Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... |
OMIM:604416 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Buschke-Ollendorff Syndrome |
|
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... |
OMIM:209950 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:616050 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... |
ORPHA:2485 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Hyperkalemia, Elevated c... |
OMIM:620366 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity |
OMIM:618406 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... |
ORPHA:507 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Decreased ... |
OMIM:608104 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and... |
ORPHA:79320 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hy... |
OMIM:619013 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... |
ORPHA:2905 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... |
OMIM:614034 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch... |
OMIM:616267 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnorm... |
ORPHA:158061 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimulation test, Decreased... |
OMIM:618347 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... |
OMIM:208920 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia |
OMIM:618805 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemia, Hypoc... |
OMIM:212750 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hypergonadotropic hypogonadism, Tremor, Abnormal subcutaneous fat tissue distribution... |
OMIM:212065 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukop... |
OMIM:615934 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... |
ORPHA:1667 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia |
ORPHA:37748 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... |
ORPHA:3240 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... |
ORPHA:2298 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Reni Syndrome |
|
Hypertriglyceridemia, Adrenal insufficiency, Hypoalbuminemia, Hypogonadism, Lymphopenia, Hypothyr... |
OMIM:617575 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... |
ORPHA:94089 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... |
ORPHA:94093 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion... |
ORPHA:90362 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention... |
OMIM:254900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Hyperthyroidism, Failure to thrive in infancy, Cachex... |
ORPHA:37042 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Dystonia, Failu... |
OMIM:619487 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... |
ORPHA:36913 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Flexion con... |
ORPHA:89842 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Weight loss, Arthritis, Iron deficiency an... |
OMIM:301074 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... |
OMIM:239000 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytop... |
OMIM:617303 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Camptodactyly, B lymphocytopenia, Hyp... |
ORPHA:79324 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... |
OMIM:617093 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis, Failure to thrive, Hypot... |
OMIM:615486 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia |
ORPHA:20 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Failure to thrive, Acanthoc... |
ORPHA:14 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo... |
ORPHA:324636 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration |
OMIM:615508 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Brucellosis |
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Osteomyelitis, Thrombocytosis, Small for gestational age, Elevated circulating C-reactive protein... |
ORPHA:1304 |
Beemer-Ertbruggen Syndrome |
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Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Liver Failure, Infantile, Transient |
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Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Amoebiasis Due To Entamoeba Histolytica |
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Leukocytosis, Hypoalbuminemia, Anemia, Weight loss |
ORPHA:67 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Pseudohypoparathyroidism Type 1C |
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Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Small for gestational age, Rickets, Redu... |
OMIM:613658 |
Chondrodysplasia, Blomstrand Type |
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Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Genetic Steroid-Resistant Nephrotic Syndrome |
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Hypoalbuminemia |
ORPHA:656 |
Juvenile Polyposis Syndrome |
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Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
Kenny-Caffey Syndrome, Type 2 |
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Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... |
OMIM:127000 |
Lethal Recessive Chondrodysplasia |
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Generalized osteosclerosis |
ORPHA:1423 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple... |
OMIM:612840 |
Werner Syndrome |
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Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Osteoporosis, Thyroi... |
ORPHA:902 |
Syndromic Diarrhea |
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Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... |
ORPHA:84064 |
Spondyloepiphyseal Dysplasia Tarda |
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Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive... |
ORPHA:79396 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Dysosteosclerosis |
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Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... |
ORPHA:1782 |
Pycnodysostosis |
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Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... |
ORPHA:763 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina... |
OMIM:619055 |
Galloway-Mowat Syndrome 1 |
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Small for gestational age, Hiatus hernia, Hypoalbuminemia, Dystonia, Joint contracture of the han... |
OMIM:251300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Leukopenia, Hypoalbum... |
ORPHA:505248 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Thyroid lymphangiectasia, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynosto... |
OMIM:235510 |
Al Amyloidosis |
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Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Osteoporosis, Hypoalbuminemia, A... |
ORPHA:186 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoalbuminemia |
OMIM:618329 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... |
ORPHA:355 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
12Q14 Microdeletion Syndrome |
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Diabetes mellitus, Tremor, Abnormality of the spleen, Osteopoikilosis, Failure to thrive |
ORPHA:94063 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Hepatospleno... |
ORPHA:171 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Increased bone mi... |
ORPHA:79474 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia |
OMIM:618213 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Desmosterolosis |
|
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... |
ORPHA:1798 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Desmosterolosis |
|
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... |
OMIM:602398 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... |
ORPHA:35687 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, ... |
ORPHA:2323 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... |
ORPHA:90652 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... |
OMIM:259775 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Hyperinsulinemic hypoglycemia, Abnormality o... |
ORPHA:2968 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-d... |
OMIM:270400 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... |
ORPHA:2785 |
Doors Syndrome |
|
Thrombocytosis, Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism |
ORPHA:79500 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... |
ORPHA:667 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Spleno... |
OMIM:619534 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadi... |
ORPHA:79318 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Tremor, Hypothyroidism, Joint lax... |
ORPHA:904 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Hyperoxaluria, Recurrent fractures |
ORPHA:416 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... |
OMIM:119600 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia |
ORPHA:75565 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Splenopancreatic fusion, Opisthotonus, Sclerosis of skull base, ... |
OMIM:269150 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis |
OMIM:618369 |