| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... |
OMIM:616098 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... |
OMIM:618982 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Scoliosis, Flexion contracture |
OMIM:166700 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... |
OMIM:619773 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Sclerotic vertebral endplates, Clavicular sclerosis, Metaphyseal dysplas... |
OMIM:615198 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an... |
OMIM:619220 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... |
OMIM:613953 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column |
OMIM:602475 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
| Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... |
OMIM:312863 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... |
OMIM:613502 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... |
OMIM:300400 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... |
OMIM:618459 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... |
OMIM:610163 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... |
OMIM:231100 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... |
OMIM:615401 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... |
OMIM:301082 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... |
ORPHA:33402 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Bronchiol... |
OMIM:300755 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... |
ORPHA:53697 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Panhypogammaglobuli... |
OMIM:307200 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... |
OMIM:611497 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczematoid dermatitis |
OMIM:176090 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... |
OMIM:619707 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... |
OMIM:615767 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi... |
OMIM:601457 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... |
OMIM:300988 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:612692 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... |
ORPHA:446 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... |
ORPHA:169154 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... |
ORPHA:276 |
| Immunodeficiency 48 |
|
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur... |
OMIM:269840 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... |
OMIM:617638 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio... |
OMIM:615122 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... |
OMIM:618944 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... |
OMIM:243700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... |
OMIM:618400 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... |
ORPHA:169160 |
| Immunodeficiency 46 |
|
Sepsis, Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Meningitis, Anemia, Inte... |
OMIM:616740 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,... |
OMIM:607594 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun... |
OMIM:212050 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... |
OMIM:614699 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec... |
OMIM:618495 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce... |
OMIM:619281 |
| Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... |
ORPHA:566943 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
| Immunodeficiency 104 |
|
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... |
OMIM:608971 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Rec... |
OMIM:308230 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... |
OMIM:232400 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
| Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... |
OMIM:617585 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
| Hypogonadism, Male |
|
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis |
OMIM:241100 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:369 |
| Complement Component 8 Deficiency, Type Ii |
|
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Impaired T... |
OMIM:240500 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... |
OMIM:233650 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... |
OMIM:615214 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... |
OMIM:607634 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... |
OMIM:300635 |
| Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica... |
ORPHA:2204 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... |
OMIM:278000 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ... |
ORPHA:2114 |
| Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ... |
OMIM:226990 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ... |
OMIM:613501 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Aspergillosis |
|
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... |
ORPHA:1163 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:620357 |
| Immunodeficiency 66 |
|
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections |
OMIM:618847 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... |
ORPHA:217390 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
| Complete Androgen Insensitivity Syndrome |
|
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... |
ORPHA:99429 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia |
OMIM:618881 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... |
OMIM:616911 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... |
OMIM:613812 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... |
ORPHA:397596 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... |
ORPHA:2688 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis |
OMIM:618955 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... |
ORPHA:91349 |
| Reticular Dysgenesis |
|
Sepsis, Abnormality of neutrophils, Leukopenia, Skin rash, Anemia, Recurrent respiratory infectio... |
ORPHA:33355 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:280356 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin... |
ORPHA:229717 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia, Decreased ... |
OMIM:618165 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... |
ORPHA:319552 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... |
OMIM:619481 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... |
OMIM:619111 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... |
ORPHA:540 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
| Polyembryoma |
|
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... |
ORPHA:180229 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... |
OMIM:136300 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Immunodeficiency 27A |
|
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma... |
OMIM:209950 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... |
ORPHA:277 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... |
ORPHA:436159 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... |
OMIM:618987 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... |
OMIM:609529 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... |
OMIM:166600 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... |
ORPHA:60 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Reduced bone mineral density, Abnormal metaphysis morphology, Bowi... |
ORPHA:2501 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... |
OMIM:617974 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Decreased circulating C1q concentration, Recurrent bacterial meningitis |
OMIM:620322 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... |
ORPHA:443811 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... |
ORPHA:75508 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc... |
OMIM:614069 |
| Pfapa Syndrome |
|
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Arthritis, Recurrent p... |
ORPHA:42642 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Autosomal Agammaglobulinemia |
|
Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... |
ORPHA:33110 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... |
OMIM:618969 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... |
ORPHA:83471 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... |
OMIM:619510 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
ORPHA:79230 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
| Immunodeficiency 44 |
|
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... |
OMIM:616636 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... |
OMIM:620532 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... |
OMIM:619902 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Chr... |
OMIM:615592 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... |
ORPHA:90795 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... |
ORPHA:210110 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... |
ORPHA:93284 |
| Immunodeficiency 116 |
|
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... |
OMIM:608957 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... |
ORPHA:168782 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent infections, Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocyt... |
OMIM:614470 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
| 47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
| Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,... |
ORPHA:562 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... |
OMIM:614372 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr... |
ORPHA:79319 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long bone |
ORPHA:1423 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, He... |
OMIM:235200 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Increased serum test... |
ORPHA:96181 |
| Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... |
OMIM:615285 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... |
ORPHA:970 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... |
OMIM:618048 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abnormal enchondral ossific... |
ORPHA:2635 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... |
OMIM:615703 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... |
OMIM:619858 |
| Zika Virus Disease |
|
Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm... |
ORPHA:448237 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... |
OMIM:606069 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t... |
ORPHA:90650 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd... |
OMIM:231530 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Pyle Disease |
|
Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Thin bony cort... |
OMIM:265900 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... |
OMIM:619924 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr... |
OMIM:614102 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Neurofibroma |
ORPHA:2430 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... |
OMIM:137100 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea... |
OMIM:615561 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... |
ORPHA:166277 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... |
OMIM:620632 |
| Cyclic Neutropenia |
|
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe... |
ORPHA:2686 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... |
OMIM:619868 |
| Felty Syndrome |
|
Synovitis, Neutropenia, Recurrent pharyngitis, Chronic otitis media, Abnormal lymphocyte morpholo... |
ORPHA:47612 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Mening... |
ORPHA:464370 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Scedosporiosis |
|
Pneumonia, Unusual CNS infection, Sepsis, Unusual skin infection, Bronchitis, Invasive fungal inf... |
ORPHA:449280 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... |
OMIM:201475 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema |
ORPHA:157991 |
| Bullous Impetigo |
|
Sepsis, Pustule, Glomerulopathy, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Sandal gap, Recurrent otitis media, Absent neutrophil specific granu... |
OMIM:617475 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Complement Component 8 Deficiency, Type I |
|
Decreased circulating complement C8 concentration, Meningitis |
OMIM:613790 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... |
OMIM:619774 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
| Carcinoid Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... |
ORPHA:100093 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... |
OMIM:620321 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hypogonad... |
ORPHA:353298 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Genital ulcers, Panhypogammaglob... |
OMIM:602450 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Arthritis |
ORPHA:2582 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr... |
OMIM:304790 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H... |
OMIM:619048 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... |
OMIM:613779 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane... |
OMIM:615816 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Meningitis, Abdominal pain, Recurrent skin infections, Ost... |
ORPHA:36234 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Avian Influenza |
|
Pneumonia, Myelitis, Sepsis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia, Pleural effu... |
ORPHA:454836 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Sepsis, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, ... |
ORPHA:47 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Protracted diarrhea,... |
ORPHA:331206 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... |
ORPHA:391487 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... |
OMIM:605814 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
| Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Orchitis, Crohn... |
OMIM:249100 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... |
ORPHA:1782 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology |
ORPHA:482 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Sepsis, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Abnormal pleura ... |
ORPHA:549 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Excessive shyness |
OMIM:618221 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... |
OMIM:214900 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... |
OMIM:617872 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Pseudoarthrosis,... |
OMIM:619795 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Meningitis, Herpes simplex encephalitis |
OMIM:617900 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Congenital Enterovirus Infection |
|
Hepatic failure, Sepsis, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Ple... |
ORPHA:292 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... |
OMIM:619752 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... |
OMIM:617093 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... |
ORPHA:35078 |
| Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc... |
OMIM:233600 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom... |
OMIM:615952 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... |
OMIM:614878 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... |
OMIM:619386 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteric cyst |
ORPHA:314473 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hepatocellular carcinoma, Decreased libido, Portal hy... |
ORPHA:465508 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Dysphagia, Thrombocytopenia, Testicul... |
OMIM:222300 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:911 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Malar rash, Autoimmune ... |
OMIM:603909 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatomegaly, Steatorrhea |
OMIM:602579 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content |
ORPHA:293964 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... |
OMIM:618805 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... |
OMIM:615962 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Nausea and vomiting, Anorexia, Infectious encephalitis |
ORPHA:99825 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Membranoproliferative glomerulonephr... |
OMIM:608709 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... |
OMIM:256500 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... |
ORPHA:1525 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... |
OMIM:619638 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures |
OMIM:615066 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Sclerotic vertebral endplates, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... |
ORPHA:628 |
| Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Menorrhagia |
ORPHA:168816 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, A... |
ORPHA:178320 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... |
ORPHA:32960 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid derma... |
OMIM:618282 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Nephrotic syndrome, Renal tubular atrophy, Clubbing, Focal segmental glomerulosclero... |
OMIM:617303 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia |
OMIM:615238 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Meningitis, Herpes simplex encephalitis |
OMIM:613002 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Absc... |
ORPHA:400 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ... |
OMIM:616873 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... |
OMIM:618213 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Metaphyseal striations, Decreased circulating total... |
OMIM:615139 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:614582 |
| Omenn Syndrome |
|
Pneumonia, Sepsis, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinop... |
ORPHA:39041 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... |
ORPHA:158061 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... |
ORPHA:51636 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti... |
ORPHA:1310 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the female genitalia, Eryth... |
ORPHA:228123 |
| Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Abdomina... |
ORPHA:99745 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... |
OMIM:264470 |
| Immunodeficiency 56 |
|
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Hepatic failure, Pan... |
OMIM:615207 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar... |
OMIM:600081 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph... |
OMIM:261750 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Generalized osteosclerosis, Advance... |
OMIM:215045 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... |
ORPHA:90794 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... |
ORPHA:70578 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ... |
ORPHA:486 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... |
OMIM:102700 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Anorexia, Meningitis, Endocarditis, Gra... |
ORPHA:781 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Renal insufficiency, Renal tubular dysfunction, Pancreatitis, Thrombocytopenia, Neutropen... |
ORPHA:289916 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
| Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Recurrent bacterial in... |
OMIM:609814 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... |
OMIM:617241 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph... |
OMIM:615486 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis |
OMIM:616629 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... |
ORPHA:85184 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Nephronophthisis 16 |
|
Cholestasis, Periportal fibrosis, Enlarged kidney |
OMIM:615382 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Diffuse alveolar hemorrhage, Sepsis, Hematuria, Proteinuria, Coombs-positive hemolytic... |
OMIM:614034 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt... |
ORPHA:169079 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Dysphagia, Hypogonadism |
OMIM:160900 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... |
OMIM:615438 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis |
ORPHA:848 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... |
OMIM:300636 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... |
OMIM:300554 |
| Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Reduced social reciprocity |
OMIM:618103 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:264580 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... |
ORPHA:294 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Anisospondyly, Slender finger, Hemiatrophy of upper limb, Delayed patellar ossific... |
ORPHA:163649 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... |
OMIM:614493 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... |
OMIM:615468 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis |
ORPHA:26792 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... |
ORPHA:139402 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... |
ORPHA:1304 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... |
OMIM:616452 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
| Galactose Mutarotase Deficiency |
|
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... |
ORPHA:570422 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... |
OMIM:194380 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... |
OMIM:615577 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent infections, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Pustule, Myo... |
OMIM:615934 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:615630 |
| Listeriosis |
|
Arteritis, Diarrhea, Abscess, Pustule, Meningitis, Abdominal pain, Endocarditis, Unusual CNS infe... |
ORPHA:533 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... |
OMIM:112350 |
| Angiostrongyliasis |
|
Unusual CNS infection, Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... |
OMIM:620210 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology |
ORPHA:1522 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... |
OMIM:617006 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
| Fusariosis |
|
Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia... |
ORPHA:228119 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Primary Biliary Cholangitis |
|
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... |
ORPHA:186 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis |
OMIM:614602 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Wi... |
OMIM:614856 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Bone marrow hypocellularity, H... |
OMIM:301078 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ... |
OMIM:619126 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
| Boutonneuse Fever |
|
Diarrhea, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Abdominal pain, Thrombocytopeni... |
ORPHA:83313 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Finger joint hypermobility, Obesity, Gait disturbance |
ORPHA:436141 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circula... |
OMIM:615607 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... |
OMIM:150550 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Abnormal d... |
OMIM:301000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat... |
OMIM:261680 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... |
ORPHA:73263 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... |
OMIM:619013 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract... |
OMIM:615758 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... |
OMIM:606367 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships |
OMIM:608631 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
| Scrub Typhus |
|
Nausea and vomiting, Skin rash, Splenomegaly, Infectious encephalitis, Abdominal pain, Myocarditi... |
ORPHA:83317 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... |
OMIM:619846 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Nocardiosis |
|
Lymphadenitis, Scleritis, Anorexia, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous ab... |
ORPHA:31204 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Pleural effusion, Otitis media, Increa... |
ORPHA:3392 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... |
ORPHA:53 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... |
ORPHA:1486 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese... |
ORPHA:231154 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... |
ORPHA:169090 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Galactosemia Iii |
|
Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... |
OMIM:616871 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
| Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
| Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis |
ORPHA:199296 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma |
OMIM:270300 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Reduced social reciprocity |
OMIM:606053 |
| Familial Mediterranean Fever |
|
Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Skin rash, Pe... |
ORPHA:342 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice |
ORPHA:172 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... |
ORPHA:75234 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B lymp... |
OMIM:619164 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria |
OMIM:601539 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| Wolman Disease |
|
Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly |
OMIM:620151 |
| Alg1-Cdg |
|
Sepsis, Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Recurrent infections |
ORPHA:79327 |
| Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
| American Trypanosomiasis |
|
Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myo... |
ORPHA:3386 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothy... |
OMIM:618999 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... |
OMIM:606003 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczematoid dermatitis, Increased circulating IgE level, Celiac disease, Recurrent infections, Thy... |
OMIM:618985 |
| Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bones, Thin b... |
OMIM:617952 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... |
OMIM:603553 |
| Microlissencephaly |
|
Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss... |
ORPHA:1083 |
| Shigellosis |
|
Pneumonia, Uveitis, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis,... |
ORPHA:810 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... |
ORPHA:449432 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... |
ORPHA:79240 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo... |
OMIM:241530 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy |
OMIM:618973 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| X-Linked Immunoneurologic Disorder |
|
Abnormal pleura morphology, Decreased circulating IgG2 level, Recurrent respiratory infections |
ORPHA:2571 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Increased circu... |
OMIM:617388 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Abscess, Autoimmune hemolytic anemia, Decre... |
OMIM:619374 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co... |
OMIM:212140 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... |
ORPHA:811 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Sepsis, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Severe infection, Ac... |
ORPHA:36238 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Splenomegaly, Acute myeloid leukemia, Hepatomegaly, Refractory anemia with ringed sider... |
OMIM:133180 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... |
ORPHA:79322 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased ur... |
OMIM:613179 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Bronchitis, Malnutrition, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa... |
ORPHA:890 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly |
OMIM:238970 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent... |
OMIM:618131 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Arthritis, Anemia... |
OMIM:604250 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:79085 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Bloody diarrhea |
ORPHA:391673 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti... |
OMIM:306400 |
| Immunodeficiency 7 |
|
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, N... |
OMIM:615387 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility, Abnormal digit morphology, Hyperlordosis,... |
OMIM:300831 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A... |
OMIM:612260 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Rift Valley Fever |
|
Melena, Hepatitis, Severe viral infection, Skin rash, Infectious encephalitis, Hematemesis, Throm... |
ORPHA:319251 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,... |
OMIM:619217 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... |
OMIM:614921 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroi... |
ORPHA:210548 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent meningitis, Recurrent urinary ... |
OMIM:610984 |
| Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... |
OMIM:619377 |
| Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis |
OMIM:256000 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph... |
OMIM:216360 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Sepsis, Diarrhea, Hepatitis, Vomiting, Lymphopenia, Leukopenia, Incr... |
ORPHA:319218 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur... |
OMIM:616050 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
| Lesch-Nyhan Syndrome |
|
Vomiting, Podagra, Megaloblastic anemia, Testicular atrophy, Dysphagia |
OMIM:300322 |
| Melioidosis |
|
Pneumonia, Sepsis, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Ab... |
ORPHA:31202 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Recurrent bro... |
OMIM:616069 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia, Uveitis |
OMIM:607115 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respirat... |
OMIM:612541 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... |
ORPHA:293978 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent... |
OMIM:612782 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Flared metaphysis, Pathologic fracture, Osteomyelitis, F... |
OMIM:259700 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
| Gorham-Stout Disease |
|
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... |
ORPHA:73 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Rec... |
OMIM:612840 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... |
OMIM:620565 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... |
ORPHA:2097 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Recurrent aphthous stomatitis, Herpes simplex encephalitis |
OMIM:614850 |
| Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hepatomegaly,... |
OMIM:616622 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... |
OMIM:620603 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:363400 |
| Alg12-Cdg |
|
Overlapping fingers, Abnormal circulating IgG level, Recurrent pharyngitis, Hypospadias, Partial ... |
ORPHA:79324 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Diarrhea, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, T... |
ORPHA:90045 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor... |
OMIM:242860 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
| Lyme Disease |
|
Nausea and vomiting, Infectious encephalitis, Arthritis, Meningitis, Uveitis |
ORPHA:91546 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... |
OMIM:256810 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Hematochezia, Atopic dermatitis, Diarrhea, Vomiting, Leukocytosis, Eosinophili... |
ORPHA:2070 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... |
OMIM:617780 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Dysosteosclerosis |
|
Platyspondyly, Osteopenia, Short diaphyses, Broad femoral neck, Flared metaphysis, Sclerosis of h... |
OMIM:224300 |
| Mirage Syndrome |
|
Hypospadias, Sepsis, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymp... |
OMIM:617053 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:435651 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Cryptococcosis |
|
Pneumonia, Vomiting, Osteomyelitis, Peritonitis, Prostatitis, Cirrhosis, Lymphoid leukemia |
ORPHA:1546 |
| Griscelli Syndrome |
|
Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:381 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Whipple Disease |
|
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Anorexia, Malabsorption, Splenomegaly, Infectious... |
ORPHA:3452 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre... |
OMIM:618116 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... |
OMIM:617237 |
| Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... |
OMIM:618086 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
| Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Pleural effusion, Interstitial pneumonitis, Increased circulati... |
ORPHA:723 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density, Coxa valga |
OMIM:616943 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
| Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... |
ORPHA:91138 |
| Omenn Syndrome |
|
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, ... |
OMIM:603554 |
| Lassa Fever |
|
Conjunctivitis, Sepsis, Oliguria, Increased circulating IgM level |
ORPHA:99824 |
| Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... |
OMIM:607330 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... |
ORPHA:247598 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Recurrent infections, Sepsis |
ORPHA:204 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... |
OMIM:604367 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... |
OMIM:615381 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Clinodactyly, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Proteinuri... |
OMIM:603585 |
| Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... |
OMIM:269200 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Finger clinodactyly |
ORPHA:3352 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... |
OMIM:264700 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Cholecystitis, Intestinal obstruc... |
ORPHA:131 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... |
OMIM:615595 |
| Lichen Planopilaris |
|
Hepatitis, Neoplasm of the oral cavity |
ORPHA:525 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
| Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa... |
ORPHA:1332 |
| Meningococcal Meningitis |
|
Sepsis, Skin rash, Infectious encephalitis, Anorexia, Projectile vomiting |
ORPHA:33475 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos... |
OMIM:176920 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to... |
OMIM:609220 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... |
OMIM:277440 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Pleural empyema, Abnormal circulati... |
ORPHA:544482 |
| Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... |
ORPHA:829 |
| Argininosuccinic Aciduria |
|
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ... |
OMIM:207900 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:26791 |
| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... |
OMIM:123000 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Episcleritis, Skin rash, Increased inflammatory r... |
ORPHA:727 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Diarrhea, Graves disease, Adrenocorticotropin defici... |
ORPHA:199299 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea... |
OMIM:259710 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Reduced social reciprocity |
OMIM:608636 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... |
OMIM:231680 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal metap... |
ORPHA:1798 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... |
OMIM:601847 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis, Hip dislocation |
OMIM:619059 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit... |
OMIM:619487 |
| Mednik Syndrome |
|
Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci... |
OMIM:609313 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Thrombocytopenia, Anemia, Me... |
OMIM:267700 |
| Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
| Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... |
ORPHA:69126 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Atopic dermatitis, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,... |
OMIM:215600 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic... |
ORPHA:98849 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
ORPHA:435660 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m... |
OMIM:619381 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... |
ORPHA:779 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... |
OMIM:212138 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gastroparesis, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia... |
OMIM:157640 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, H... |
OMIM:616651 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... |
ORPHA:234 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Kyphosis, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowi... |
OMIM:239000 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Clinodactyly of the 5th finger, Osteopetrosis |
OMIM:617306 |
| Developmental And Epileptic Encephalopathy 111 |
|
Sepsis, Polymicrogyria, Nephrolithiasis, Pulmonary artery stenosis, Recurrent respiratory infecti... |
OMIM:620504 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... |
ORPHA:90280 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema |
ORPHA:70587 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... |
OMIM:616030 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
ORPHA:300536 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytos... |
ORPHA:90038 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningitis, Intestinal lym... |
ORPHA:90362 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... |
ORPHA:71 |
| Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia |
ORPHA:35 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr... |
OMIM:619693 |
| Lamellar Ichthyosis |
|
Sepsis, Renal insufficiency, Erythroderma, Recurrent respiratory infections, Chronic otitis media |
ORPHA:313 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163976 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Good Syndrome |
|
Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morph... |
ORPHA:169105 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
| Pycnodysostosis |
|
Aplastic clavicle, Spondylolysis, Spondylolisthesis, Brachydactyly, Narrow iliac wing, Increased ... |
OMIM:265800 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Severe infection, Leukocytosis |
ORPHA:206594 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg... |
OMIM:300291 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Recurrent lower respiratory tract infections, Acute infec... |
ORPHA:60033 |
| Primary Peritoneal Carcinoma |
|
Peritonitis, Constipation |
ORPHA:168829 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Recurrent viral infections, Decreased circulating total IgG, Shor... |
ORPHA:221139 |
| Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis |
OMIM:615996 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... |
OMIM:602080 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Abnormal metaphysis m... |
ORPHA:2780 |
| Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
| Chronic Granulomatous Disease |
|
Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Sinusitis,... |
ORPHA:379 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... |
ORPHA:98907 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Immunodeficiency 69 |
|
Diarrhea, Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Immunodeficiency 77 |
|
Recurrent tonsillitis, Cutaneous abscess, Gastroparesis, Nontuberculous mycobacterial pulmonary i... |
OMIM:619223 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Japanese Encephalitis |
|
Diarrhea, Vomiting, Anorexia, Infectious encephalitis, Pulmonary edema, Increased circulating ant... |
ORPHA:79139 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells |
ORPHA:477814 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Malabsorption, Intestinal lymphangiectasia |
OMIM:152800 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encep... |
ORPHA:354 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Nephropathy, Sepsis, Avascular necrosis of the capital femoral epip... |
ORPHA:247691 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:275761 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis, Hip dysplasia, Finger joint hypermobility, Metacarpophalangeal joint contracture, Tapered... |
ORPHA:544503 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine,... |
ORPHA:906 |
| Common Variable Immunodeficiency |
|
Pneumonia, Bronchiectasis, Emphysema, Lymphopenia, Decreased circulating antibody level, Splenome... |
ORPHA:1572 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses o... |
ORPHA:2484 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rick... |
ORPHA:89936 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas |
OMIM:134610 |
| Congenital Generalized Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... |
ORPHA:528 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal... |
ORPHA:231226 |
| Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-... |
ORPHA:125 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Transudative pleural effusion, Abnormality of the pulmonary v... |
ORPHA:284227 |
| Hirschsprung Disease |
|
Sepsis, Adducted thumb |
ORPHA:388 |
| Acquired Generalized Lipodystrophy |
|
Lymphoma, Abnormal circulating lipid concentration, Hepatic steatosis, Astrocytoma, Cirrhosis, Hy... |
ORPHA:79086 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Decreased circulating antibody level |
OMIM:617425 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Knee osteoarthritis, Vag... |
ORPHA:2035 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma |
ORPHA:542592 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Reduced social reciprocity |
OMIM:611092 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, A... |
ORPHA:141152 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... |
ORPHA:100 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Steatorrhea |
ORPHA:440713 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Nephrotic syndrome, Heparan... |
ORPHA:505248 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... |
ORPHA:731 |
| Postinfectious Vasculitis |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... |
ORPHA:48435 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Myelo... |
OMIM:127550 |
| Alveolar Echinococcosis |
|
Vomiting, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio... |
ORPHA:284 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... |
ORPHA:412 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchi... |
ORPHA:449563 |
| Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
| Donohue Syndrome |
|
Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... |
ORPHA:228426 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hepatic steatosis, Hyperuricemia, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He... |
ORPHA:79083 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve... |
OMIM:616744 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... |
OMIM:615482 |
| Immunodeficiency 108 With Autoinflammation |
|
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc... |
OMIM:260570 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Hartnup Disease |
|
Malabsorption, Skin rash, Infectious encephalitis |
ORPHA:2116 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... |
OMIM:618042 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus |
ORPHA:168811 |
| Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Pyomyositis |
|
Sepsis, Leukocytosis, Renal insufficiency, Myositis, Recurrent infections, Recurrent cutaneous ab... |
ORPHA:764 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Feeding difficulties in infancy, Chilblains, Increased circulating interferon-g... |
OMIM:612952 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... |
OMIM:178500 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract, Sepsis |
ORPHA:873 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... |
OMIM:615504 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Enlarged kidney |
OMIM:604387 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Viral hepatitis,... |
ORPHA:91139 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Osteogenesis Imperfecta, Type Iv |
|
Femoral bowing present at birth, straightening with time, Recurrent fractures, Biconcave flattene... |
OMIM:166220 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen... |
OMIM:300455 |
| Hyper-Igd Syndrome |
|
Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegal... |
OMIM:260920 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C... |
ORPHA:2314 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... |
ORPHA:293173 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Cortical thickening of long bone diap... |
OMIM:131300 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
| Generalized Pustular Psoriasis |
|
Sepsis, Lymphopenia, Leukocytosis, Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythro... |
ORPHA:247353 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Short neck, Cortical subperiosteal resorption of hume... |
ORPHA:94089 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... |
ORPHA:163971 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis |
OMIM:618648 |
| Cerebral Visual Impairment |
|
Meningitis, Unusual CNS infection, Infectious encephalitis |
ORPHA:447788 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... |
OMIM:619446 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma, Splenomegaly |
ORPHA:66661 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Nausea and vomiting, Abnor... |
ORPHA:847 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... |
OMIM:617591 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Conjunctivitis, Pa... |
OMIM:620376 |
| Sepsis In Premature Infants |
|
Oliguria, Invasive fungal infection, Increased circulating interleukin 6 concentration, Leukocyto... |
ORPHA:90051 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... |
OMIM:212065 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Osteopenia, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bow... |
OMIM:610915 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Sepsis, Wide anterior fontanel |
OMIM:614886 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis |
OMIM:300991 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... |
OMIM:616263 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... |
OMIM:222470 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... |
ORPHA:3243 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly |
ORPHA:2348 |
| Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
| Tick-Borne Encephalitis |
|
Unusual CNS infection, Myelitis, Vomiting, Anorexia, Leukopenia, Abnormal circulating cytokine co... |
ORPHA:297 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infection of the gast... |
ORPHA:263501 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hepatic failur... |
ORPHA:158057 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:261534 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal... |
ORPHA:231214 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... |
ORPHA:1454 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Spondylolysis, Small hand, Rhizomelia, Short finger, Hypoplastic iliac ... |
ORPHA:763 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Atelis Syndrome 1 |
|
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... |
OMIM:620184 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma |
OMIM:615878 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... |
OMIM:243150 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Poliomyelitis |
|
Myelitis, Vomiting, Infectious encephalitis, Paralytic ileus, Nausea, Anorexia, Meningitis, Dysph... |
ORPHA:2912 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated circulating ... |
ORPHA:52430 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s... |
OMIM:214500 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:98908 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... |
OMIM:608233 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
| Behçet Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Meningitis, Endocarditis, Gastrointestinal hemorrh... |
ORPHA:117 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Sandwich appearance of vertebral bodies,... |
OMIM:620558 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:610198 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... |
OMIM:300869 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Peritonitis |
ORPHA:656 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir... |
OMIM:610910 |
| Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Otitis media, Recurrent sinusitis |
OMIM:618781 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly |
OMIM:613385 |
| Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit... |
ORPHA:333 |
| Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto... |
ORPHA:167 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... |
OMIM:170100 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R... |
OMIM:307800 |
| Kid Syndrome |
|
Sepsis, Posterior blepharitis, Folliculitis, Acne inversa, Recurrent candida infections, Keratiti... |
ORPHA:477 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Pulmonary cyst, Diarrhea, Increased circulating IgE level, Eosinophilic infiltrati... |
OMIM:147060 |
| Urachal Cyst |
|
Peritonitis, Leukocytosis, Abscess |
ORPHA:488 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... |
OMIM:301220 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... |
OMIM:259600 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Leukocytosis, Panniculitis, Skin rash, Chronic diarrhea, Increased proportion of CD4-po... |
OMIM:617099 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections, 3-Methylglutaconic aciduria |
OMIM:614739 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... |
ORPHA:79404 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Femoral bo... |
ORPHA:289157 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... |
OMIM:208500 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... |
OMIM:613021 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe... |
ORPHA:432 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... |
ORPHA:228308 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... |
ORPHA:449427 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Skin rash, Intestinal obstruction, Increased inflammatory response, Myos... |
ORPHA:183 |
| Rat-Bite Fever |
|
Sepsis, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocar... |
ORPHA:31205 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... |
OMIM:158330 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level |
ORPHA:100024 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Peritonitis |
ORPHA:567548 |
| Classic Galactosemia |
|
Abnormal erythrocyte enzyme concentration or activity, Sepsis |
ORPHA:79239 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... |
OMIM:618476 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci... |
ORPHA:348 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615505 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hepatomegaly, Jaun... |
OMIM:612714 |
| Stevens-Johnson Syndrome |
|
Sepsis, Abnormality of neutrophils, Abnormality of the urethra, Abnormal pleura morphology, Renal... |
ORPHA:36426 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... |
OMIM:619468 |
| Acquired Purpura Fulminans |
|
Sepsis, Skin rash, Thrombocytopenia |
ORPHA:49566 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
| Hardikar Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:301068 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ... |
OMIM:210200 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Abnormality of the liver, Splenomegaly, Hepato... |
ORPHA:84064 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Ge... |
OMIM:613848 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Pleural effusion, Splenomegaly, Episcleritis, Skin rash, Hematuria, Inflammatory abnor... |
ORPHA:36412 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Calcification of cartilage, Esophagitis,... |
ORPHA:3348 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Maculopapular exanthema,... |
OMIM:619644 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Loeffler Endocarditis |
|
Eosinophilia, Pericarditis |
ORPHA:75566 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Skin rash |
OMIM:601979 |
| Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior |
ORPHA:444002 |
| Toxic Epidermal Necrolysis |
|
Sepsis, Abnormality of the urethra, Abnormal pleura morphology, Renal insufficiency, Pancreatitis... |
ORPHA:537 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Platyspondyly, Rhizomelia, Metaphyseal cupping, Aplastic clavicle, Abnormal... |
ORPHA:50945 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis |
OMIM:613989 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... |
OMIM:611126 |
| Immunodeficiency 31C |
|
Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Gastrointestin... |
OMIM:614162 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N... |
ORPHA:238459 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Episcleritis, Skin rash, Nausea and vo... |
ORPHA:761 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... |
OMIM:614924 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Elevated circulating hepatic transa... |
ORPHA:298 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased serum test... |
OMIM:201100 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... |
OMIM:608836 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Sepsis |
ORPHA:280062 |
| Netherton Syndrome |
|
Recurrent infections, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Malabsor... |
ORPHA:634 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Vomiting, Respirato... |
ORPHA:68 |
| Cysticercosis |
|
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... |
ORPHA:1560 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased proportion of CD8-positive T cell... |
ORPHA:508533 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ... |
OMIM:612567 |
| Acute Disseminated Encephalomyelitis |
|
Post-vaccination measles, Myelitis, Vomiting, Herpes simplex encephalitis, Severe parainfluenza i... |
ORPHA:83597 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Respiratory tr... |
OMIM:619445 |
| Fanconi-Bickel Syndrome |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... |
ORPHA:2088 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... |
OMIM:617718 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Hepato... |
ORPHA:85414 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... |
ORPHA:98848 |
| Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Breast aplasia, Cryptorchidism, Meconium peritonitis, Micropenis, Hypospadias |
OMIM:617063 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Abnormalit... |
ORPHA:79320 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... |
ORPHA:542323 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome... |
OMIM:266200 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ... |
OMIM:277900 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... |
ORPHA:2658 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medullary cavi... |
OMIM:127000 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Splenomegaly, Hepatitis |
ORPHA:584 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C4 concentration, Membranoproliferative glomeru... |
ORPHA:329918 |
| Delayed Puberty, Self-Limited |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... |
OMIM:619613 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... |
OMIM:615190 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepat... |
OMIM:613327 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Diarrhea, Oral-pharyngeal dysphagia, Decreased response to gro... |
ORPHA:273 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Polysplenia, Atelect... |
ORPHA:244 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... |
ORPHA:158048 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... |
ORPHA:90796 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Diar... |
ORPHA:420741 |
| Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Hepatic steatosis, Reduced cystathionine beta-synthase activity in cultured f... |
OMIM:236200 |
| Mhc Class I Deficiency 1 |
|
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... |
OMIM:604571 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Penile freckling, Decreased circulating antibody level, Sple... |
OMIM:605309 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:614679 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Cheilitis, Hepatitis |
ORPHA:1334 |
| Seckel Syndrome 10 |
|
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... |
OMIM:617253 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
| Cleft Velum |
|
Nasal regurgitation, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis media, Poo... |
ORPHA:99772 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythrode... |
OMIM:614328 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... |
ORPHA:3260 |
| Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
| Bronchiolitis Obliterans |
|
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection |
ORPHA:1303 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Abnormal epiphysis morphology, Premature epimetap... |
ORPHA:85435 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612649 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... |
ORPHA:3206 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Hepa... |
OMIM:618278 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:618329 |
| Adams-Oliver Syndrome |
|
Ascites, Cirrhosis, Portal hypertension, Congenital hepatic fibrosis |
ORPHA:974 |
| Rigid Spine Syndrome |
|
Pneumonia, Hip contracture |
ORPHA:97244 |
| Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... |
OMIM:613470 |
| Myasthenia Gravis |
|
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis |
ORPHA:589 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... |
OMIM:619971 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol... |
ORPHA:90652 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellu... |
OMIM:613490 |
| Cleidocranial Dysplasia 1 |
|
Aplastic clavicle, Spondylolysis, Hypoplastic scapulae, Hip dislocation, Short femoral neck, Hypo... |
OMIM:119600 |
| Dent Disease |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... |
ORPHA:1652 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased susceptibility to fractures,... |
OMIM:166200 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Reduced social reciprocity |
ORPHA:397933 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... |
OMIM:256040 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ... |
OMIM:230600 |
| Systemic Lupus Erythematosus 17 |
|
Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm... |
OMIM:301080 |
| Hsd10 Disease |
|
Short attention span, Abnormal social behavior |
ORPHA:391417 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615500 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections, Feeding difficulties in infancy, Poor suck |
ORPHA:596 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic... |
OMIM:620076 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Sepsis, Decreased circulating antibody level, Anemia, Recurrent infections, Recurrent skin infect... |
ORPHA:79396 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... |
ORPHA:2357 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... |
OMIM:616481 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Reduced social reciprocity |
OMIM:617820 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... |
ORPHA:227990 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Abdominal di... |
ORPHA:90003 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Kyphosis, Abnormal form of the vertebral bodies, Abnormal cortica... |
ORPHA:2769 |
| Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Vomiting, Abdominal colic, Volvulus, Decreased circulating IgG1 level, Lymph... |
ORPHA:90363 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Reduced social reciprocity |
ORPHA:329249 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Gastrointestinal hemorrhage, Arteritis |
ORPHA:679 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal tibia morphology, Abn... |
ORPHA:249 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis |
OMIM:613193 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ... |
OMIM:613095 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:608647 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Broad-based gait, Omphalocele, Increased body mass index |
OMIM:614450 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... |
OMIM:615846 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating IgG2 lev... |
ORPHA:1493 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Pleural effusion, Splenomegaly, Increased c... |
ORPHA:29073 |
| Arima Syndrome |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis |
OMIM:618309 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Atopic dermatitis, Thrombocyt... |
OMIM:618624 |
| Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H... |
OMIM:229600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
OMIM:124000 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... |
ORPHA:453533 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Gastroesophageal reflux, Decreased circulating IgA level, Anemia... |
OMIM:620040 |
| Incontinentia Pigmenti |
|
Keratitis, Skin rash, Infectious encephalitis, Eosinophilia, Uveitis |
ORPHA:464 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Lymphopenia, Increased circulating IgA level, Neutropenia, Recurrent infecti... |
OMIM:616395 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ... |
OMIM:613807 |
| Incontinentia Pigmenti |
|
Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Eosinophilia, H... |
OMIM:308300 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Diarrhea, Vomiting, Decreased circulating IgA level, Pancytopeni... |
OMIM:275350 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Ple... |
OMIM:619573 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Obesity |
ORPHA:88643 |
| Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
| Reni Syndrome |
|
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Micropenis |
OMIM:617575 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... |
OMIM:240300 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Sepsis, Aspiration pneumonia, Leukocytosis, Proteinuria, Myoglobinuria, Thro... |
ORPHA:94093 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis |
OMIM:611884 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Meningioma, Hyp... |
ORPHA:189427 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Aplasia of the uterus, Eo... |
OMIM:274000 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:137831 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... |
ORPHA:227982 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Chronic ... |
OMIM:203800 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Garg-Mishra Progeroid Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis |
OMIM:620601 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis |
OMIM:617092 |
| Alexander Disease |
|
Nausea and vomiting, Infectious encephalitis, Constipation, Dysphagia, Bowel incontinence |
ORPHA:58 |
| Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis |
OMIM:617091 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Slender long bone, Anemia, Recurrent bacterial infections, Short foot, Short palm |
OMIM:244460 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... |
OMIM:612650 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:3455 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceri... |
OMIM:151660 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... |
OMIM:613808 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated... |
OMIM:615356 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc... |
OMIM:620005 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Hypoplastic ilia, Short distal phalanx of finger, Chronic kidney disease, Granuloma, H... |
ORPHA:1855 |
| Wiedemann-Rautenstrauch Syndrome |
|
Pneumonia, Long penis, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone lev... |
OMIM:264090 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Confusion, Dementia, Semantic dementia, Abnormal social behavior |
ORPHA:1020 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis |
ORPHA:94063 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue |
ORPHA:71526 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Hepat... |
OMIM:615273 |
| Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... |
ORPHA:79444 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Ulcerative colitis, Xanthelasma, Abnormal cir... |
ORPHA:79259 |
| Pachydermoperiostosis |
|
Small hand, Clubbing of toes, Limitation of joint mobility, Abnormal epiphysis morphology, Osteom... |
ORPHA:2796 |
| Secondary Short Bowel Syndrome |
|
Sepsis, Enterocolitis |
ORPHA:95427 |
| Werner Syndrome |
|
Chondrocalcinosis, Slender build, Joint stiffness, Lipodystrophy, Osteoporosis, Lipoatrophy, Incr... |
ORPHA:902 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:614935 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Gastroesophageal reflux, Insulin-resistant diabetes mellitus, Microcyt... |
ORPHA:2959 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... |
OMIM:244400 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections |
ORPHA:309288 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Sarcoidosis |
|
Abnormal reproductive system morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephr... |
ORPHA:797 |
| Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Decreased circulating antibody level, Ovarian c... |
OMIM:158350 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Nasogastric tube feeding in infancy, Dysphagia, Aspiration pneumonia |
ORPHA:90117 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diarrhea, Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Ad... |
ORPHA:99889 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... |
OMIM:618699 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... |
OMIM:614839 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:254346 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Left ventricular hypertrophy, Biliary tract abnormality |
OMIM:209900 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Sepsis, Hydroureter, Fetal megacystis |
OMIM:619362 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... |
OMIM:261515 |
| Schwartz-Jampel Syndrome |
|
Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, Short neck, Protrusi... |
ORPHA:800 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis |
ORPHA:436271 |
| Rothmund-Thomson Syndrome Type 2 |
|
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Pathologic fracture, Metaph... |
ORPHA:221016 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
ORPHA:445038 |
| Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg... |
OMIM:116920 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Patent ductus arteriosus, Pyelonephritis |
OMIM:619351 |
| Follicular Lymphoma |
|
Meningitis, Pleural effusion, Splenomegaly |
ORPHA:545 |
| Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hypoc... |
OMIM:218330 |
| Currarino Syndrome |
|
Sepsis, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Perianal abs... |
OMIM:176450 |
| Chikungunya |
|
Diarrhea, Vomiting, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovit... |
ORPHA:324625 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... |
ORPHA:289390 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinophilic infiltratio... |
OMIM:615508 |
| Cushing Disease |
|
Acne, Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urina... |
ORPHA:96253 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Flared metaphysis, Osteopetrosis, Decreased osteoclast count, Increased bon... |
OMIM:259720 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Short thumb, I... |
ORPHA:2909 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hamartoma of tongue, Hepatic fibrosis, Pancreatic fibrosis |
OMIM:263520 |
| Monosomy 13Q34 |
|
Hypercalcemia, Hepatic steatosis |
ORPHA:96168 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, Metaphysea... |
ORPHA:99646 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... |
OMIM:608594 |
| Interstitial Cystitis |
|
Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ... |
ORPHA:37202 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Hypocalcemia, Chronic hepatic failure, Left ventricular hypertrophy, Diffuse hepatic... |
ORPHA:746 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic vertebral endp... |
ORPHA:2905 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Elevated circu... |
ORPHA:263455 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Pleuritis, Splenome... |
ORPHA:809 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... |
ORPHA:728 |
| Bloom Syndrome |
|
Lymphoma, Malar rash, Hepatic steatosis, Squamous cell carcinoma, Leukemia, Elevated hemoglobin A... |
OMIM:210900 |
| Crimean-Congo Hemorrhagic Fever |
|
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Neutrophilia, A... |
ORPHA:99827 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Short foot, Short palm |
OMIM:241410 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Osteomyelitis, Increased circulating renin level, Pustule, Hyp... |
ORPHA:171876 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:185000 |
| Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
| Rothmund-Thomson Syndrome Type 1 |
|
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... |
ORPHA:221008 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... |
ORPHA:2032 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties |
ORPHA:171442 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Short iliac bones, Recurrent otitis media, Lymphopenia, Metaphys... |
OMIM:607944 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... |
OMIM:269700 |
| Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... |
ORPHA:79443 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Cone-shaped epiphysis, Arthritis, Short metatarsal, Ectopic kidney, Short metacarpal |
OMIM:613328 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Nasogastric tube feeding, Aspiration pneumonia |
OMIM:619057 |
| Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... |
ORPHA:509 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Cho... |
OMIM:266920 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... |
OMIM:242900 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Micromelia, Metatarsus adductus |
ORPHA:35107 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertrig... |
ORPHA:280365 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Reduced social reciprocity |
OMIM:617051 |
| Raine Syndrome |
|
Micromelia, Long hallux, Bowing of the long bones, Short neck, Subperiosteal bone formation, Brac... |
OMIM:259775 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Osteomyelitis, Increased bone mineral density, Abnormal metaphysis... |
ORPHA:35687 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Abnormal penis morphology, Acute kidney injury, Sepsis, Inflammatory abnormality of th... |
ORPHA:95455 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy secondary to cranial hy... |
OMIM:269500 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hamartoma of tongue, Hepatic cysts, Hypothalamic hamartoma, Pancreatic cysts |
OMIM:311200 |
| Myelofibrosis |
|
Hepatomegaly, Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight, Osteopenia, Dorsocervical fat pad, Osteoporosis |
OMIM:615830 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight, Gait disturbance, Generalized joint hypermobility |
ORPHA:589905 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int... |
OMIM:612387 |
| Kawasaki Disease |
|
Hypoalbuminemia, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Elevated circulating C-reac... |
ORPHA:2331 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... |
OMIM:616037 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... |
OMIM:313900 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the eye, Anemia, Men... |
ORPHA:1451 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Severe infection, Sepsis |
ORPHA:505395 |
| Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Cognitive impairment, Reduced social reciprocity |
ORPHA:561854 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... |
ORPHA:733 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus... |
OMIM:603467 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
| Radiation Proctitis |
|
Hematochezia, Arteritis, Sepsis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstr... |
ORPHA:70475 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Brain abscess, Abdominal pain, Neutrophilia, Anemia, Abnormal lung morphology, Liver ab... |
ORPHA:54251 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615444 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Menkes Disease |
|
Sepsis, Osteomyelitis, Bowing of the long bones, Bladder diverticulum, Tarsal synostosis, Abnorma... |
ORPHA:565 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... |
ORPHA:1772 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Abnormal shoulder ... |
ORPHA:85436 |
| Mevalonic Aciduria |
|
Recurrent infections, Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosple... |
OMIM:610377 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch... |
ORPHA:436252 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis, Increased circulating antibody level |
ORPHA:48377 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Short foot, Spinal canal stenosis |
ORPHA:2323 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Vomiting, Hyperactive renin-angiotensin system, Abnormal female external genitalia mor... |
ORPHA:90790 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia, Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Mannosidosis, Alpha B, Lysosomal |
|
Femoral bowing, Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased c... |
OMIM:248500 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Ascites, Hamartoma of tongue, Splenomegaly, Hepatomegaly |
OMIM:269860 |
| Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... |
ORPHA:355 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Glomerulonephritis, T... |
ORPHA:470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck, Thin bony cortex, Long fingers, Ost... |
OMIM:309583 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa... |
OMIM:220110 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hyperuricemia, Lipid acc... |
ORPHA:20 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... |
OMIM:619534 |
| Familial Adenomatous Polyposis 1 |
|
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode... |
OMIM:175100 |
| Timothy Syndrome |
|
Pneumonia, Recurrent infections, Cutaneous syndactyly, Bronchitis |
OMIM:601005 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Desmosterolosis |
|
Joint contracture of the hand, Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinova... |
OMIM:602398 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Sepsis, Hydroureter, Megacystis |
ORPHA:2241 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... |
ORPHA:101096 |
| Pearson Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin... |
ORPHA:699 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased susceptibility to fractures, Osteolysis |
ORPHA:77261 |
| Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Aspiration pneumonia, Neutropenia, Dysphagia, Bronchiectasis, Feeding difficulties |
OMIM:618253 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Cuboid-shaped vertebral bodies, T... |
OMIM:612731 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis |
ORPHA:101006 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sepsis, Prominent fingertip pads, Sandal gap, Pulmonary hemorrhage, Clinodactyly of the 5th finge... |
ORPHA:363611 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Hepatic steatosis |
OMIM:616271 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis |
OMIM:614017 |
| Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... |
ORPHA:411703 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... |
OMIM:613658 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent upper respiratory tract infections, Celiac disease, Infectious encephalitis, Gastrointe... |
ORPHA:293987 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Dysphagia |
ORPHA:2590 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,... |
ORPHA:330015 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Renal insuf... |
OMIM:603903 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Microcytic anemia, Recurrent ... |
ORPHA:99843 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l... |
OMIM:614946 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232220 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Enlarged kidney, Abnormal liver lobulation |
OMIM:608022 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Brachy... |
OMIM:277600 |
| Spondyloocular Syndrome |
|
Platyspondyly, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Thin bony c... |
OMIM:605822 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity, Enamel hypoplasia |
OMIM:612463 |
| Young-Onset Parkinson Disease |
|
Depression, Frontal lobe dementia, Short attention span, Reduced social reciprocity, Cognitive im... |
ORPHA:2828 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, Dysphagia, Thyro... |
ORPHA:64744 |
| Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:619525 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurr... |
OMIM:251260 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... |
OMIM:607143 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... |
ORPHA:79329 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased body weight, Osteoporosis, Abdominal obesity |
OMIM:615954 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Sclerosis of skull base, Increased intervertebral space, Diaph... |
OMIM:619727 |
| Yellow Nail Syndrome |
|
Nephropathy, Recurrent respiratory infections, Sinusitis, Renal neoplasm, Rhinitis, Pleuritis, Br... |
ORPHA:662 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Congenital Syphilis |
|
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... |
ORPHA:499009 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Recurrent infections, Bronchiectasis |
OMIM:615434 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Hepatic failure, Anorexia, Hypersplenism, Hepatosplenomegaly, Pancytopenia, L... |
ORPHA:77259 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Clubbing, Hypersensit... |
ORPHA:79127 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... |
ORPHA:309271 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Keratitis, Vomiting, Aspiration pneumonia, Nasogastric tube feeding, Abn... |
ORPHA:1018 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Depression, Short attention span, Reduced social reciprocity, Irritability, Attention deficit hyp... |
ORPHA:449291 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flared metaphysis, Cortical irregularity, Anterior concavity of thoracic vertebrae, K... |
OMIM:249420 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Epiphyseal stippling, Small for gestational age |
OMIM:274300 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis |
OMIM:606763 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Abn... |
OMIM:181000 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm |
OMIM:109350 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Abnormal form of the vertebral bodies, Cranial hyperostosis, Camptodactyly of fin... |
ORPHA:2710 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Recur... |
OMIM:620233 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99226 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis, Chapped lip, Recurrent skin infections, Urethral stricture, Cheilitis |
ORPHA:158668 |
| Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:881 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Lymphopenia |
ORPHA:391307 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Chronic kidney disease, Acute kidney injury, Oliguria, Increased circulating interleuk... |
ORPHA:340 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:17 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Dysphagia, Aspiration pneumonia |
ORPHA:52368 |
| Plague |
|
Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash,... |
ORPHA:707 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoco... |
ORPHA:79078 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Recurrent infections, Chronic decreased circulating IgG1, Chronic diarrhea |
OMIM:300953 |
| Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia |
ORPHA:98897 |
| Narcolepsy 7 |
|
Narcolepsy, Obesity |
OMIM:614250 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529808 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... |
OMIM:615688 |
| Meckel Syndrome |
|
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... |
ORPHA:564 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial pneumonitis, ... |
ORPHA:454831 |
| Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis |
OMIM:618063 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
ORPHA:110 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Rec... |
ORPHA:79243 |
| Trichothiodystrophy |
|
Osteopenia, Umbilical hernia, Gait ataxia, Multiple joint contractures, Absence of subcutaneous f... |
ORPHA:33364 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... |
ORPHA:1830 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Emotional lability, Abnormal social behavior, Progressive psychomotor deter... |
ORPHA:309263 |
| Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Hepatic cysts, Enlarged kidney |
ORPHA:79328 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Osteopet... |
ORPHA:667 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... |
ORPHA:91500 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Reduced social reciprocity |
OMIM:619738 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis |
ORPHA:567544 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Hepat... |
ORPHA:79330 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
| Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l... |
OMIM:243800 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification... |
ORPHA:666 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Attention deficit hyperactivity disorder, Short attention span, Reduced social reciprocity, Brady... |
OMIM:617854 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... |
OMIM:601675 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
| Perrault Syndrome 4 |
|
Osteoporosis, Obesity, Gait ataxia, Disproportionate tall stature |
OMIM:615300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Meconium ileus, Recurrent Burkholderia cepacia infections, Recurrent Asp... |
ORPHA:586 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Serositis, Thrombocytopenia, Anemia, Pericarditis |
ORPHA:231111 |
| Scleromyxedema |
|
Abnormal pulmonary artery morphology, Gastroesophageal reflux, Paraproteinemia, Abnormality of th... |
ORPHA:167635 |
| Encephalitis Lethargica |
|
Recurrent viral infections, Bowel incontinence, Increased circulating antibody level |
ORPHA:83600 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Recurrent intrapulmonary hemorrhage, Nausea and vomiting, Otitis med... |
ORPHA:900 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
| Myoclonic-Astatic Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal emotion, Reduced social reciprocity |
ORPHA:1942 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Gout, Hyp... |
OMIM:232240 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Increased circulatin... |
ORPHA:85443 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... |
ORPHA:71272 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... |
ORPHA:3044 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Gastroesophageal reflux, Splenomegaly, Thrombocytopenia, Protuberant abdomen, Anem... |
OMIM:230900 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrhage, Hemoth... |
ORPHA:2038 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Cognitive impairment, Reduced social reciprocity |
OMIM:615157 |
| Weill-Marchesani Syndrome 2 |
|
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Lumbar hyp... |
OMIM:608328 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Subpleural interstitial thic... |
ORPHA:79128 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| Occipital Horn Syndrome |
|
Hepatitis, Cholestasis, Esophagitis, Exostoses, Jaundice |
ORPHA:198 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Beck-Fahrner Syndrome |
|
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity |
OMIM:618798 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hypoplastic acetab... |
OMIM:253200 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,... |
OMIM:223370 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Uveitis, Diarrhea, Vomiting, Lymphopenia, Abnormal lymphoc... |
ORPHA:99826 |
| Chromomycosis |
|
Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca, Keratitis |
ORPHA:182 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tube feeding, Dysphagia, Aspiration pneumonia |
ORPHA:79264 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cryptorchidism, Hypothyroidism, Micropenis, Anemia, Diabetes mellitus |
OMIM:616541 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B... |
ORPHA:508542 |
| Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Broad long bone di... |
ORPHA:79255 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age |
ORPHA:254534 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Short finger |
ORPHA:1867 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Increased hepatic glycogen content |
OMIM:619259 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Finger aplasia, Hypospadias, Renal hypoplasia, Hypoplastic radial head, Reduced renal ... |
OMIM:122470 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia... |
ORPHA:93552 |
| Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
ORPHA:86816 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Feeding difficulties |
ORPHA:98905 |
| 48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... |
ORPHA:96263 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Acute infectious pneumonia |
ORPHA:140896 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Viss Syndrome |
|
Atopic dermatitis, Gastroesophageal reflux, Eczematoid dermatitis, Increased circulating IgE leve... |
OMIM:619472 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Reduced social reciprocity |
ORPHA:544254 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Brachydactyly, Short palm, Camptodactyly of finger |
ORPHA:2176 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Recurrent respiratory infections, Hyperechogenic kidneys, Proximal femoral... |
ORPHA:397715 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho... |
OMIM:300868 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Panniculitis, Transi... |
ORPHA:3132 |
| Yellow Fever |
|
Diarrhea, Vomiting, Opportunistic infection, Leukocytosis, Skin rash, Nausea, Hematemesis, Thromb... |
ORPHA:99829 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Clinodactyly of the 5th finger, Camptodactyly of finger |
ORPHA:2135 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Attention deficit hyperactivity disorder, Progressive language deterioration, Reduced social reci... |
OMIM:610042 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Left ventricular hypertrophy, Hypertrigl... |
OMIM:619127 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Reduced social reciprocity |
OMIM:616083 |
| Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:319213 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Peripartum Cardiomyopathy |
|
Anemia, Abdominal pain, Increased circulating interferon-gamma concentration, Myocarditis |
ORPHA:563 |
| Atypical Werner Syndrome |
|
Lipoatrophy, Chondrocalcinosis, Limitation of joint mobility, Failure to thrive, Sclerosis of han... |
ORPHA:79474 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Anorexia, Abnormal pulmonary inte... |
ORPHA:97287 |
| Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Abnormal morph... |
ORPHA:93 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Meconium ileus, Exocrine pancreatic insufficiency, Hepatosplenomeg... |
OMIM:219700 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Hepatic steatosis |
OMIM:619321 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Reduced social reciprocity |
ORPHA:254531 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus |
ORPHA:2976 |
| Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopen... |
ORPHA:309282 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
| Atypical Rett Syndrome |
|
Inappropriate laughter, Reduced social reciprocity |
ORPHA:3095 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia |
OMIM:253700 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... |
ORPHA:95430 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Camptodactyly of finger, Olig... |
ORPHA:2273 |
| Trichinellosis |
|
Increased circulating IgE level, Skin rash, Nausea, Meningitis, Conjunctivitis, Dysphagia |
ORPHA:863 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Hypoalbuminemia, Eczematoid dermatitis, Recurrent otitis media, Hypoch... |
OMIM:270400 |
| Immunodeficiency 55 |
|
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent... |
OMIM:617827 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Osteoporosis, Obesity, Reduced bone mineral density, Recurrent fractures |
ORPHA:2235 |
| Giant Cell Arteritis |
|
Hepatic failure, Anorexia, Gastrointestinal infarctions, Abnormal pleura morphology, Abdominal pa... |
ORPHA:397 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia |
OMIM:258865 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... |
ORPHA:64 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Pancreatitis, Organic aciduria, Aspiration pneumonia |
ORPHA:431361 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia |
ORPHA:216866 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Patent Urachus |
|
Recurrent urinary tract infections, Cystocele, Recurrent gram-negative bacterial infections, Pate... |
ORPHA:431341 |
| Insulinoma |
|
Increased body weight, Lethargy |
ORPHA:97279 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas |
ORPHA:935 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Neutropenia |
OMIM:250940 |
| Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Gastroparesis, Recurrent infections due to aspiration, Constipation, Rec... |
ORPHA:70 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Kikuchi-Fujimoto Disease |
|
Anorexia, Leukopenia, Malar rash, Pleural effusion, Splenomegaly, Skin rash, Pustule, Myocarditis... |
ORPHA:50918 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abdominal pain, Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
| Degcags Syndrome |
|
Chronic kidney disease, Toe syndactyly, Hepatosplenomegaly, Pancytopenia, Genu valgum, Abnormal r... |
OMIM:619488 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Failure to thrive, Increased body weight, Lethargy, Abdominal obesity, Osteoporosis, ... |
ORPHA:398069 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia, Abnormal lung morphology, Abnormality of the gastrointestinal tract |
ORPHA:439232 |
| Wagro Syndrome |
|
Emotional lability, Low frustration tolerance, Reduced social reciprocity |
OMIM:612469 |
| Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Rectovaginal fistula, Dysphagia, Bronchiectasis |
OMIM:619708 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Neurofibroma, Abnormal abdomen morpholog... |
OMIM:619475 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Aspiration pneumonia, Heparan sulfate excretion in urine, Avascular necros... |
ORPHA:581 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
| Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Pancytopenia, Anorexia, Abdominal pain, Bronchiolitis obliterans, Dysphagia... |
ORPHA:99921 |
| Lissencephaly Due To Lis1 Mutation |
|
Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Dysgyria, Posterior predomina... |
ORPHA:95232 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Epiphyseal dysplasia, Short foot, Brachydactyly |
OMIM:617809 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Mercury Poisoning |
|
Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anorexia, Nausea |
ORPHA:330021 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Memory impairment, R... |
OMIM:615656 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia, Chronic constipation |
OMIM:300472 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst |
OMIM:620371 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia |
OMIM:302060 |
| Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Umbilical hernia, Failure to thrive in infancy, Abnormal dental... |
ORPHA:904 |
| Chops Syndrome |
|
Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Brachydactyly, Anoma... |
OMIM:616368 |
| Meningioma |
|
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... |
ORPHA:2495 |
| Infantile Neuroaxonal Dystrophy |
|
Constipation, Aspiration pneumonia |
ORPHA:35069 |
| 1P36 Deletion Syndrome |
|
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Neurobl... |
ORPHA:1606 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Short attention span, Emotional lability, Reduced social reciprocity, Delayed early-childhood soc... |
ORPHA:300570 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
| Marshall-Smith Syndrome |
|
Slender finger, Recurrent upper respiratory tract infections, Short distal phalanx of finger, Pro... |
OMIM:602535 |
| Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Vomiting, Inflammatory abnormality of the skin, Feeding difficulties |
ORPHA:26793 |
| Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:93932 |
| Miller-Dieker Lissencephaly Syndrome |
|
Pachygyria, Polydactyly, Pelvic kidney, Camptodactyly, Clinodactyly of the 5th finger, Recurrent ... |
OMIM:247200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Emotional lability, Low frustration tolerance, Reduced social reciprocity |
OMIM:309520 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... |
OMIM:619482 |
| Ogden Syndrome |
|
Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Microvesicular hepatic steatos... |
OMIM:300855 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspir... |
ORPHA:79318 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Splenomegaly |
ORPHA:75565 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
| Digeorge Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatic steatosis, Rec... |
OMIM:188400 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Reduced social reciprocity |
OMIM:614961 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Recurrent upper respiratory tract infections, Clinodactyly, Aspiration pneumoni... |
ORPHA:1465 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:613990 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria, Aspiration pneumonia |
OMIM:619167 |
| Sotos Syndrome |
|
Increased body weight, Tall stature, Joint hypermobility, Overgrowth |
OMIM:117550 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Feeding difficulties, Chronic constipation, Aspiration pneumonia |
OMIM:616430 |
| Cholera |
|
Vomiting, Diarrhea, Aspiration pneumonia, Achlorhydria, Abdominal pain, Abdominal cramps |
ORPHA:173 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad ... |
ORPHA:353281 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Constipation, Decreased circula... |
OMIM:617062 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Inappropriate laughter, Short attention span, Reduced social reciprocity |
OMIM:156200 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis |
ORPHA:79138 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Atopic dermatitis, Fetal ascites, Hypomagnesemia, Cholestasis, Recurrent otitis media, Hepatosple... |
OMIM:619503 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Reduced social reciprocity |
OMIM:256600 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Broad thumb, Abnormality of the kidney, Hypospadias, Syndactyly, Avascular necrosis of the capita... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Broad thumb, Abnormality of the kidney, Hypospadias, Syndactyly, Avascular necrosis of the capita... |
ORPHA:353277 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... |
ORPHA:51 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Malnutrition, Iron deficiency anemia, Glomerulonephritis, Gastrointestin... |
ORPHA:79408 |
| Acute Transverse Myelitis |
|
Severe viral infection, Invasive parasitic infection, Gastroparesis, Disseminated nontuberculous ... |
ORPHA:139417 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Left ventricular hypertrophy, Hyperammonemia, Microvesicular hepatic steatosis, Increased hepatoc... |
OMIM:220111 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:261197 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:1675 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Malnutrition, Aspiration pneumonia, Constipation, Dysphagia |
ORPHA:99027 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Small hand, Proportionate shortening of all digits, Abnorma... |
ORPHA:280633 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Osteomyeliti... |
ORPHA:642 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:300352 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Rett Syndrome, Congenital Variant |
|
Reduced social reciprocity, Irritability |
OMIM:613454 |
| Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Reduced social reciprocity |
ORPHA:177907 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Gastroesophageal reflux, Decreased serum testosterone concentration, Absent scrotum,... |
ORPHA:495875 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Cheilit... |
ORPHA:536 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Myositis, Arthritis, Myocarditis, Dys... |
ORPHA:221 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dysphagia, Increased circulating antibody level |
OMIM:606002 |
| Alg11-Cdg |
|
Reduced social reciprocity |
ORPHA:280071 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Depression, Low frustration tolerance... |
ORPHA:646 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Wolcott-Rallison Syndrome |
|
Lymphocytosis, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Sandal gap, Recurrent urinary tract infections, Recurrent otitis ... |
OMIM:616268 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia |
OMIM:301072 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227645 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Erythema ... |
OMIM:613471 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Sheehan Syndrome |
|
Hashimoto thyroiditis, Constipation, Chronic lymphocytic meningitis, Nausea, Normochromic anemia,... |
ORPHA:91355 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... |
OMIM:557000 |
| Kabuki Syndrome 1 |
|
Recurrent infections, Short 5th finger, Congenital hip dislocation, Prominent fingertip pads, Rec... |
OMIM:147920 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Gastroesophageal reflux, Emphysema, Gastroparesis, Secretory IgA... |
ORPHA:500150 |
| Tay-Sachs Disease |
|
Dysphagia, Gastrostomy tube feeding in infancy, Aspiration pneumonia |
ORPHA:845 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
| Robinow Syndrome |
|
Webbed penis, Small scrotum, Decreased serum testosterone concentration, External genital hypopla... |
ORPHA:97360 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati... |
ORPHA:79500 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Nasogastric tube feeding in infancy, Recurrent respiratory infections, Dysp... |
ORPHA:2020 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis, Nausea and vomiting |
ORPHA:91351 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Aspiration pneumonia, Hypoplasia of proximal radius, Horseshoe kidney, Vesicoureteral... |
ORPHA:444077 |
| Charge Syndrome |
|
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Congenital Disorder Of Deglycosylation 2 |
|
Reduced social reciprocity |
OMIM:619775 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Inappropriate laughter, Overf... |
ORPHA:363958 |
| Phelan-Mcdermid Syndrome |
|
Reduced social reciprocity |
OMIM:606232 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227646 |
| Tuberous Sclerosis Complex |
|
Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:805 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Reduced social reciprocity |
OMIM:300912 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Flat acetabular roof, H... |
OMIM:216340 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Revesz Syndrome |
|
Macrocytic anemia, Aplastic anemia, Neutropenia |
OMIM:268130 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Sacral Defect With Anterior Meningocele |
|
Meningitis, Constipation, Rectal abscess |
OMIM:600145 |
| Semilobar Holoprosencephaly |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal tract morpholo... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal tract morpholo... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal tract morpholo... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal tract morpholo... |
ORPHA:93924 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumonitis, Splenomegaly,... |
ORPHA:77293 |
| Opitz Gbbb Syndrome |
|
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Recurrent aspiration pn... |
ORPHA:2745 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
| Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Pulmonary hypoplasia, Periventricular heterotopia, Absent distal ... |
OMIM:612289 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Helsmoortel-Van Der Aa Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity, Irritability |
OMIM:615873 |
| Adnp Syndrome |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity |
ORPHA:404448 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Aspiration pneumonia, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Hip dysplasia, Anemia |
ORPHA:438213 |
| 7Q11.23 Microduplication Syndrome |
|
Reduced social reciprocity |
ORPHA:96121 |
| Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Hepatoblastoma, Splenomegaly, Polysplenia |
ORPHA:373 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
| Lafora Disease |
|
Recurrent aspiration pneumonia, Hepatic failure, Nasogastric tube feeding |
ORPHA:501 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Reduced social reciprocity |
ORPHA:457359 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Carney Complex |
|
Increased body weight, Tall stature, Dorsocervical fat pad, Abdominal obesity |
ORPHA:1359 |
| 17Q11 Microdeletion Syndrome |
|
Memory impairment, Short attention span, Reduced social reciprocity |
ORPHA:97685 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Reduced social reciprocity |
OMIM:607872 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
| Mowat-Wilson Syndrome |
|
Reduced social reciprocity |
ORPHA:2152 |
