| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... |
OMIM:619773 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness |
OMIM:166700 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Chronic lymphocytic meningi... |
OMIM:209920 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column |
OMIM:602475 |
| Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarr... |
OMIM:269840 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis... |
OMIM:601457 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... |
OMIM:617638 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema |
OMIM:176090 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... |
OMIM:605258 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... |
ORPHA:169160 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... |
OMIM:615767 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chronic mucocutane... |
OMIM:608971 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,... |
OMIM:607594 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di... |
OMIM:619281 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... |
OMIM:614172 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613789 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Aspergillosis |
|
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... |
ORPHA:369 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... |
OMIM:615615 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... |
OMIM:618394 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
| Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ... |
OMIM:240500 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc... |
ORPHA:180229 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Vom... |
ORPHA:90791 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... |
OMIM:209950 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Short foot, Recurrent otitis media, Periodontitis, Reduction of neutroph... |
OMIM:266265 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Decreased specific pneumococcal antibody level, Glomerulonephri... |
OMIM:613496 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
| Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased circulating IgE level, Recur... |
ORPHA:277 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
| Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Chronic dia... |
OMIM:614379 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... |
OMIM:618108 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Decreased circulating C1q concentration, Recurrent bacterial meningitis |
OMIM:620322 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrena... |
ORPHA:96181 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... |
OMIM:614069 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Chron... |
OMIM:619824 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Vomitin... |
ORPHA:454836 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Malabsorption, Splenomegaly, Recurrent pharyngitis, Arthriti... |
ORPHA:42642 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Villous atrophy, Recurrent respiratory infections, Eczema, Chronic diarrhea, Oligoar... |
OMIM:619510 |
| Immunodeficiency 15B |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurren... |
OMIM:615592 |
| Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... |
OMIM:201475 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
| Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
| Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased ... |
ORPHA:562 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:66628 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... |
ORPHA:79319 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Recurrent upper respiratory ... |
OMIM:616005 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections, Anemia, Leuko... |
OMIM:615285 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... |
OMIM:617765 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote... |
OMIM:235200 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Increased circulating IgM level... |
ORPHA:448237 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... |
OMIM:265900 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... |
OMIM:606069 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepatosplenomegaly... |
OMIM:619858 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
| Congenital Macroglossia |
|
Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
| Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Bullous Impetigo |
|
Glomerulopathy, Recurrent bacterial skin infections, Pustule, Sepsis, Septic arthritis |
ORPHA:36237 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Genu varum, Epiphyseal stippling, Coronal cleft vertebrae, Abnormal bon... |
ORPHA:1952 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Mening... |
ORPHA:464370 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Recurrent pneumonia, Sepsis, R... |
OMIM:617475 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Complement Component 8 Deficiency, Type I |
|
Meningitis, Decreased circulating complement C8 concentration |
OMIM:613790 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... |
OMIM:601859 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... |
OMIM:619048 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Anemia, Arthritis, Recurrent... |
OMIM:620321 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Splenomegaly, Incre... |
OMIM:602450 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Abnormal pleura morphology, Myocardi... |
ORPHA:549 |
| Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Dec... |
ORPHA:353298 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
| Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough, Infectious enc... |
ORPHA:99825 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Leukocyt... |
OMIM:249100 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... |
ORPHA:391487 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn... |
ORPHA:47 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Rec... |
ORPHA:101330 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Dysphagia, Hyp... |
OMIM:222300 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... |
ORPHA:70578 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... |
OMIM:619752 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... |
ORPHA:292 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... |
OMIM:618523 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ... |
OMIM:304790 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... |
ORPHA:35078 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Absc... |
ORPHA:400 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carci... |
ORPHA:100093 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I... |
OMIM:256500 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Menorrhagia, Constipation |
ORPHA:168816 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... |
OMIM:619705 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Dia... |
ORPHA:32960 |
| Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Abdominal pain, Splenomegaly, Diarrhea, Abnorm... |
ORPHA:99745 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent pneumonia, Decreased proportion of CD4-positive helper... |
OMIM:615518 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Membranoproliferative glomerulonephr... |
OMIM:608709 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Metaphyseal widening, Sepsis, Leukopenia, Neutropenia, Nephritis, Recurrent... |
OMIM:617303 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Scoliosis |
OMIM:615066 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met... |
OMIM:619638 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased c... |
OMIM:603909 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepatic failure |
OMIM:602579 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
| Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Renal insufficiency, Thrombocytopenia, Sepsis, Renal tubular dysfunction, N... |
ORPHA:289916 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... |
OMIM:147060 |
| Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Sepsis, Thyroiditis, Nephrotic sy... |
ORPHA:39041 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Abnormal s... |
ORPHA:2298 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... |
OMIM:601495 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
| Q Fever |
|
Respiratory distress, Anorexia, Cholecystitis, Cough, Infectious encephalitis, Meningitis, Maculo... |
ORPHA:781 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... |
OMIM:618935 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Diar... |
ORPHA:486 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Nephronophthisis 16 |
|
Enlarged kidney, Periportal fibrosis, Patent ductus arteriosus, Cholestasis |
OMIM:615382 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Decreas... |
OMIM:615559 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom... |
OMIM:607624 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, ... |
ORPHA:139402 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... |
OMIM:242700 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... |
OMIM:102700 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Complement Factor H Deficiency |
|
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in... |
OMIM:609814 |
| Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
| Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Dysp... |
ORPHA:83317 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin... |
OMIM:618261 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Chronic diarrhea... |
OMIM:615207 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... |
ORPHA:31204 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifica... |
OMIM:215045 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
| Müllerian Aplasia And Hyperandrogenism |
|
Acne, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal ... |
ORPHA:247768 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis |
OMIM:616629 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric ste... |
OMIM:615577 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Epistaxis, Diff... |
OMIM:614034 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
| Galactose Mutarotase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis |
ORPHA:26792 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
| Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis |
ORPHA:848 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Coxa valga, Flat acetabular r... |
ORPHA:163649 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Clubbing, Bronchiectasis, Cheil... |
OMIM:615468 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Brucellosis |
|
Liver abscess, Anorexia, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukop... |
ORPHA:1304 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Increased circulating IgA lev... |
OMIM:615934 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... |
OMIM:194380 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... |
OMIM:612444 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Col... |
ORPHA:37042 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Sepsis, Recurrent infections, Nephrotic syndrome,... |
ORPHA:79327 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgG level, In... |
ORPHA:83313 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding di... |
OMIM:617241 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Chronic diarrhea,... |
OMIM:616433 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... |
ORPHA:3261 |
| Angiostrongyliasis |
|
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... |
ORPHA:74 |
| Idiopathic Achalasia |
|
Bronchitis, Cough, Wheezing, Malnutrition, Gastroesophageal reflux, Dysphagia, Recurrent aspirati... |
ORPHA:930 |
| American Trypanosomiasis |
|
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditi... |
ORPHA:3386 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent skin... |
OMIM:620210 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... |
OMIM:301078 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
| Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... |
OMIM:619126 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... |
ORPHA:169090 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia |
OMIM:230350 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory tract infections, ... |
OMIM:615758 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... |
OMIM:150550 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Impaired T... |
OMIM:613179 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... |
ORPHA:1486 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma |
OMIM:270300 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j... |
ORPHA:199296 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... |
OMIM:613011 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
| Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
| Necrotizing Enterocolitis |
|
Diarrhea, Peritonitis, Leukocytosis, Bloody diarrhea, Vomiting, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... |
OMIM:261680 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepatosplenomegaly,... |
OMIM:606003 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections |
OMIM:618985 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
| Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... |
OMIM:618131 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
| X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology |
ORPHA:2571 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... |
OMIM:613860 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Microlissencephaly |
|
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... |
ORPHA:1083 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
| 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 |
| Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R... |
OMIM:306400 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Bloody dia... |
ORPHA:810 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia |
ORPHA:172 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Me... |
OMIM:603553 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis |
OMIM:238970 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Lassa Fever |
|
Dyspnea, Oliguria, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis, Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate sho... |
OMIM:619217 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Abnormalit... |
ORPHA:449432 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... |
ORPHA:449400 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... |
ORPHA:342 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Vomiting, Dysphagia, Podagra, Testicular atrophy |
OMIM:300322 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia... |
OMIM:615387 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Recu... |
OMIM:616069 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... |
OMIM:178500 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Rift Valley Fever |
|
Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Severe viral infection, Hepatitis, Uveitis, M... |
ORPHA:319251 |
| Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
| Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Abdominal pain, Malabsorption, Myo... |
ORPHA:3452 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp... |
OMIM:216360 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Reduced natural killer cell activity, Feeding difficult... |
OMIM:616050 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Liver abscess... |
ORPHA:31202 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Hip dislocation, Sepsis |
OMIM:619059 |
| 49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... |
OMIM:610984 |
| Lyme Disease |
|
Nausea and vomiting, Meningitis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:91546 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... |
OMIM:231680 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormali... |
OMIM:123000 |
| Grant Syndrome |
|
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2097 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... |
ORPHA:171 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... |
OMIM:611926 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Abnormal ... |
OMIM:224300 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Fee... |
ORPHA:141152 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis,... |
OMIM:616622 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
| Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Diarrhea, Cheilitis, Decreased circulating anti... |
ORPHA:90045 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Alg12-Cdg |
|
Proximal placement of thumb, Sepsis, Clinodactyly of the 5th finger, Micropenis, Pachygyria, Hypo... |
ORPHA:79324 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
| Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
| Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid concentration |
ORPHA:381 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
| Meningococcal Meningitis |
|
Neonatal respiratory distress, Projectile vomiting, Skin rash, Anorexia, Sepsis, Infectious encep... |
ORPHA:33475 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma |
ORPHA:210548 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Malabsorption, Diarrhea, Bronchiectasis, Increased circulating IgM level, T... |
OMIM:242860 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen... |
ORPHA:48818 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Arthritis, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia,... |
OMIM:604250 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Diarrhea, Leukocytosis, Atopic dermatitis, Steatorrhea, Hematoch... |
ORPHA:2070 |
| Proteus Syndrome |
|
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperostosis, Facial hy... |
OMIM:176920 |
| Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Thrombocyt... |
OMIM:617053 |
| Cln3 Disease |
|
Vacuolated lymphocytes, Acne, Increased circulating androgen concentration, Dysphagia |
ORPHA:228346 |
| Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
| Reynolds Syndrome |
|
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Respiratory insufficiency, Arthritis, ... |
ORPHA:779 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
| Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheo... |
ORPHA:1332 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thromboc... |
OMIM:603554 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... |
OMIM:615381 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
| Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Peritonitis, Vomiting, Cirrhosis, Prostatitis |
ORPHA:1546 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Recurrent bacterial infections, Aminoaciduria, Neutropenia, C... |
OMIM:603585 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombo... |
ORPHA:293978 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Splenomeg... |
ORPHA:131 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... |
OMIM:208085 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Gastrointestinal hemorrhage, Sinusitis, Pericardit... |
ORPHA:727 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Bronchitis, T lymphocytopenia, ... |
OMIM:619381 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
| Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Pulmonary edema, Anorexia, Abdominal pain, Meningitis, Diarrh... |
ORPHA:79139 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, ... |
ORPHA:1798 |
| Roifman Syndrome |
|
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media |
OMIM:616651 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Type II... |
ORPHA:100 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hepatic steatosis |
OMIM:615996 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Meningitis, Anemia, Leukopenia, Hemophagocytosis, Infectious encephalitis, Thromboc... |
OMIM:267700 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gastroparesis, Primary amenorrhe... |
OMIM:157640 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... |
OMIM:618116 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... |
ORPHA:199299 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
| Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Hypogonadism, Decreased serum tes... |
OMIM:201100 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Sepsis, Hip dysplasia, Finger joint hypermobility, Metacarp... |
ORPHA:544503 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... |
ORPHA:1572 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis, Severe infection |
ORPHA:206594 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis |
ORPHA:2902 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, M... |
ORPHA:379 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Sepsis, Erythroderma, Chronic otitis media |
ORPHA:313 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... |
OMIM:215600 |
| Immunodeficiency 77 |
|
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... |
OMIM:619223 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Sepsis, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Hepato... |
ORPHA:505248 |
| Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Pycnodysostosis |
|
Increased bone mineral density, Brachydactyly, Aplastic clavicle, Spondylolysis, Osteolytic defec... |
OMIM:265800 |
| Bloom Syndrome |
|
Recurrent herpes, Poor appetite, Bronchitis, Severe varicella zoster infection, Uveitis, Gastroes... |
ORPHA:125 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:300536 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... |
OMIM:611884 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of... |
ORPHA:90362 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, High iliac wing, Osteopetrosis, Scoliosis, Large i... |
ORPHA:2780 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Thrombocytopenia, Diarrhea, Peritonitis, Leukocytosis, Schistocytosis, Bloody di... |
ORPHA:90038 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Primary Peritoneal Carcinoma |
|
Peritonitis, Constipation |
ORPHA:168829 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
| Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Recurrent aphthous... |
OMIM:260570 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
| 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 |
|
Recurrent respiratory infections, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Gastroe... |
ORPHA:354 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Avascular necrosis of the capital femoral e... |
ORPHA:247691 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Orchitis, Keratitis, Retr... |
ORPHA:449563 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... |
ORPHA:2484 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas |
OMIM:134610 |
| X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections |
ORPHA:477814 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption |
OMIM:152800 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts |
OMIM:617425 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... |
ORPHA:528 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
| Hirschsprung Disease |
|
Sepsis, Adducted thumb |
ORPHA:388 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
| Bardet-Biedl Syndrome |
|
Hepatic fibrosis |
ORPHA:110 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Infectious encephalitis |
ORPHA:1194 |
| Dominant Beta-Thalassemia |
|
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom... |
ORPHA:231226 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Lymphoma, Panniculitis, Cirr... |
ORPHA:79086 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Steatorrhea |
ORPHA:440713 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
| Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... |
OMIM:612649 |
| Donohue Syndrome |
|
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
| Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
| Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Sepsis, Recur... |
ORPHA:764 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Leukopeni... |
ORPHA:507 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus |
ORPHA:168811 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Hartnup Disease |
|
Skin rash, Infectious encephalitis, Malabsorption |
ORPHA:2116 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Epididymitis, Knee osteoarthritis, Vaginal hydrocele... |
ORPHA:2035 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Urachal cyst, Macrocytic anemia, Neutrophil... |
OMIM:608203 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea... |
OMIM:260920 |
| Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Sepsis, Arthritis, Palmoplantar p... |
ORPHA:247353 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Abnormality of the liver, Jaundice, Increased circulating androgen... |
ORPHA:79320 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Meningitis, Paralytic ileus, Respir... |
ORPHA:2912 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
| Desmoid Tumor |
|
Sepsis, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, ... |
OMIM:613490 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... |
ORPHA:2314 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... |
ORPHA:14 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... |
OMIM:307800 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Sepsis, Renal cyst, Gastrointestinal inflammation, Apla... |
ORPHA:79404 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r... |
OMIM:619446 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop... |
OMIM:616744 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Recurrent infections, Arthritis, ... |
OMIM:617591 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... |
ORPHA:847 |
| Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... |
OMIM:613807 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Pachygyria, Polymicrogyria, Aspiration pneumonia |
OMIM:609528 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Steatorrhea, Hypoalbuminemia, Hepatic ... |
OMIM:212065 |
| Behçet Disease |
|
Myositis, Anorexia, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, Abdominal pain... |
ORPHA:117 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen... |
ORPHA:444490 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Wide anterior fontanel, Sepsis |
OMIM:614886 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:158330 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Dyspnea, Meningitis, S... |
ORPHA:36412 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ... |
ORPHA:52430 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Prolidase Deficiency |
|
Chronic lung disease, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting eryth... |
OMIM:170100 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor... |
ORPHA:36426 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Hashimoto thyroiditis, Reduced cir... |
ORPHA:95512 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial... |
ORPHA:449395 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
| Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly... |
ORPHA:231214 |
| Cog4-Cdg |
|
Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infe... |
ORPHA:263501 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... |
OMIM:222470 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Brachydactyly, Rhizomelia, Hyperlordosis, Hypoplast... |
ORPHA:763 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Increased circulating free fatty acid level |
ORPHA:293964 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Minimal change glomerulonephritis |
ORPHA:656 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... |
OMIM:616263 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:610198 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Sev... |
ORPHA:505395 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-... |
OMIM:608233 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Tick-Borne Encephalitis |
|
Anorexia, Thrombocytopenia, Leukocytosis, Meningitis, Unusual CNS infection, Increased circulatin... |
ORPHA:297 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Chronic otitis media, Abnormal sperm motility, Neonatal respiratory distress, Respirato... |
ORPHA:244 |
| Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5... |
OMIM:619468 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Diarrhea, Chronic diarr... |
OMIM:617099 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
| Urachal Cyst |
|
Leukocytosis, Peritonitis, Abscess |
ORPHA:488 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl... |
ORPHA:537 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, 3-Methylglutaconic aciduria, Recurrent infections |
OMIM:614739 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Nasogastric tube feeding in infancy, Dyspnea,... |
ORPHA:90117 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac... |
ORPHA:77259 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... |
OMIM:208500 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
| Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Splenomegaly, Patent ductus arteriosus, Abnormality of the liver, Coliti... |
ORPHA:84064 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis |
OMIM:613385 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... |
ORPHA:2959 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Nephritis, P... |
ORPHA:449427 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... |
OMIM:618476 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Minimal change glomerulonephritis |
ORPHA:567548 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
| Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Sepsis |
ORPHA:79239 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction, Skin rash, Eosinoph... |
ORPHA:183 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... |
ORPHA:2032 |
| Acquired Purpura Fulminans |
|
Skin rash, Sepsis, Thrombocytopenia |
ORPHA:49566 |
| Riddle Syndrome |
|
Pneumonia, Bronchitis, Abdominal pain, Recurrent viral infections, Neonatal asphyxia, Diarrhea, R... |
ORPHA:420741 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocytopenia, Bronchiecta... |
OMIM:620184 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Meier-Gorlin Syndrome 7 |
|
Hypospadias, Cryptorchidism, Breast aplasia, Micropenis, Clitoral hypertrophy, Meconium peritonitis |
OMIM:617063 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Immunoglobulin A Vasculitis |
|
Nausea and vomiting, Episcleritis, Gastrointestinal hemorrhage, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Hydrocele tes... |
OMIM:605309 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... |
OMIM:618278 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Disseminated viral infection... |
ORPHA:83597 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... |
OMIM:617092 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Pseudobulbar paralysis, Premature ovarian insufficiency |
ORPHA:101006 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Re... |
OMIM:619644 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Asthma, Increased circulating... |
ORPHA:634 |
| Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respirator... |
ORPHA:68 |
| Loeffler Endocarditis |
|
Pericarditis, Eosinophilia |
ORPHA:75566 |
| Calciphylaxis |
|
Sepsis, Stage 5 chronic kidney disease |
ORPHA:280062 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Thrombocytopenia, Splenomegaly, Opportunistic bacteri... |
ORPHA:158048 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash, Hepatomegaly |
OMIM:601979 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis |
OMIM:613989 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... |
OMIM:604571 |
| Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... |
OMIM:616037 |
| Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recurrent vulvov... |
OMIM:614162 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... |
OMIM:613848 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia |
OMIM:210200 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hyperalaninemia, Macrovesicular hepatic steatosis, Cirrhosis |
ORPHA:298 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Estrogen Resistance Syndrome |
|
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... |
ORPHA:785 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Joint hypermobility |
OMIM:620065 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hepatitis |
ORPHA:584 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul... |
ORPHA:329918 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Cholelithiasis, Decreas... |
ORPHA:273 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Abdominal pai... |
ORPHA:2357 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... |
OMIM:619445 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis |
ORPHA:589 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... |
OMIM:617253 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver... |
OMIM:618329 |
| Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia |
OMIM:236200 |
| Cleft Velum |
|
Oral-pharyngeal dysphagia, Nasal regurgitation, Aspiration pneumonia, Recurrent otitis media, Poo... |
ORPHA:99772 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
| Hsd10 Disease |
|
Short attention span, Abnormal social behavior |
ORPHA:391417 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic diarrhea, Hepatosplenomegaly,... |
ORPHA:3260 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Chronic diarrhea, ... |
OMIM:208900 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Ascites, Cirrhosis, Portal hypertension |
ORPHA:974 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin... |
ORPHA:90652 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Sacral dimple, Bowing of the long bones, Recurrent fra... |
ORPHA:3206 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Brachydactyly, Hypoplastic scapulae, Aplastic clavicle, Short mid... |
OMIM:119600 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... |
OMIM:230600 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Increased susceptibility to fract... |
OMIM:166200 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... |
ORPHA:1652 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Fe... |
OMIM:620076 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... |
OMIM:275350 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Sepsis, Recurrent infections, Decreased circulating antibody level, An... |
ORPHA:79396 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis, Malar ras... |
OMIM:301080 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Sepsis |
ORPHA:247257 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... |
ORPHA:786 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... |
ORPHA:90790 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase... |
ORPHA:2769 |
| Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
| Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia, Neurom... |
ORPHA:171442 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Peritonitis, Arteritis |
ORPHA:679 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... |
ORPHA:227990 |
| Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... |
ORPHA:542323 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphyses, Short ne... |
ORPHA:94089 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C... |
ORPHA:411703 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Abdominal colic, Intestinal lymphedema, Intestinal obstruction,... |
ORPHA:90363 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Nasogastric tube feeding |
OMIM:619057 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal... |
ORPHA:464 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosis, Sepsis, Aspiration pneumonia... |
ORPHA:94093 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Feeding difficulties in infanc... |
ORPHA:1493 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C... |
OMIM:124000 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... |
ORPHA:29073 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Increased circu... |
OMIM:615846 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
| Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decrea... |
OMIM:620040 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Pneumonia, Cryptorchidism, Long penis, Increased serum testosterone level, Hypoplasi... |
OMIM:264090 |
| Alexander Disease |
|
Nausea and vomiting, Bowel incontinence, Respiratory insufficiency, Constipation, Dysphagia, Infe... |
ORPHA:58 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroidism |
OMIM:617575 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Atopic dermatitis, Decreased response to growth hormone stimulatio... |
OMIM:618624 |
| Junctional Epidermolysis Bullosa Inversa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... |
ORPHA:227982 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopenia, Patent ductus arteriosus... |
OMIM:274000 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Recurrent bacterial infections, Slender long bone, Short palm, Anemia |
OMIM:244460 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Uveitis, Br... |
OMIM:308300 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, M... |
OMIM:620005 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin ra... |
ORPHA:1855 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck, Short metat... |
ORPHA:79444 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplasia/hypoplasia involving b... |
ORPHA:221016 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Scoliosis |
ORPHA:94063 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71526 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Elevated... |
OMIM:242900 |
| Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Recurrent skin infections, Hypogonadotropic hypogonadism, Hypospadias, Decreased... |
ORPHA:3455 |
| Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hyperl... |
ORPHA:79259 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Sepsis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
| Secondary Short Bowel Syndrome |
|
Sepsis, Enterocolitis |
ORPHA:95427 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Diarrhea, Crusting erythematous ... |
ORPHA:324625 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, ... |
ORPHA:95455 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Myoc... |
ORPHA:809 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Osteoporosis, Slende... |
ORPHA:902 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler... |
ORPHA:2905 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... |
ORPHA:289390 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, Incr... |
ORPHA:800 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac... |
ORPHA:99646 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function |
ORPHA:436271 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Hepatic steatosis |
ORPHA:254346 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Abdominal distention, Leukocytosis, Chronic diarrhea, Atelectasis, Bronchiectasis, Dysp... |
OMIM:620233 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor... |
ORPHA:99827 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Metaphyseal sclerosis, Patella... |
ORPHA:221008 |
| Sarcoidosis |
|
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidism, Hepato... |
ORPHA:797 |
| Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy, Hepatic fibrosis, Biliary tract abnormality |
OMIM:209900 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Peritonitis, Pyelonephritis |
OMIM:619351 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... |
ORPHA:2590 |
| Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Decreased osteoclast cou... |
OMIM:259720 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepat... |
ORPHA:746 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Metaphyseal dysplasia, Pneumonia, Short iliac bones, Metaphysea... |
OMIM:607944 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... |
OMIM:618063 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... |
ORPHA:101096 |
| Follicular Lymphoma |
|
Splenomegaly, Pleural effusion, Meningitis |
ORPHA:545 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Eleva... |
ORPHA:263455 |
| Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Perianal abscess, S... |
OMIM:176450 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue |
OMIM:263520 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Leukemia, Malar rash,... |
OMIM:210900 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck, Broad 1st m... |
ORPHA:79443 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Paradoxical incre... |
ORPHA:96253 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
| Roifman-Chitayat Syndrome |
|
Short metacarpal, Pneumonia, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... |
OMIM:301220 |
| Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Decreased circulating ... |
OMIM:242840 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis, Short palm |
OMIM:241410 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
| Desmosterolosis |
|
Metatarsus adductus, Increased bone mineral density, Osteopetrosis, Micromelia |
ORPHA:35107 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Celiac disease, Gastrointestinal dysmotility, Asthma, R... |
ORPHA:293987 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Dysphagia, Feeding difficulties, Respiratory insufficiency, Aspiration pne... |
OMIM:618253 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint laxity, Gait disturbance, Increased body weight |
ORPHA:589905 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... |
ORPHA:66634 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... |
OMIM:613960 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Short neck, Subperiosteal b... |
OMIM:259775 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis, Increased body weight, Dorsocervical fat pad |
OMIM:615830 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarth... |
ORPHA:85436 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus, Periportal fibrosis, A... |
OMIM:269860 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
| Cinca Syndrome |
|
Nausea and vomiting, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Spleno... |
ORPHA:1451 |
| Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... |
OMIM:603903 |
| Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, R... |
ORPHA:470 |
| Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts |
OMIM:311200 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... |
ORPHA:436252 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
| Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
| Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Femoral bowing, Decreased circulating antibody level, Recur... |
OMIM:248500 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Sepsis, Bladder diverticulum, Abnorma... |
ORPHA:565 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger synd... |
OMIM:603467 |
| Lead Poisoning |
|
Skin rash, Anorexia, Abdominal pain, Abdominal distention, Asthma, Increased circulating IgE leve... |
ORPHA:330015 |
| Sanjad-Sakati Syndrome |
|
Short foot, Small hand, Spinal canal stenosis, Patchy osteosclerosis |
ORPHA:2323 |
| Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... |
ORPHA:662 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Thrombocytopenia, Diarrhea, L... |
OMIM:610377 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Dyspnea, B... |
OMIM:181000 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Abnormal lung morphology, A... |
ORPHA:54251 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Elevated gamma-glutamyltransfer... |
OMIM:619534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Long fi... |
OMIM:309583 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Cutaneous syndactyly, Recurrent infections, Pulmonary arterial hypertension |
OMIM:601005 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Sepsis |
ORPHA:2241 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough |
OMIM:615434 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Sandal gap, Phimosis, Sepsis, 2-3 toe syndactyly, Recurrent infections, Joi... |
ORPHA:363611 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T... |
OMIM:612731 |
| Desmosterolosis |
|
Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogryposis multiplex c... |
OMIM:602398 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypomagnesemia, Splenomegaly, M... |
ORPHA:699 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly |
OMIM:300484 |
| Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Epistaxis, Dyspnea, Hypoxemia, Iron deficiency anemia, Gastrointest... |
ORPHA:2038 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Hepatic steatosis |
OMIM:616271 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Splenomegaly, Neutropenia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis... |
OMIM:232220 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Neonatal sepsis |
ORPHA:529808 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Recurrent upper respiratory tract infections, Feeding ... |
OMIM:607143 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Neonatal sepsis |
ORPHA:529799 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
| Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... |
ORPHA:340 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Chronic lymphocytic menin... |
ORPHA:99843 |
| Radiation Proctitis |
|
Sepsis, Rectal abscess, Arteritis |
ORPHA:70475 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Gastroparesis, ... |
ORPHA:79329 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... |
ORPHA:1018 |
| Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, U... |
OMIM:613658 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Osteoporosis, Obesity |
OMIM:612463 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidney |
OMIM:608022 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Thyroiditis, Sclerosing cholangitis, Dysphagia, Hashimoto thyro... |
ORPHA:64744 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Restrictive ventilat... |
ORPHA:98897 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
| Narcolepsy 7 |
|
Narcolepsy, Obesity |
OMIM:614250 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Osteoporosis, Increased body weight |
OMIM:615954 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Premature ovarian insufficiency |
ORPHA:391307 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Gaucher Disease, Type Ii |
|
Apnea, Cough, Thrombocytopenia, Splenomegaly, Feeding difficulties, Stridor, Gastroesophageal ref... |
OMIM:230900 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Bacterial endocard... |
ORPHA:2072 |
| Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... |
OMIM:605822 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Decreased circulating IgA level, D... |
ORPHA:79330 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Meningitis, Abdominal pain,... |
ORPHA:900 |
| Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Meningitis, Spleno... |
ORPHA:707 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ... |
ORPHA:17 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
| Encephalitis Lethargica |
|
Recurrent viral infections, Increased circulating antibody level, Bowel incontinence, Hyperventil... |
ORPHA:83600 |
| Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
| Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Nonproductive cough, Dyspnea, Asthma, Wheezing... |
ORPHA:97287 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Sepsis |
ORPHA:158668 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... |
ORPHA:79078 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia, Dysphagia |
ORPHA:52368 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Feeding difficulties, Recurrent infections, Gastroesophageal reflu... |
ORPHA:79243 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Asthma, Chronic diarrhea, Recurrent infections, Keratoconj... |
OMIM:601675 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections |
OMIM:300953 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Epiphyseal stippling, Small for gestational age, Increased body weight |
OMIM:274300 |
| Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... |
ORPHA:586 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... |
ORPHA:99226 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... |
ORPHA:881 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Decreased cir... |
OMIM:615688 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Neoplasm of the... |
ORPHA:90003 |
| Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... |
ORPHA:91500 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Impaired T cell function, Minimal change glomerulonephritis, T... |
ORPHA:1830 |
| Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Hepatic cysts, Enlarged kidney |
ORPHA:79328 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... |
ORPHA:454831 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Increased VLDL chole... |
OMIM:243800 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo... |
ORPHA:666 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Howell-Jol... |
ORPHA:85443 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthelasma, Inflammation o... |
OMIM:232240 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding |
ORPHA:79264 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Feeding diff... |
ORPHA:98905 |
| Perrault Syndrome 4 |
|
Disproportionate tall stature, Osteoporosis, Obesity, Gait ataxia |
OMIM:615300 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Abnormal lung morphology, Paraprotein... |
ORPHA:167635 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis |
ORPHA:567544 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Anemia, Malar rash, Serositis, Thrombocytopenia |
ORPHA:231111 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus, Hepatic steatosis |
OMIM:619934 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Cystic Fibrosis |
|
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... |
OMIM:219700 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Cryptorchidism, Micropenis, Lymphopenia, Hypothyroidism, Anemia |
OMIM:616541 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Pneumonia, Splenomegaly, Metaphyseal widening, Recurrent upper respiratory ... |
OMIM:253200 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... |
ORPHA:70 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract... |
OMIM:608328 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Occipital Horn Syndrome |
|
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses |
ORPHA:198 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... |
ORPHA:2495 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Renal insufficiency, Abnormal acetabulum morphology, Hypospadia... |
ORPHA:397715 |
| Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections,... |
OMIM:223370 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnor... |
ORPHA:99826 |
| 48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
| Noonan Syndrome 14 |
|
Cryptorchidism, Lymphopenia, Hyperhidrosis |
OMIM:619745 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent ductus arteriosus, ... |
OMIM:300868 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections |
ORPHA:182 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... |
ORPHA:314655 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Proximal placement of thumb, Abnormal renal ... |
OMIM:122470 |
| Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
ORPHA:86816 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Short finger, Tapered finger |
ORPHA:1867 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Clinodactyly of the 5th finger, Ma... |
ORPHA:2135 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... |
OMIM:269150 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Diarrhea, Arthritis, Leukopenia, Vomiting, ... |
ORPHA:93552 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Keratoconjunctivi... |
ORPHA:495875 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Brachydactyly, Camptodactyly of finger, Short palm |
ORPHA:2176 |
| Mosaic Trisomy 9 |
|
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation |
ORPHA:99776 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Flared iliac wing, Urinary glycosaminoglycan excretion, Short long bone, Aspi... |
ORPHA:79255 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislocation, Patellar h... |
ORPHA:3132 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal... |
ORPHA:73230 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macro... |
OMIM:619127 |
| Viss Syndrome |
|
Chronic gastritis, Eczema, Patent ductus arteriosus, Increased circulating IgE level, Chronic dia... |
OMIM:619472 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Limitation of joint mobility... |
ORPHA:79474 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Hepatic steatosis |
OMIM:619321 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Aspartylglucosaminuria |
|
Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior beaking of lumbar ve... |
ORPHA:93 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... |
ORPHA:319213 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... |
ORPHA:330021 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Anorexia, Abdominal pain, Abnormal pleura morphology, Recurrent pharyngi... |
ORPHA:397 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... |
OMIM:619482 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Neutrophilia, A... |
ORPHA:99829 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Oligosacchariduria, Recurrent infect... |
ORPHA:309282 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Eczema, Facial capillary hemangioma, Splenomegaly, Patent ductus arteriosus, Choles... |
OMIM:270400 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis, Nausea |
ORPHA:863 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Hydroureter, Abnormal pelvis bone morphology, Abn... |
ORPHA:2273 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia |
OMIM:617827 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Dyspnea, Short foot, Respiratory failure, Brachydactyly |
OMIM:617809 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
| Robinow Syndrome |
|
Decreased serum testosterone concentration, Small scrotum, External genital hypoplasia, Cryptorch... |
ORPHA:97360 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
| Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Syndactyly, Hypospadias, Congenit... |
OMIM:619488 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:258865 |
| Propionic Acidemia |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:606054 |
| Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachyp... |
ORPHA:26793 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... |
ORPHA:99921 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Thrombocyto... |
ORPHA:50918 |
| Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Abnormal lung morphology, Paraproteinemia, Chronic pul... |
ORPHA:439232 |
| Chops Syndrome |
|
Tracheomalacia, Splenomegaly, Anomalous pulmonary venous return, Horseshoe kidney, Aspiration pne... |
OMIM:616368 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Marshall-Smith Syndrome |
|
Hallux valgus, Apnea, Bullet-shaped middle phalanges of the hand, Slender finger, Recurrent upper... |
OMIM:602535 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity, Lethargy... |
ORPHA:398069 |
| Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Constipation, Aspiration pneumonia |
ORPHA:35069 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Osteomyelitis, Abnormal abdomen morphology, Jaundice, Neurofibroma... |
OMIM:619475 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia |
OMIM:619708 |
| Lissencephaly Due To Lis1 Mutation |
|
Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria, Posterior predomi... |
ORPHA:95232 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Heparan sulfate excretion in urine, Respiratory tract infecti... |
ORPHA:581 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Abdominal cramps, Vomiting, Aspiration pneumon... |
ORPHA:173 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Patent ductus arteriosus, Abnormality of the liver, Neuroblastoma, Ann... |
ORPHA:1606 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Ataxia, Failure to thr... |
ORPHA:904 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
| Fg Syndrome Type 1 |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:93932 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Chronic constipation, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
| Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypocal... |
OMIM:188400 |
| Ogden Syndrome |
|
Eczema, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Patent ductus arteriosus, Macro... |
OMIM:300855 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Eosinophilia |
ORPHA:75565 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Reduced thyroxin-binding globulin, Abnormal liver pa... |
ORPHA:79318 |
| Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pelvic kidney, Lissencephaly, Polydactyly, Camptodactyly, Clinodactyly o... |
OMIM:247200 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis |
ORPHA:2785 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Bro... |
ORPHA:353281 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Poor appetite, Hypercapnia, Respiratory insufficiency due to mu... |
ORPHA:2020 |
| Coffin-Siris Syndrome |
|
Hypospadias, Recurrent upper respiratory tract infections, Simplified gyral pattern, Horseshoe ki... |
ORPHA:1465 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Feeding difficulties, Decreased circulating antibody level, Constipation, Decreased circulating I... |
OMIM:617062 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Otitis media, Vesicoureteral reflux, Aspiration, Syndactyly, Hypospadias, Abnormality of the kidn... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Otitis media, Vesicoureteral reflux, Aspiration, Syndactyly, Hypospadias, Abnormality of the kidn... |
ORPHA:353277 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia, Malar ra... |
ORPHA:536 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Sotos Syndrome |
|
Joint laxity, Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Chronic constipation, Aspiration pneumonia, Feeding difficulties |
OMIM:616430 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria, Aspiration pneumonia |
OMIM:619167 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Portal hypertension, Fetal ascites, Atopic dermatitis, Cholestasis, Hepatosplenomegaly, Recurrent... |
OMIM:619503 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Brachydactyly, Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, H... |
ORPHA:280633 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Left ventricular hypertrophy, Microvesicular hepatic steatosis, Increased hepatocellular lipid dr... |
OMIM:220111 |
| Acute Transverse Myelitis |
|
Invasive parasitic infection, Gastroparesis, Abscess, Severe viral infection, Paralytic ileus, Di... |
ORPHA:139417 |
| Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Malnutrition, Constipation, Aspiration pneumonia, Dysphagia |
ORPHA:99027 |
| Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Recurrent Staphylococcus aureus infect... |
ORPHA:642 |
| Dermatomyositis |
|
Myocarditis, Pericarditis, Abnormal eosinophil morphology, Arthritis |
ORPHA:221 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Depression, Dementia, Low frustration tolerance, Cognitive ... |
ORPHA:646 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Malnutrition, Gastrointestinal inflammation, Iron ... |
ORPHA:79408 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... |
OMIM:616268 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Dysphagia |
OMIM:606002 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
| Tay-Sachs Disease |
|
Hepatosplenomegaly, Gastrostomy tube feeding in infancy, Aspiration pneumonia, Dysphagia |
ORPHA:845 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Tracheomalacia, Asthma, Small hand, Horseshoe kidney, Fibular hypoplasia, Hypoplasia... |
ORPHA:444077 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Hepatic failure, Thrombocytopenia |
OMIM:301072 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr... |
OMIM:613471 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Aplasia/Hypoplasia of th... |
ORPHA:79500 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmot... |
ORPHA:500150 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Kabuki Syndrome 1 |
|
Prominent fingertip pads, Crossed fused renal ectopia, Congenital hip dislocation, Hemolytic anem... |
OMIM:147920 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Nausea and vomiting, Meningitis |
ORPHA:91351 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... |
OMIM:214800 |
| Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Dysphagia, Feeding difficulties, Gastroesophageal reflux, Co... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Dysphagia, Feeding difficulties, Gastroesophageal reflux, Co... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Dysphagia, Feeding difficulties, Gastroesophageal reflux, Co... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Dysphagia, Feeding difficulties, Gastroesophageal reflux, Co... |
ORPHA:93924 |
| Tuberous Sclerosis Complex |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:805 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, Absent hallux, Aspiration pneumonia, Micropenis, Pa... |
OMIM:216340 |
| Sacral Defect With Anterior Meningocele |
|
Meningitis, Rectal abscess, Constipation |
OMIM:600145 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Nephrolithiasis, Hip dysplasia, Aspiration pneum... |
ORPHA:438213 |
| Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatoblastoma, Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
| 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 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Carney Complex |
|
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
