
OMIM:610644 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolemia, Postaxial hand polydactyly, Asti... |
OMIM:619471 |
H Syndrome |
|
Hallux valgus, Corneal arcus, Pes planus, Hepatosplenomegaly, Microcytic anemia, Hypertriglycerid... |
ORPHA:168569 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Pes planus, Hyperuricemia, Subcapsular cataract, Hypertr... |
OMIM:203800 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... |
ORPHA:79240 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Fanconi-Bickel Syndrome |
|
Bowing of the long bones, Generalized aminoaciduria, Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Hypercholesterolemia, Hypertrig... |
ORPHA:370 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... |
ORPHA:264580 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Alveolar Echinococcosis |
|
Pedal edema, Anemia, Abnormal spleen morphology, Abnormal pelvis bone morphology, Eosinophilia, C... |
ORPHA:284 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Hepatosplenomegaly... |
ORPHA:96334 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Cataract, Keratitis |
OMIM:308300 |
Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... |
OMIM:113470 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Ankle swelling, Anemia, Clubbing, Splenomegaly, Myeloproliferative ... |
ORPHA:3260 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl... |
OMIM:617925 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Finger clinodactyly, Hypertriglyceridemia, Ca... |
ORPHA:261476 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Seckel Syndrome 10 |
|
Cone-shaped epiphysis, Metaphyseal widening, Slender long bone, Elevated hemoglobin A1c, Hypertri... |
OMIM:617253 |
Body Mass Index Quantitative Trait Locus 19 |
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Hyperlipidemia |
OMIM:617885 |
Cartilage-Hair Hypoplasia |
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Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dyspla... |
OMIM:250250 |
Igg4-Related Pachymeningitis |
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Eosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:449427 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Familial Chylomicronemia Syndrome |
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Hyperlipidemia, Perianal abscess, Hepatosplenomegaly, Hypertriglyceridemia, Increased circulating... |
ORPHA:444490 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Glycogen Storage Disease Iii |
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Elevated circulating creatine kinase concentration, Hyperlipidemia |
OMIM:232400 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmun... |
ORPHA:760 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... |
OMIM:263520 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Micrognathia, Decreased HDL cholesterol concentration, Muscle hypertrophy of the lower extremitie... |
ORPHA:280365 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Anemia, Bone-marrow foam cells, Hypercholeste... |
ORPHA:275761 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
Noonan Syndrome 12 |
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Thrombocytopenia, Proximal placement of thumb, Lymphopenia, 11 pairs of ribs |
OMIM:618624 |
Ulna And Fibula, Hypoplasia Of |
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Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Opacification of the corneal stroma, Neutropenia, Anemia, Astigmatism... |
OMIM:242900 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Abnormal femoral head morphology, Hyperli... |
ORPHA:1830 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Liver abscess |
ORPHA:69663 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Splenomegaly |
OMIM:613327 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Abnorm... |
ORPHA:36234 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Rhizomelic arm s... |
ORPHA:508542 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Corneal ulceration, Increased blood urea nitrogen,... |
OMIM:223900 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormality of epi... |
ORPHA:90674 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... |
OMIM:613179 |
Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
Coccidioidomycosis |
|
Broad metatarsal, Abnormality of the spleen, Abscess, Abnormality of long bone morphology, Granul... |
ORPHA:228123 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration |
OMIM:613095 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Eosinophilia, Elevated circulating C-reactive prot... |
ORPHA:449395 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Accessory spleen, Thrombocytop... |
OMIM:300972 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Chronic neutropenia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia, Hyperuricemia... |
ORPHA:79259 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypercalcemia, Upper limb undergrowth, Micrognathia, Slender long bone, Hypertriglyceridemia, Ast... |
ORPHA:369837 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Hypercholesterolemia, Cataract, Hypertriglyceridemia, Short distal phalanx... |
OMIM:118450 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypokalemia, Lymphopenia, Decreased propor... |
OMIM:619573 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
Fibrochondrogenesis 1 |
|
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... |
OMIM:228520 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Calf muscle pseudohypertrophy |
ORPHA:79086 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Micrognathia, Hypokalemia, Abnormality of epiphysis morphology, Anemia, Hypophospha... |
ORPHA:534 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Decreased fibular diameter, Dysplasia of the femoral head, Sandal gap, Genu valgum,... |
OMIM:619127 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Avascular necrosis of the capital femoral epiphysis, Normochromic anemia, Normocytic anemia, Elev... |
ORPHA:247691 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... |
OMIM:304120 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... |
ORPHA:542323 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Flexion contracture of toe, Hypoplastic s... |
OMIM:256040 |
Lowe Oculocerebrorenal Syndrome |
|
Developmental cataract, Dense posterior cortical cataract, Elevated maternal serum alpha-fetoprot... |
OMIM:309000 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Cousin Syndrome |
|
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... |
OMIM:260660 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Keratitis |
ORPHA:449563 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Anemia, H... |
ORPHA:85450 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... |
ORPHA:77293 |
Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Pterygium, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar ... |
OMIM:211350 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Lymphatic Filariasis |
|
Knee osteoarthritis, Hypereosinophilia, Ankle swelling |
ORPHA:2035 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Radial club hand, Leukopenia, Talipes equinovarus, Rocker bottom foot... |
OMIM:617053 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Hypercalcemia, Leukopenia, Increased T cell count, Anemia, Cataract, ... |
ORPHA:797 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Broad thumb, Hypoplasia of the thymus, Anemia, Erythroid hy... |
OMIM:612541 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... |
ORPHA:958 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Splenomegaly, Accessory spleen, Hypertriglyceridemia, Microretrognathia, Polysplenia |
OMIM:619418 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Hepatosplenomegaly, Lymphopenia, Metaphyseal d... |
OMIM:242700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... |
ORPHA:90362 |
Orofaciodigital Syndrome X |
|
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly |
OMIM:165590 |
Occipital Horn Syndrome |
|
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... |
ORPHA:198 |
Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of inf... |
ORPHA:99826 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand,... |
ORPHA:90154 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... |
OMIM:208500 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly |
ORPHA:1414 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomegaly |
ORPHA:29073 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... |
OMIM:114290 |
Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... |
ORPHA:454836 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... |
ORPHA:90153 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, ... |
ORPHA:49041 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Limb undergrowth, Anemia, Pes cavus, Cataract, Lymphope... |
OMIM:616541 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... |
ORPHA:276 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Sandal gap, Finger syndactyly, Toe clinodactyly, Short palm, Clinodactyly of the ... |
ORPHA:254346 |
Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Acce... |
OMIM:236680 |
Phocomelia, Schinzel Type |
|
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... |
ORPHA:2879 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Short clavicles, Hyperlipidemia, Osteolytic defects of the distal phalanges of the ... |
OMIM:608612 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Large hands, Long foot, Long fingers, Hypertriglyceridemia, Long toe, Short humerus... |
OMIM:264090 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Brain abscess, Increased circulating interleukin 6, Leukocytosis, Abn... |
ORPHA:544482 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... |
OMIM:200980 |
Campomelic Dysplasia |
|
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... |
ORPHA:140 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... |
OMIM:615934 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:605309 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Large hands, Long foot, Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Eosinophilia, Pedal edema, Splenomegaly |
ORPHA:75565 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Micrognathia |
ORPHA:2260 |
Popov-Chang syndrome |
|
Clinodactyly of the 5th finger, Small hand, Lymphopenia, Short foot |
OMIM:618428 |
Cushing Disease |
|
Leukocytosis, Increased circulating cortisol level, Paradoxical increased cortisol secretion on d... |
ORPHA:96253 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Large hands, Long foot, Hypertriglyceridemia, Splenomegaly |
OMIM:269700 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
2-3 toe syndactyly, Lymphopenia |
ORPHA:391307 |
Ataxia-Telangiectasia |
|
Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Elevated alpha-fetoprotein, Decr... |
OMIM:208900 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Neutropenia, Short iliac bones, Metaphyseal widening, Metaphyseal irregula... |
OMIM:607944 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Hyperlipidemia |
ORPHA:199276 |
Icf Syndrome |
|
Abnormality of neutrophils, Micrognathia, Anemia, Lymphopenia |
ORPHA:2268 |
Schneckenbecken Dysplasia |
|
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... |
ORPHA:3144 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... |
OMIM:618935 |
Viss Syndrome |
|
Micrognathia, Rocker bottom foot, Talipes equinovarus, Pes planus, Contracture of the proximal in... |
OMIM:619472 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Atypical Werner Syndrome |
|
Developmental cataract, Micrognathia, Rocker bottom foot, Pes planus, Hip dysplasia, Hypertriglyc... |
ORPHA:79474 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli... |
OMIM:276820 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the metaphysis, Long fibula, Anemia, Lymphopenia |
ORPHA:935 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Overlapping toe |
OMIM:617478 |
Wiedemann-Rautenstrauch Syndrome |
|
2-3 toe syndactyly, Long fingers, Thin long bone diaphyses, Corneal opacity, Hip dysplasia, Catar... |
ORPHA:3455 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... |
ORPHA:340 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |