| Dysplasia Of Head Of Femur, Meyer Type |
|
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Congenital hip dislocation,... |
ORPHA:168621 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ... |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus |
OMIM:607250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... |
OMIM:208920 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteom... |
OMIM:209950 |
| Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l... |
OMIM:241600 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the finger... |
ORPHA:79320 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Dilated cardiomyopathy, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb... |
ORPHA:1667 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Mental deterioration, Lymphopenia |
OMIM:617575 |
| Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Metaphyseal widening, Thrombocytopenia, Optic atrophy, Clubbing, Splenomegaly,... |
OMIM:617303 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joi... |
OMIM:619013 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Hepatospl... |
OMIM:612526 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca... |
ORPHA:90362 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pedal edema, A... |
ORPHA:247353 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... |
OMIM:616267 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Abnormal circulating creatine kinase conce... |
ORPHA:488650 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
| Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin... |
ORPHA:79324 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Perimembranous ventricular septa... |
OMIM:608104 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Ataxia, Pericardial effusion, Abnormal subcutaneous fat tissue distribu... |
OMIM:212065 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, C... |
ORPHA:64743 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Cog4-Cdg |
|
Ataxia, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Short tibia, Hypoplasia o... |
OMIM:607143 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Alg1-Cdg |
|
Cardiomyopathy, Limitation of joint mobility, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Confusion,... |
ORPHA:36234 |
| Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Di... |
OMIM:616730 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... |
OMIM:604250 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Short tibia, Abnormal circulating ceruloplasmin concentration, Talipes... |
OMIM:620306 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Attention deficit hyperactivity disorder, Atrial septal defect, Hypercholesterole... |
OMIM:620211 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Thrombocytopenia, Flexio... |
ORPHA:505248 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Pericardial effusion, Chorioretinal atrophy, Optic atrophy, Osteo... |
OMIM:619487 |
| Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Hypoalbuminemia |
OMIM:618347 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons... |
ORPHA:67 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Depression, Memory impairment, Hyperostosis frontalis interna, Hype... |
ORPHA:77296 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Short foot, Hypercholesterolemia, Clinodactyly, Joint hypermobility |
ORPHA:254531 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocytosis, Hypoprote... |
OMIM:226300 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Depression, Anemia, Atypical s... |
ORPHA:89842 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Pedal edema |
ORPHA:84090 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Mental deterioration, Thrombocy... |
OMIM:254900 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Pes planus, Short attention span, Elevated circulating creatine kinase concentration, Abnormal ci... |
ORPHA:88618 |
| Temple Syndrome |
|
Hypertriglyceridemia, Micrognathia, Flexion contracture, Small hand, Short foot, Hypercholesterol... |
OMIM:616222 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abnormal circulating s... |
ORPHA:470 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Optic nerve hypoplasia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:221139 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Flexion contracture, Hepatosplenomegaly, Abnormal cardiomyocyte morpholog... |
ORPHA:367 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Aceruloplasminemia |
|
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, A... |
OMIM:604290 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Left... |
ORPHA:90065 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Short clavicles, Short distal phalanx ... |
OMIM:248370 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Pes planus, Hypertriglyceridemia, Abnormal heart morphology, Short palm, Hype... |
OMIM:182290 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Large hands, Hypercholestero... |
ORPHA:528 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia |
OMIM:614441 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased susceptibility to fractures, Talipes equinovarus, Neutropenia, Reduced nat... |
OMIM:619752 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Pes planus, Hypertriglyceridemia, Toe syndactyly, Micrognathia, Joint stiffne... |
ORPHA:819 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Splenomegaly, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:602390 |
| Pgm3-Cdg |
|
Hemolytic anemia, Osteomyelitis, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophili... |
ORPHA:443811 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:37042 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... |
OMIM:277460 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Joint laxity, Ventricular septal defect, Elevated circulating... |
OMIM:615673 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... |
ORPHA:79106 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hyperchole... |
ORPHA:86816 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Small ... |
OMIM:235510 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Trichohepatoenteric Syndrome 1 |
|
Ventricular septal defect, Increased mean platelet volume, Avascular necrosis of the capital femo... |
OMIM:222470 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Neuhauser Syndrome |
|
Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Ataxia, Micrognathia, Genu valgum, Pes v... |
OMIM:249310 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... |
OMIM:242150 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Laron Syndrome |
|
Micrognathia, Short toe, Osteoarthritis, Hypercholesterolemia, Brachydactyly |
ORPHA:633 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Tapered finger, Micrognathia, Joint hyperflexibility, Metatarsus valgus, Hype... |
ORPHA:2479 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Fem... |
OMIM:620076 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardiac ventricle mo... |
ORPHA:85443 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergala... |
ORPHA:79237 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Card... |
OMIM:613313 |
| Galloway-Mowat Syndrome 1 |
|
Ataxia, Micrognathia, Hiatus hernia, Optic atrophy, Hypoalbuminemia, Talipes equinovarus, Camptod... |
OMIM:251300 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin conce... |
ORPHA:48818 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumin... |
OMIM:618329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... |
OMIM:607115 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Abnormal heart morphology, Clubbing of fingers, Midclavic... |
ORPHA:79076 |
| Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Small hand, Short foot, Hypercholesterolemia, Clinodactyly, Joint hypermobility |
ORPHA:96184 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Micrognathia |
OMIM:242860 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
| Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia,... |
OMIM:610965 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Depression, Umbilical her... |
ORPHA:90674 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Arthritis |
OMIM:611762 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Inguinal hernia, Rickets, Reduced bone ... |
OMIM:613658 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Cardiomegaly, Joint stiffness, Increased circulati... |
ORPHA:465508 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Palmoplantar keratoderma, Hypoalbuminemia, Enamel hyp... |
ORPHA:79396 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Flexion contracture, Tibial bowing, Hypoplasti... |
ORPHA:96334 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Leukopenia, Hypotriglyceridemia, H... |
ORPHA:2298 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo... |
ORPHA:79240 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia, Clubbing |
OMIM:174900 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Retrobulbar op... |
ORPHA:1451 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis, Ca... |
OMIM:606069 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of th... |
OMIM:618348 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Tapered finger, Dilated cardiomyopathy, Small hand, Short clavicles, Hyper... |
ORPHA:401923 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Pericardial effusion, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Depre... |
ORPHA:171 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyp... |
ORPHA:36238 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Hiatus hernia, Hip dislocation, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Hy... |
ORPHA:90041 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Hypoalbuminemia, Pulmonic... |
OMIM:615508 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Ocular albinism, Hepatosplenomegaly, Enlarged plate... |
OMIM:608233 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugat... |
OMIM:613280 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
ORPHA:275761 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:603671 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Mi... |
OMIM:259720 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Gout, Increa... |
ORPHA:79259 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil... |
OMIM:300972 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Hyponatremia, Osteomalacia, Abnormal dental... |
ORPHA:534 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvi... |
ORPHA:1988 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Bradykinesia, Decreased circulating ... |
ORPHA:309854 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:620133 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Cyanosis, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypo... |
ORPHA:1302 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, Preaxial polydactyly... |
OMIM:617925 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... |
OMIM:617099 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... |
ORPHA:2751 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Myocarditis, L... |
ORPHA:829 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count |
OMIM:612260 |
| Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Osteoporosis, Cardiomyo... |
OMIM:235200 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydacty... |
OMIM:263520 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal heart morphology, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:391673 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Pedal edema |
ORPHA:567546 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Rick... |
ORPHA:289176 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Liver abscess |
ORPHA:69663 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Gout, Increased LDL cholesterol co... |
ORPHA:412 |
| Pmm2-Cdg |
|
Osteopenia, Pes planus, Pericarditis, Multiple joint contractures, Ataxia, Lipodystrophy, Joint l... |
ORPHA:79318 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Steinert Myotonic Dystrophy |
|
Short attention span, Fatigable weakness of bulbar muscles, Inability to walk, Dilated cardiomyop... |
ORPHA:273 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Micrognathia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concen... |
OMIM:619991 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Hyperchol... |
ORPHA:363618 |
| Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect... |
OMIM:214800 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Syndromic Diarrhea |
|
Lymphopenia, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Increased mean pl... |
ORPHA:84064 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Myocarditis, Thrombocytopenia, Spl... |
ORPHA:50918 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri... |
OMIM:615812 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Ventricular septal defect, Micrognathia, Preaxial hand polydactyly... |
OMIM:236680 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma |
OMIM:610644 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Ventricular septal defect, Chorioretinal atrophy, P... |
OMIM:118450 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Sickle Cell Disease |
|
Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Target... |
OMIM:603903 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short t... |
OMIM:218330 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Cushing Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:96253 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... |
OMIM:164900 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... |
OMIM:164745 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu... |
OMIM:619321 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Tracheomalaci... |
OMIM:300373 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Myocardial steatosis, ... |
ORPHA:391665 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Hypertrophic cardiomyopathy, Ataxia |
OMIM:620270 |
