| Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
| Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
| Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
| Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| 15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
| Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
| Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
| Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
| Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| 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 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Recurrent infections, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
| Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... |
OMIM:615615 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Recur... |
OMIM:615707 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
| Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Recurrent infections, Hepatosplenomegaly, Decreased circulatin... |
OMIM:618261 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Recurrent infections, Monocytosis, Agammaglobulinemia, Chro... |
OMIM:615592 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
| Immunodeficiency, Common Variable, 7 |
|
Fever, Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chroni... |
OMIM:614699 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
| Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Focal-onset seizure, Seizure |
OMIM:600513 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Decreased circulating osteocalcin level, Gliosis, Central diabetes insipidus |
OMIM:125700 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Inc... |
ORPHA:98813 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... |
OMIM:617827 |
| Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... |
OMIM:618549 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
| Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
| 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 |
| Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
| Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
| Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Hypoproteinemia, Lung abscess,... |
OMIM:241600 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, Persis... |
OMIM:619510 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, P... |
OMIM:601457 |
| Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Fever, Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infect... |
ORPHA:169160 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... |
OMIM:240500 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Decreased proportion of CD3-positive T cells, ... |
ORPHA:331206 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
| Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
| Immunodeficiency 19 |
|
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... |
OMIM:615617 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| C1Q Deficiency 3 |
|
Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
| Babesiosis |
|
Fever, Hepatomegaly, Hemolytic anemia, Nausea and vomiting, Anorexia, Splenomegaly, Jaundice, Leu... |
ORPHA:108 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Splenomegaly, Inc... |
OMIM:616050 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Pancytopenia, Vomiting, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Recurrent upper respiratory tract inf... |
OMIM:619752 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum creatinine... |
OMIM:617744 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 60 And Autoimmunity |
|
Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating tota... |
OMIM:618394 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
| 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 32B |
|
Fever, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomega... |
OMIM:226990 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Eosinophilia, Increased circulating IgE level, R... |
OMIM:618282 |
| Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... |
OMIM:616005 |
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Arthritis, Recurrent pharyngitis |
ORPHA:42642 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
| Wolman Disease |
|
Fever, Hepatomegaly, Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distent... |
ORPHA:75233 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
| Budd-Chiari Syndrome |
|
Fever, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, Gastrointestinal hemor... |
ORPHA:131 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased pr... |
OMIM:619652 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Decreased response to growth hormone... |
OMIM:615577 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure, Dysphagia |
ORPHA:2724 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Recurrent pneumonia, Chronic diar... |
OMIM:615207 |
| 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 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting |
ORPHA:33402 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:114580 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Abnormal thymus mo... |
OMIM:611926 |
| Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function |
OMIM:618952 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Fever, Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombo... |
ORPHA:158057 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties... |
OMIM:613489 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Fever, Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly |
ORPHA:466794 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... |
OMIM:235555 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
| Cholangiocarcinoma |
|
Fever, Anorexia, Abdominal pain, Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia |
OMIM:177000 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Sepsis, Hepatitis, Anemia, ... |
ORPHA:292 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... |
OMIM:616100 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Decreased liver... |
ORPHA:570422 |
| Rasmussen Subacute Encephalitis |
|
Emotional lability, Irritability, Cognitive impairment, Attention deficit hyperactivity disorder,... |
ORPHA:1929 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
| Peroxisome Biogenesis Disorder 7B |
|
Decreased liver function |
OMIM:614873 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Gliosis, Vomiting, H... |
ORPHA:26791 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Eosinophilia, Craniosynostosis, Recurrent fractur... |
OMIM:147060 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Abnormalit... |
ORPHA:540 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hypothermia, Feeding difficulti... |
OMIM:251880 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased circulating ferritin concen... |
OMIM:619313 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Confusion, Feeding d... |
ORPHA:71212 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
| Immunodeficiency 22 |
|
Fever, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased circula... |
OMIM:615758 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy... |
OMIM:231530 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
| Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Conjunctivitis, M... |
ORPHA:448237 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... |
ORPHA:436159 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurren... |
OMIM:613101 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Depression, Decreased circulating IgA level |
DECIPHER:45 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Skin rash, Maculopap... |
ORPHA:398124 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent upper respiratory ... |
ORPHA:277 |
| Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... |
ORPHA:139507 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Congenital contracture, Gliosis, Hypoplasia of the brainstem |
OMIM:225753 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Decreased circulating IgG level, Hypothyroidism, Autoimmune thrombocytopenia, Recurrent p... |
OMIM:614700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased circ... |
OMIM:102700 |
| Macrophage Activation Syndrome |
|
Fever, Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransfe... |
ORPHA:158061 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Anorexia... |
ORPHA:98850 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
| Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Meningitis, Increased circulating I... |
ORPHA:1163 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis... |
OMIM:201475 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ... |
OMIM:618048 |
| Caffey Disease |
|
Fever, Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, I... |
ORPHA:1310 |
| Rosaï-Dorfman Disease |
|
Fever, Osteolysis, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... |
OMIM:609981 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Spl... |
OMIM:300635 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... |
ORPHA:572 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Decr... |
ORPHA:90362 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:615767 |
| Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function |
OMIM:614870 |
| Leigh Syndrome |
|
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Pigmentary retinopathy, Respir... |
OMIM:256000 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, My... |
ORPHA:139402 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... |
OMIM:614878 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Meningitis, Sepsis |
OMIM:618847 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid... |
OMIM:269840 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent herpes, Liver abscess, Sepsis, Pulmonary tuberculosis, Decreased circulating IgG level,... |
ORPHA:183675 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... |
ORPHA:217390 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy |
ORPHA:254857 |
| Immunodeficiency 27A |
|
Fever, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased... |
OMIM:209950 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Reticular Dysgenesis |
|
Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulatin... |
ORPHA:33355 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Feeding diffic... |
ORPHA:263501 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mas... |
ORPHA:98848 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... |
ORPHA:391487 |
| Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
| Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
| Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Progressive psychomotor deterioration, Recurrent infections, Epiphyseal stippling, ... |
ORPHA:251009 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Leukopenia, ... |
OMIM:267700 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea, Hypertr... |
OMIM:620270 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Shigellosis |
|
Anorexia, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomiting, Nausea, Acute coli... |
ORPHA:810 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte pr... |
ORPHA:221139 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Feeding difficulties |
OMIM:609060 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... |
OMIM:613070 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... |
ORPHA:567983 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentrat... |
OMIM:603553 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Increased circulating interleukin 6 concentr... |
OMIM:301074 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short attention span, Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in ... |
ORPHA:171706 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
| Narcolepsy Type 1 |
|
Transient global amnesia, Obesity, Syncope |
ORPHA:2073 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
| Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... |
ORPHA:464370 |
| Carcinoid Syndrome |
|
Lack of bowel sounds, Hepatic necrosis, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Tric... |
ORPHA:100093 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Increased circulating IgE level... |
OMIM:618523 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Obesity, Recurrent otitis media, Cognitiv... |
OMIM:615993 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Joint stiffnes... |
OMIM:620210 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... |
ORPHA:158048 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Recurrent pharyngitis, Myocarditis, Sepsis, Hepatitis, Endocarditis, ... |
ORPHA:549 |
| Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Increased circulating IgE level, Thyroiditis, Recur... |
OMIM:618985 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:2394 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Feeding difficulties |
OMIM:246900 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... |
OMIM:617638 |
| Mu-Heavy Chain Disease |
|
Fever, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antib... |
ORPHA:100024 |
| Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Craniosynostosis |
OMIM:201550 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Necrobiosis Lipoidica |
|
Abnormality of the thyroid gland, Diabetes mellitus, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... |
OMIM:230400 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... |
OMIM:613496 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Hepatic failure |
ORPHA:3196 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased circulating tot... |
OMIM:612301 |
| Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... |
OMIM:608971 |
| Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating ant... |
ORPHA:397596 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
| Typhoid |
|
Skin rash, Splenomegaly, Infectious encephalitis |
ORPHA:99745 |
| Congenital Disorder Of Glycosylation, Type Ir |
|
Chronic constipation, Gastroesophageal reflux, Decreased liver function |
OMIM:614507 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:617049 |
| Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Portal hypertension, Hepatosplenomegaly |
OMIM:232500 |
| Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Obesity, Cognitive impairment |
OMIM:615983 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal... |
OMIM:613327 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced... |
OMIM:242860 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... |
ORPHA:911 |
| Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Diabetes mellitus, Decreased circulating antibody level, Type I... |
ORPHA:100 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Female hypogonadism, Recurrent bronchitis, Elevated circulating a... |
OMIM:208900 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Fever, Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l... |
ORPHA:367 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Hepatic failure |
OMIM:618567 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Progressive neurologic deterioration, Decreased circulating antibody level |
ORPHA:85317 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Vomiting, Acute hepatic failure |
OMIM:616483 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Gliosis, Polymicrogyria |
ORPHA:99802 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Abdominal distention, Jaundice, Hepatitis, ... |
ORPHA:186 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Feeding difficulties in infancy, Obesity, Self... |
OMIM:613670 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Fe... |
ORPHA:3260 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Hand muscle w... |
ORPHA:254886 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism, Flexion contracture, Transient hypogammaglobulinemia of infancy, Recurrent infections |
OMIM:251240 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure |
ORPHA:156 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Osteoporosis, Thyroiditis, Rickets, Depression, Iron deficiency anemia, Hypoca... |
OMIM:212750 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f... |
ORPHA:70472 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pneumonia, Splenomegaly,... |
ORPHA:781 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s... |
ORPHA:330015 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Wolcott-Rallison Syndrome |
|
Fever, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Iron deficie... |
ORPHA:1667 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Bowel ... |
ORPHA:100075 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Low cholesterol esterificat... |
OMIM:257220 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Reduced carnitine O-palmito... |
ORPHA:228305 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Elevated circulating creatine kinase concentration, Upper limb muscle weakn... |
ORPHA:309169 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
| Secondary Intestinal Lymphangiectasia |
|
Fever, Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transfer... |
ORPHA:90363 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Diarrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure |
OMIM:602579 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... |
ORPHA:178464 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Diabetes ... |
ORPHA:125 |
| Angiostrongyliasis |
|
Fever, Stiff neck, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Inc... |
ORPHA:74 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Sepsis, Nephritis, In... |
ORPHA:2552 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... |
ORPHA:266 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Neonatal respiratory distress, Bundle branch block, Hyperacti... |
ORPHA:589821 |
| Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Sepsis, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Limited elbow extens... |
OMIM:613385 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo... |
ORPHA:811 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Hepatic failure |
ORPHA:261519 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Episodic vomiting, Decreased liver function, Poor suck |
OMIM:615160 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Elevated circ... |
OMIM:160500 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
| American Trypanosomiasis |
|
Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
| Alpha-Heavy Chain Disease |
|
Fever, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib... |
ORPHA:541423 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu... |
OMIM:301078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity, Thick eyebrow, Emotional lability |
OMIM:309585 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum... |
ORPHA:420741 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst, Gliosis |
OMIM:221770 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil... |
OMIM:300972 |
| Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... |
ORPHA:90062 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Osteoporosis, Elbow flexion contracture, Recurrent pneumonia, Knee flexion c... |
OMIM:214150 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Severe infection, Increased circulating IgG level... |
ORPHA:206594 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abdominal distention... |
ORPHA:2088 |
| Citrullinemia Type I |
|
Gastroesophageal reflux, Hepatic failure, Vomiting, Feeding difficulties |
ORPHA:247525 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc... |
OMIM:615816 |
| Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding diffic... |
OMIM:618654 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Skin rash, Thrombocytopenia |
ORPHA:49566 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... |
OMIM:127550 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Type II diabetes mellitus, Depression |
OMIM:604121 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Leukope... |
OMIM:242840 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... |
OMIM:620040 |
| Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circulating total Ig... |
OMIM:607143 |
| Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure |
ORPHA:254881 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... |
OMIM:616576 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Fatty replacem... |
ORPHA:52430 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... |
ORPHA:333 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Increase... |
OMIM:615934 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb ... |
OMIM:500002 |
| 48,Xxyy Syndrome |
|
Recurrent respiratory infections, Apnea, Feeding difficulties in infancy, Cryptorchidism, Asthma,... |
ORPHA:10 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, High, narrow palate, Obesity, Feeding difficulties, Attention deficit hyper... |
ORPHA:444002 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616910 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerst... |
ORPHA:37042 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Fever, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic ... |
OMIM:619849 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, S... |
ORPHA:31204 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Igg4-Related Aortitis |
|
Fever, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, I... |
ORPHA:449400 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619573 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... |
OMIM:618116 |
| L-2-Hydroxyglutaric Aciduria |
|
Gliosis |
OMIM:236792 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
ORPHA:399058 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Gliosis, Simplified gyral pattern |
OMIM:615095 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Decreased liver function |
ORPHA:512260 |
| Adenocarcinoma Of The Esophagus |
|
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... |
ORPHA:99976 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
| Tyrosinemia, Type I |
|
Fever, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemor... |
OMIM:276700 |
| Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... |
ORPHA:171445 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Recurrent fractures, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femoral epiphyseal... |
ORPHA:353298 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ... |
ORPHA:84064 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity, Cognitive impairment |
OMIM:619058 |
| Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Fever, Osteomyelitis, Eosinophilia, Craniosynostosi... |
ORPHA:2314 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
| Inflammatory Pseudotumor Of The Liver |
|
Fever, Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Increased h... |
ORPHA:90003 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Poor appetite, Anorexia, Bowel urgency, Protracted diarrhea, Hepatic fai... |
ORPHA:97287 |
| Serotonin Syndrome |
|
Fever, Restlessness, Diarrhea, Agitation, Hepatic failure, Nausea |
ORPHA:43116 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Throm... |
OMIM:606003 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Hepatic cysts |
OMIM:600666 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Prog... |
ORPHA:329478 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
| Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Partial atrioventricular canal defect, Patent... |
OMIM:615996 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow f... |
ORPHA:275761 |
| Polymyositis |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Anorexia, Gastroesopha... |
ORPHA:732 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Decreased liver function |
OMIM:616299 |
| Stevens-Johnson Syndrome |
|
Fever, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestina... |
ORPHA:36426 |
| Myopathy, Myofibrillar, 2 |
|
Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m... |
OMIM:608810 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac... |
OMIM:300209 |
| Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Meningitis, Hepatomegaly, Abdominal pain, Pericardial ... |
ORPHA:36412 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... |
OMIM:255160 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Reduced natural... |
OMIM:620133 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis,... |
OMIM:619164 |
| Schnitzler Syndrome |
|
Fever, Increased bone mineral density, Splenomegaly, Leukocytosis, Increased circulating IgM leve... |
ORPHA:37748 |
| Whipple Disease |
|
Myositis, Pericarditis, Splenomegaly, Myocarditis, Uveitis, Arthritis, Infectious encephalitis, A... |
ORPHA:3452 |
| Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Increased circulating antibody level, ... |
ORPHA:411593 |
| Mogs-Cdg |
|
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Inappr... |
ORPHA:79330 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Respirat... |
OMIM:613561 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Neuronal Intestinal Pseudoobstruction |
|
Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Diarrhea, Abnormal lactate dehydrogenase level, Vomi... |
ORPHA:42 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... |
ORPHA:26793 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Eczema, Recurrent infections |
OMIM:614493 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Retrobulbar optic neuritis, Obesity, Feeding difficulties, Hyperg... |
OMIM:619737 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Primary gonadal insufficiency, Gliosis |
OMIM:603896 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Optic atrophy, Pigmentary ... |
OMIM:252011 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Inflammatory abnorma... |
ORPHA:3392 |
| X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
| Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Pachygyria, Lissencephaly, Gliosis |
OMIM:300215 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hypergonadotropic hypogonadism, Flexion contracture, Hypoalbuminemia, Hypocholesterol... |
OMIM:212065 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... |
ORPHA:169090 |
| Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Atrial septal defect, ... |
OMIM:615981 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
| Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Flexion contracture, Gliosis, Basal ganglia gliosis, Polymicrogyria, Recurren... |
ORPHA:79243 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lymphadenitis, Infla... |
OMIM:615895 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Recurrent upp... |
OMIM:602450 |
| Boutonneuse Fever |
|
Fever, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytop... |
ORPHA:83313 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Hypo... |
ORPHA:3409 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morph... |
ORPHA:1145 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
| Sneddon Syndrome |
|
Mental deterioration, Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Cognitive impairment, Hypot... |
ORPHA:369873 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis ... |
OMIM:612541 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Abdominal distention, Diarrhea, Cholest... |
OMIM:608104 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
| Alveolar Echinococcosis |
|
Fever, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abdominal... |
ORPHA:284 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
| Sepsis In Premature Infants |
|
Fever, Hepatomegaly, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Enterocolitis, Gastr... |
ORPHA:90051 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... |
ORPHA:228426 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Atopic dermatitis, Hypochromic microcytic anemia, Gliosis, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypothermia |
ORPHA:159 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting |
OMIM:238970 |
| Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Gastrointestinal dysmotility, Bloody diarrhea, Hypoalbuminemia, Cough, Constrictiv... |
ORPHA:67 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Hepatic failure, Poor suck |
OMIM:614886 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Gliosis, Vomiting, Glycosuria, Hepati... |
OMIM:231680 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Osteoarthritis, Osteoporosis, Obesity, Depression, Hypertension, Hyperos... |
ORPHA:77296 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Feeding difficulties in infancy, ... |
OMIM:161800 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Dysphagia, Hepatic failure, Episodic vomiting, Anemia |
OMIM:607426 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane... |
OMIM:304790 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:179494 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Huntington Disease |
|
Gliosis |
OMIM:143100 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Pachygyria, Gliosis |
ORPHA:168486 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Abnormal neuron ... |
ORPHA:163681 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
| Childhood-Onset Nemaline Myopathy |
|
Reduced vital capacity, Scapular winging, Respiratory insufficiency due to muscle weakness, Flexi... |
ORPHA:171439 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Decreased liver function |
OMIM:614883 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:300718 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
| Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... |
ORPHA:48435 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
| Rift Valley Fever |
|
Skin rash, Severe viral infection, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, I... |
ORPHA:319251 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Feeding difficulties in infancy, Obesity, Recurrent infections, Hypoplastic left heart, High pala... |
OMIM:610543 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota... |
OMIM:210900 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ... |
OMIM:615468 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Short attention span, Hepatomegaly, Large for gestational age, Splenomegaly, Obesit... |
OMIM:605309 |
| Chung-Jansen Syndrome |
|
Thick eyebrow, Impulsivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Feeding diff... |
OMIM:617991 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Membranous subvalvular aorti... |
ORPHA:3191 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Gliosis, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Thenar muscle atrophy, Obesity, Macular degeneration, Dysphagia, Mental ... |
OMIM:604360 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Hypoglycemic seizures, Tics, High palate, Gastroesophageal reflu... |
OMIM:616364 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Obesity |
OMIM:615988 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating... |
ORPHA:2902 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration... |
OMIM:614399 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia, Congenital alopecia totalis |
ORPHA:169095 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Myocardial infarction, Cerebral hemorrhage, Congestive hear... |
ORPHA:90065 |
| Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... |
ORPHA:3261 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Recu... |
OMIM:620005 |
| Familial Mediterranean Fever |
|
Fever, Acute hepatic failure, Pericarditis, Nausea and vomiting, Skin rash, Intestinal obstructio... |
ORPHA:342 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... |
OMIM:301000 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Attention deficit hyperactivity disorder, Decreased circula... |
OMIM:617062 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Elevated circulating creatine kinase conc... |
OMIM:616809 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Pachygy... |
ORPHA:258 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial... |
ORPHA:470 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Elevated circulating cr... |
OMIM:167320 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Ragged-red muscle fibers, Proximal muscle weakness in lower limbs, Facial palsy, Elevated circula... |
OMIM:616209 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Merrf |
|
Ragged-red muscle fibers, Optic atrophy, Multiple lipomas, Myopathy, Cognitive impairment |
ORPHA:551 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Arthritis, C... |
ORPHA:465508 |
| Giant Cell Arteritis |
|
Fever, Pericarditis, Anorexia, Abdominal pain, Arthritis, Gastrointestinal infarctions, Hepatic f... |
ORPHA:397 |
| Radio-Tartaglia Syndrome |
|
High, narrow palate, Synophrys, Low anterior hairline, High palate, Gastroesophageal reflux, Abno... |
OMIM:619312 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Insulin resistance, Obesity, Hypertension, Type ... |
OMIM:615703 |
| Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615987 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... |
ORPHA:94065 |
| X-Linked Agammaglobulinemia |
|
Fever, Recurrent cutaneous abscess formation, Osteomyelitis, Recurrent pneumonia, Sepsis, Agammag... |
ORPHA:47 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
| Zygomycosis |
|
Brain abscess, Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, In... |
ORPHA:73263 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dilated cardio... |
OMIM:612937 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Abdominal distention, ... |
OMIM:617156 |
| Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Dubowitz Syndrome |
|
Short attention span, Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Hypoch... |
OMIM:223370 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Joint stiffness, Respiratory insufficiency due to muscle... |
ORPHA:598 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Vomiting, Decreased liver function |
OMIM:602199 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,... |
ORPHA:53035 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... |
OMIM:255310 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... |
OMIM:256500 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Gliosis, Abnormality of neuronal migration |
OMIM:300957 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Prader-Willi syndrome (Type 1) |
|
Feeding difficulties in infancy, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Feeding difficulties in infancy, Truncal obesity |
DECIPHER:53 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Abdominal pain, Central... |
ORPHA:86812 |
| Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillifor... |
ORPHA:99827 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Obesity, Low posterior hairline |
OMIM:300577 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Obesity, Feeding difficulties,... |
OMIM:600430 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Progressive neurologic deterioration, Monoclonal immunog... |
ORPHA:91139 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:615952 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
| Peroxisome Biogenesis Disorder 8B |
|
Constipation, Decreased liver function, Dysphagia |
OMIM:614877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Recurrent aspiration pneumonia, Astrocytosis |
ORPHA:204 |
| Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Abdominal distention, Obesity, Depression, Constipation |
OMIM:103200 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia |
ORPHA:1802 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Nausea and vomiting, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... |
OMIM:615418 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Muscle fiber ne... |
OMIM:607459 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... |
OMIM:619750 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestationa... |
ORPHA:2959 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Shoulder girdle muscle atrophy, Dysphagia, Weakness of... |
OMIM:181400 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, I... |
OMIM:617021 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... |
ORPHA:537 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... |
ORPHA:70591 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Elevated circula... |
ORPHA:353 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... |
ORPHA:99901 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Fever, Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Elevated circul... |
OMIM:242900 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Renal tubular epithelial necrosis, Episodic abdominal pain, ... |
ORPHA:157 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic st... |
ORPHA:79259 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Obesity, Sparse body hair |
ORPHA:85274 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Feeding difficulties in infancy... |
ORPHA:1454 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... |
OMIM:604416 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Reduced bone mineral density, Agammaglobulinemia, Cognitive imp... |
ORPHA:935 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness, Depression, EMG: myopathic abn... |
OMIM:609286 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel... |
OMIM:608358 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gliosis |
OMIM:213200 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis |
OMIM:300857 |
| Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Obesity, Myocardial infarction |
OMIM:608320 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Mildly eleva... |
ORPHA:399086 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Decreased serum insulin-like growth factor 1, Par... |
ORPHA:79324 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Developmental And Epileptic Encephalopathy 75 |
|
Feeding difficulties in infancy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
| Myopathy, Myofibrillar, 5 |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency, Muscle fiber cytop... |
OMIM:609524 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
| Tick-Borne Encephalitis |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unus... |
ORPHA:297 |
| Necrotizing Enterocolitis |
|
Shock, Neonatal sepsis, Small for gestational age, Apnea, Abdominal distention, Leukocytosis, Per... |
ORPHA:391673 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Neoplasm, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atr... |
ORPHA:353281 |
| Peroxisome Biogenesis Disorder 5B |
|
Decreased liver function |
OMIM:614867 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... |
OMIM:251290 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis |
OMIM:221820 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mastocytosis |
ORPHA:66661 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:617070 |
| Alg1-Cdg |
|
Chronic diarrhea, Decreased liver function |
ORPHA:79327 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Poor appetite, Gastrointestinal dysmotility, Ragged-red muscle fibers, Vom... |
ORPHA:298 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent otitis media, Hepatic failure, Feeding difficulties |
OMIM:619758 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Weakne... |
OMIM:258450 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Dysphagia, Hepatic failure, Anemia |
OMIM:608013 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypothermia, Feeding difficulties, Bile duct proliferation, Decrea... |
OMIM:618329 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Seve... |
OMIM:616433 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft... |
ORPHA:261197 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... |
ORPHA:100078 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Hepatitis, Feeding difficulties, ... |
ORPHA:415 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... |
ORPHA:469 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... |
ORPHA:1349 |
| Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ... |
OMIM:615994 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... |
ORPHA:206572 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
| Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Spl... |
ORPHA:829 |
| Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... |
ORPHA:263494 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... |
OMIM:618213 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Neonatal respira... |
ORPHA:244 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg... |
ORPHA:550 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Short attention span, Craniosynostosis, Aggressive behavior, Obesity, Recurrent infections, Feedi... |
OMIM:619056 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Depression |
ORPHA:276630 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Poor appetite, Respiratory insufficiency due ... |
ORPHA:352447 |
| 48,Xxxy Syndrome |
|
Recurrent respiratory infections, Pulmonary embolism, Cryptorchidism, Asthma, Obesity, Cleft pala... |
ORPHA:96263 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Craniosynostosis, Cryptorchidism,... |
ORPHA:254346 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Central Core Disease |
|
Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Elevated circulating cr... |
ORPHA:597 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Elevated circulating creatine kinase concentration, Facial palsy, Dyspnea, Dilated cardiomyopathy... |
OMIM:615084 |
| Japanese Encephalitis |
|
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level, Meningitis, ... |
ORPHA:79139 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Respiratory insufficiency due to muscle weakness, Irritability, Ragged-red muscle fibers, Skeleta... |
OMIM:300816 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
| Aregenerative Anemia |
|
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:101096 |
| Cog2-Cdg |
|
Decreased liver function |
ORPHA:435934 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Renal tubular epithelial necrosis, Feeding difficulties, Tub... |
ORPHA:228308 |
| Griscelli Syndrome |
|
Fever, Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia... |
ORPHA:381 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Obesity, Cleft palate, Recurrent infections, Long eyelashes,... |
OMIM:618089 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Increased fecal coproporphyrin 3, Confusion, Ankle flexion contracture, Nausea, Abn... |
ORPHA:100924 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:300257 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Acne, Osteoporosis, Incr... |
ORPHA:189427 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... |
OMIM:260920 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Chorioretinal hypopigmentatio... |
ORPHA:398069 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Sple... |
ORPHA:848 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Short attention span, Progressive distal muscular atrophy, Obesity, Telangiectasia, Muscular dyst... |
ORPHA:459033 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Thick eyebrow, Recurrent urinary tract infections, Ventricular septal defec... |
OMIM:619229 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Hepatomegaly, Normocytic anemia, Neutrophilia, Acute myeloid leukemia, Eosinophilia, Abdom... |
ORPHA:98849 |
| Mirage Syndrome |
|
Sepsis, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspiration pneumonia, Achal... |
OMIM:617053 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Autoimmune Hepatitis |
|
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... |
ORPHA:2137 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Disproportionate ta... |
OMIM:301039 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Eczema, Obesity |
ORPHA:3055 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart morphology, Ca... |
OMIM:175700 |
| Kleefstra Syndrome |
|
Bicuspid aortic valve, Synophrys, Gastroesophageal reflux, Chronic otitis media, Abnormal repetit... |
ORPHA:261494 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Jaundice, Splenomegaly... |
OMIM:222470 |
| Mirizzi Syndrome |
|
Fever, Elevated hepatic transaminase, Abdominal colic, Anorexia, Nausea, Abdominal pain, Abdomina... |
ORPHA:521219 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Pituitar... |
ORPHA:71526 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Eczema, Gastrointestinal dysmotility, Neut... |
ORPHA:506 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Vomiting, Elevated hepatic transaminase |
OMIM:615453 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
| Zellweger Syndrome |
|
Feeding difficulties in infancy, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:912 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc... |
ORPHA:83597 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis |
OMIM:618369 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... |
ORPHA:634 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... |
ORPHA:276435 |
| 11P15.4 Microduplication Syndrome |
|
Synophrys, Obesity, Highly arched eyebrow, Aggressive behavior |
ORPHA:300305 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... |
OMIM:203800 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Retinal dystrophy, Obesity |
OMIM:616756 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis, Pneumonia |
OMIM:608033 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Hypothermia, Abnormality of Krebs cycle metabolism, Dysphagia, Hepatic failu... |
ORPHA:255210 |
| Ck Syndrome |
|
Irritability, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Feeding difficulties in infancy, Hepatic failure |
OMIM:619355 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemi... |
OMIM:226300 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Diabetes insipidus, Decreased circulating antibody level |
ORPHA:1445 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss, ... |
ORPHA:251071 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Hypopigmentation of hair, Feeding difficulties in infancy, O... |
ORPHA:411515 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
| Monosomy 18Q |
|
Hypothyroidism, Joint hypermobility, Secondary growth hormone deficiency, Decreased circulating I... |
ORPHA:1600 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... |
ORPHA:117 |
| Poliomyelitis |
|
Meningitis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Cryptorchidism, Flex... |
OMIM:616222 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... |
OMIM:520000 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu... |
ORPHA:95717 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Ch... |
ORPHA:774 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased circulating complement factor B concentration... |
ORPHA:2298 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hepatic failure |
OMIM:235255 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated ... |
ORPHA:486815 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Congenital contracture, Gliosis |
OMIM:277470 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis |
OMIM:604484 |
| Tatton-Brown-Rahman Syndrome |
|
Thick eyebrow, Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection... |
ORPHA:404443 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Constipation, Decreased liver function, Feeding difficulties |
OMIM:618606 |
| Spinocerebellar Ataxia 17 |
|
Gliosis |
OMIM:607136 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Synophrys, Tics, Vomiting, Compulsive behaviors, Otit... |
OMIM:619475 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
| Congenital Myopathy 14 |
|
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... |
OMIM:618414 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... |
OMIM:617718 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Abnormal heart morphology |
DECIPHER:16 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Osteoporosis, Depression, Truncal obesi... |
OMIM:219080 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... |
OMIM:614602 |
| Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Decreased liver function, Feeding difficul... |
ORPHA:79321 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Failure to thrive, Highly arched eyebrow, Protruding tongue, Cryptorchidism... |
ORPHA:96147 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Abnormal cortical gyration, Spinal muscul... |
OMIM:616867 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles, Dysphagia |
OMIM:147421 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Obesity, Low posterior hairline, Mitral valve prolapse, High palate, Abno... |
ORPHA:2233 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Gliosis |
OMIM:614498 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... |
ORPHA:75840 |
| Myopathy, Myofibrillar, 8 |
|
Reduced vital capacity, Scapular winging, Joint hypermobility, Elevated circulating creatine kina... |
OMIM:617258 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Dia... |
ORPHA:85450 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Feeding difficulties in infancy, Obesity, Abnormal heart morphology |
ORPHA:254525 |
| Leukocyte Adhesion Deficiency |
|
Recurrent staphylococcal infections, BCGosis, Sepsis, Meningitis, Polycythemia, Perianal abscess,... |
ORPHA:2968 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus... |
OMIM:620265 |
| Coccidioidomycosis |
|
Fever, Coccidioidal meningitis, Osteomyelitis, Abscess, Eosinophilia, Abnormality of the endocrin... |
ORPHA:228123 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Incre... |
ORPHA:276608 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, High, narrow palate, Obesity, Low posterior hairline, Mit... |
ORPHA:2183 |
| Plague |
|
Respiratory distress, Chapped lip, Glossitis, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, A... |
ORPHA:707 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Episodic vomiting, Pi... |
OMIM:615873 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Portal hypertension |
OMIM:619431 |
| 14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Feeding difficulties in infancy, Obesity, Attention d... |
ORPHA:261229 |
| Papa Syndrome |
|
Fever, Limitation of joint mobility, Arthritis, Increased circulating antibody level, Type I diab... |
ORPHA:69126 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Splenic... |
OMIM:603903 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Hepatosplenomegaly... |
ORPHA:1655 |
| Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Neoplasm, Co... |
ORPHA:99867 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... |
OMIM:301072 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Facial palsy, Respiratory insuf... |
OMIM:500009 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, D... |
ORPHA:36397 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni... |
ORPHA:1775 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Aggressive behavior, Low cholesterol esterification rate, S... |
ORPHA:646 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Joint hypermobility, Oral-pharyngeal dysphagia, Synophrys, Obesity, Long eyelashes, High palate, ... |
ORPHA:480907 |
| Melioidosis |
|
Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Foot osteomyelitis, Pneumonia... |
ORPHA:31202 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Patent foramen ovale, Obesity, Limited shoulder movement |
OMIM:618821 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, S... |
ORPHA:379 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Dementia, Mental deterioration, Attention deficit hyperactivity disorder |
ORPHA:52368 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... |
OMIM:209900 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp... |
OMIM:264700 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... |
ORPHA:2268 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Gliosis, Atrophy/Degeneration affecting the brainstem, Basal ganglia gliosis, Thrombocyto... |
OMIM:614946 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Gliosis, Abnormal brainstem morphology |
ORPHA:88619 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Feeding difficulties in infancy, Distal joint laxity, Flexion contrac... |
OMIM:254090 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Hypothermia, Decreas... |
ORPHA:90674 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Limitation of joint mobility, Recurrent fever, Increased circulating IgA level |
ORPHA:343 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Feeding difficulties in infancy, Reduced ... |
OMIM:619178 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Obesity |
OMIM:300803 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Cholestasis, Diffuse hepatic steatosis, Poor suck, Chronic hepat... |
ORPHA:746 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Progressive neurolo... |
OMIM:614947 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Cryptorchidism, S... |
OMIM:300354 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Joint hyperflexibility, High palate, Obesity |
ORPHA:1035 |
| Cohen Syndrome |
|
Thick eyebrow, Bone spicule pigmentation of the retina, Small for gestational age, Decreased resp... |
OMIM:216550 |
| Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obes... |
OMIM:614962 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis |
ORPHA:464 |
| Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Granuloma, Infectious encephalitis, Increa... |
ORPHA:68 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... |
OMIM:619477 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Sagittal craniosynostosis, Cryptorchidism, Patent ductus arteriosus, O... |
OMIM:201000 |
| Rafiq Syndrome |
|
Joint laxity, Broad eyebrow, Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Aggressive beh... |
OMIM:614202 |
| Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Cryptorchidism, Truncal obesity, Failure to thrive, Sparse body hair |
ORPHA:261483 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227990 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Anemia |
OMIM:618835 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp... |
OMIM:277440 |
| Proteus Syndrome |
|
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Osteoporosis, Depression, Truncal obesity, Ovarian cyst, Hypertension, Agitation, Men... |
OMIM:610475 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
OMIM:619473 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Anemia |
OMIM:618839 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... |
ORPHA:227982 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... |
OMIM:615959 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hepat... |
OMIM:606812 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Optic atrophy, C... |
ORPHA:401768 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... |
ORPHA:329249 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function, Feeding difficulties |
OMIM:614922 |
| Follicular Lymphoma |
|
Splenomegaly, Meningitis |
ORPHA:545 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis |
ORPHA:275872 |
| Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Reduced bone miner... |
ORPHA:881 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Reduced forced vital capac... |
OMIM:620249 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... |
ORPHA:567 |
| Spontaneous Periodic Hypothermia |
|
Skin rash, Ataxia, Hypothermia, Hyperhidrosis, Gait disturbance |
ORPHA:29822 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:1451 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance,... |
ORPHA:73272 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Splenomegaly, ... |
ORPHA:79083 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... |
OMIM:181000 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Epidermolysis Bullosa Acquisita |
|
Diabetes mellitus, Abdominal pain, Abnormal hair morphology, Inflammation of the large intestine,... |
ORPHA:46487 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Joint stif... |
ORPHA:29207 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypoalbuminemia, Hypernatremia... |
OMIM:615508 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset t... |
ORPHA:71529 |
| Hsd10 Disease |
|
Short attention span, Abnormal social behavior |
ORPHA:391417 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Poor suc... |
OMIM:615547 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Nasogastr... |
ORPHA:254864 |
| Mehmo Syndrome |
|
Cryptorchidism, Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Delayed ossification of... |
OMIM:617425 |
| Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Elevated hepatic transaminase, Hypoplasia of the fovea, Retinal atrophy,... |
OMIM:617406 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Obes... |
ORPHA:791 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Anemia |
ORPHA:436271 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Spastic Paraplegia Type 7 |
|
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim... |
ORPHA:99013 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Malignant Hyperthermia Of Anesthesia |
|
Fever, Acute hepatic failure, Malignant hyperthermia |
ORPHA:423 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... |
ORPHA:17 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... |
OMIM:619795 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cel... |
ORPHA:508533 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Orthostatic hypotension, Overweight, Obesity, Generalized limb muscle atrop... |
ORPHA:2822 |
| Chops Syndrome |
|
High, narrow palate, Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Paten... |
OMIM:616368 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis |
OMIM:612936 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Feeding difficu... |
ORPHA:254516 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity, Cognitive impairment, Pseudohypoparathyroidism |
OMIM:612463 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity, Hyperinsulinemia, Overgrowth, Red hair, Hepatic steatosis |
OMIM:620195 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Obesity, Cardiomyo... |
ORPHA:98907 |
| Encephalitis Lethargica |
|
Fever, Stiff neck, Recurrent viral infections, Increased circulating antibody level, Mental deter... |
ORPHA:83600 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Anti-acetylcholine receptor a... |
ORPHA:589 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly, Recurrent candida infections, Irritability, Decreased ser... |
OMIM:201100 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Cholangitis, Feeding difficulties in infancy, Microvesicular hepatic steatosis, Rag... |
OMIM:124000 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Cryptorchidism, Insulin resistance, Dilated cardiomyopathy, Simplified gyral p... |
OMIM:616541 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... |
OMIM:615688 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Huntington Disease-Like 1 |
|
Gliosis |
ORPHA:157941 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Progressive neurologic deterioration, L... |
ORPHA:263455 |
| Trichinellosis |
|
Confusion, Increased circulating IgE level, Irritability, Memory impairment, Meningitis |
ORPHA:863 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... |
ORPHA:906 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Diaphragmatic eventration, Spinal muscular atrophy, Secundum atria... |
OMIM:616866 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, L... |
OMIM:615980 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Basal ganglia gliosis, Myofiber disarray, Fee... |
OMIM:604377 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity |
OMIM:301900 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... |
OMIM:608423 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... |
ORPHA:289157 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Aggressive behavior, Protruding tongue, Cryptorchidism, Synophr... |
OMIM:610253 |
| Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... |
ORPHA:96253 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Flexion contracture, S... |
OMIM:603511 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea, Facial hypotonia, Flexion contracture, Obesity, High palate, Bruxism, Macroo... |
OMIM:300055 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, High, narrow palate, Increased body weight, Glucose intolerance, High pala... |
OMIM:117550 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616479 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Decreased liver function, Recurrent fever |
OMIM:614863 |
| Wilson-Turner Syndrome |
|
Truncal obesity, Emotional lability, Thick eyebrow, Cryptorchidism |
ORPHA:3459 |
| Sarcoidosis |
|
Fever, Hepatomegaly, Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Hypothermia, Portal... |
ORPHA:797 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Abnormal eating behavio... |
OMIM:614963 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p... |
ORPHA:98905 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Joint stiffness, Feeding difficulties in infanc... |
ORPHA:819 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Rod-cone dystrophy, Obesity |
OMIM:615985 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ragged-red muscle fibers, Cardiomyop... |
OMIM:530000 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:609560 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity, Depression, Vomiting, Abnormal emotion, Nausea |
ORPHA:238624 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Failure ... |
ORPHA:193 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
| Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Joint stiffness, Recurrent inf... |
ORPHA:1493 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:608779 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Feeding difficulties, High palate, Recurrent otiti... |
ORPHA:254531 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Cutaneous abscess, Eosinophilia, Increased circulating I... |
ORPHA:555905 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Ragged-red muscle fibers, I... |
ORPHA:70595 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Fever, Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Juv... |
ORPHA:85414 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Cryptorchidism, Pyloric stenosis... |
ORPHA:96184 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High... |
ORPHA:353277 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| White-Sutton Syndrome |
|
Joint laxity, Abnormality of the gastrointestinal tract, Hyperactivity, Facial hypotonia, Congeni... |
ORPHA:468678 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Elevated circulating creatine kin... |
ORPHA:206569 |
| Igg4-Related Pachymeningitis |
|
Confusion, Elevated circulating C-reactive protein concentration, Eosinophilia, Increased circula... |
ORPHA:449427 |
| Peroxisome Biogenesis Disorder 6B |
|
Decreased liver function, Prolonged neonatal jaundice |
OMIM:614871 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decreased circulating ... |
OMIM:248500 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Cap Myopathy |
|
Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:171881 |
| Pneumocystosis |
|
Fever, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Increased circulating antibod... |
ORPHA:723 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity, Retinal degeneration |
OMIM:614845 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Hand muscle... |
ORPHA:98908 |
| 2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Eczema, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Pyloric s... |
ORPHA:1001 |
| 13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:412035 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Myocardial infarction, Bronchiectasis, A... |
ORPHA:60033 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Abnormal cortical gyration, Elevated circulating creatine kinase concentration, Respiratory insuf... |
OMIM:607855 |
| Myopathy, Distal, Tateyama Type |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:614321 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod... |
OMIM:615986 |
| Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Overweight,... |
ORPHA:247353 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hypopigmentation of hair, Hyperactivity, ... |
ORPHA:98794 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Tarp Syndrome |
|
Hepatic failure |
OMIM:311900 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Macular hypopigmentation, Rod-cone dystrophy, Polyphagia |
OMIM:617119 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... |
ORPHA:79474 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Joint laxity, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Central... |
OMIM:617760 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Congestive heart failure, Pancreatitis, Abnormalit... |
ORPHA:2348 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Simplified gyral pattern, Abnormal optic disc morphology, High p... |
ORPHA:96121 |
| Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, High palate, Obesity, Aggressive behavior |
OMIM:617752 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Microtriplication 11Q24.1 |
|
Synophrys, Limitation of joint mobility, Obesity, Cleft palate, Long eyelashes, Bruxism, Thick ey... |
ORPHA:289522 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Distal joint laxity, Limb-girdle mu... |
OMIM:616228 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovarie... |
ORPHA:3085 |
| Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
| Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Retinal dystrophy, Low anterior hairline, Obesity, Chronic constipation, A... |
ORPHA:261222 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Anemia |
OMIM:220110 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, H... |
OMIM:616313 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Po... |
ORPHA:284180 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Poor appetite, Abdominal pain, Congestive heart failure, Ragged-red muscle fibers, Respiratory fa... |
OMIM:616794 |
| Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... |
ORPHA:77259 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Recurrent frac... |
ORPHA:2176 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy |
OMIM:601705 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Recurrent fractures, Craniosynostosis, Progressive psyc... |
ORPHA:251004 |
| Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Obesity |
OMIM:615984 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Bulimia, Optic atrophy, Obesity, Mitral regurgitation, Pulmonar... |
OMIM:614651 |
| Cysticercosis |
|
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level |
ORPHA:1560 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... |
OMIM:613662 |
| Prader-Willi Syndrome |
|
Osteopenia, Hypoventilation, Hypopigmentation of hair, Recurrent respiratory infections, Failure ... |
OMIM:176270 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... |
ORPHA:2388 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Autoimmunity, Hyperglycemia, Polyphagia |
OMIM:222100 |
| Pyoderma Gangrenosum |
|
Fever, Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48104 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... |
ORPHA:324625 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally ... |
OMIM:255320 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital stationary night blindness, Synophrys, Horizontal eyebrow, Obesity |
ORPHA:352530 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Abnormality of the endocr... |
ORPHA:79329 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Perisylvian polymicrogy... |
ORPHA:280195 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus... |
ORPHA:31205 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Intraalveolar phospholi... |
OMIM:610910 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Weakness of facial muscula... |
OMIM:618484 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Skin rash, Reduced bone mineral... |
ORPHA:2909 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Flexion contracture, Recurrent infections, Anemia, Arthritis,... |
OMIM:617591 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis |
OMIM:256600 |
| Alexander Disease |
|
Infectious encephalitis |
ORPHA:58 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Cryptorchidism, Obesity, Respiratory insufficiency, Rod-cone dy... |
OMIM:615633 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Obesity, Cholestasis, Tubulointerstitial nephritis, Macular degene... |
OMIM:616629 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Ocular albinism, Hematochezia, Car... |
OMIM:203300 |
| Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Diabetes mellitus, Ventricular septal defect, Highly arched eyebrow, Synophrys... |
OMIM:270450 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp... |
ORPHA:26790 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Patent ductus arteriosus, Fine hair, Joint hyperflexibility, Tr... |
ORPHA:2637 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Obesity, Cleft palate, Truncal obesity, H... |
OMIM:618363 |
| Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Feeding difficulties in infancy, Cryptorchidism, Synophrys, Low anterior h... |
OMIM:300882 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Increased bone mineral density, Splenomegaly, Ost... |
ORPHA:77261 |
| X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Obesity, Hypomimic face |
ORPHA:93952 |
| Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Microcytic anemia, Inc... |
OMIM:600462 |
| Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... |
ORPHA:565612 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Elevated ci... |
OMIM:619424 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial... |
ORPHA:904 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, High palate, T... |
OMIM:605637 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Recurrent respiratory infections, Decreased muscle mass,... |
ORPHA:3041 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Splenomegaly, Primary adrenal insufficiency, Gliosis, Polymicrogyria |
OMIM:261515 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Gliosis, Tracheomalacia |
ORPHA:261652 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Obesity, Radioulnar synostosis |
ORPHA:171839 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Abdominal symptom, Increased bone mineral density, Calcinosis, Confusion, ... |
ORPHA:79443 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus, Addictive alcohol use, ... |
ORPHA:399180 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Arthrogryposis multiplex congenita, Gliosis, Atrophy/Degeneration affecting the brainstem |
OMIM:617193 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Restrictive ventilator... |
ORPHA:369840 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Ele... |
OMIM:618268 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion cont... |
OMIM:194050 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
| Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... |
OMIM:602771 |
| Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Abdominal symptom, Increased bone mineral density, Calcinosis, Confusion, ... |
ORPHA:79444 |
| Monosomy 13Q34 |
|
Epistaxis, Insulin resistance, Obesity, Hematochezia, Horizontal eyebrow, Pulmonic stenosis, Comm... |
ORPHA:96168 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Donohue Syndrome |
|
Skeletal muscle atrophy, Abdominal distention, Hyperinsulinemia, Cholestasis, Recurrent infection... |
OMIM:246200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow |
ORPHA:2429 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Incr... |
ORPHA:449395 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... |
ORPHA:79240 |
| Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Decreased circulating total IgM, Hypogonadism... |
OMIM:602668 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Synophrys, Perisylvian polymicrogyria, Encopresis, Obesity, High palate, Gastroesop... |
OMIM:618443 |
| Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Megalencephaly |
|
Atrial septal defect, Truncal obesity, Macroorchidism |
ORPHA:2477 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa... |
OMIM:118450 |
| Exercise-Induced Malignant Hyperthermia |
|
Malignant hyperthermia, Vomiting, Decreased liver function, Hepatic failure, Nausea, Thrombocytop... |
ORPHA:466650 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Nasogastric tube feeding in in... |
ORPHA:739 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Osteoporo... |
ORPHA:398079 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle... |
OMIM:617066 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Depression, Diabetes mellitus, Decreased circulat... |
OMIM:604928 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:226313 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Gliosis, Macrogyria |
ORPHA:280210 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Abnormality of the thyroid gland, Increased circu... |
ORPHA:449432 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Aggressive behavior, Submucous cleft hard palate, Obesity, Attention deficit hyperac... |
OMIM:619680 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Rhabdomyolysis, Neuromuscular dysphagia,... |
ORPHA:449285 |
| Progressive Multifocal Leukoencephalopathy |
|
Hematological neoplasm, Decreased proportion of CD8-positive T cells, Abnormal oligodendroglia mo... |
ORPHA:217260 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Recurrent infections, Thyroid... |
OMIM:158350 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Diabetes mellitus, Cholangitis, Ov... |
ORPHA:69663 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums, Poor suck, Thick eyebrow |
ORPHA:171829 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis |
OMIM:616239 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Retinoschisis, Mildly elevated creat... |
OMIM:610542 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Hy... |
OMIM:219090 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Respiratory... |
OMIM:620285 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Hyperhidrosis, Painless fractures due to injury, Recurrent aspiration pneumonia, Self-... |
ORPHA:642 |
| 1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Retinal dystrophy, Obesity |
ORPHA:464282 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... |
OMIM:619461 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... |
ORPHA:221008 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis |
OMIM:169500 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Retinal detachment, Decreased muscle mass, Distal joint laxity, Generalized joint lax... |
ORPHA:1900 |
| Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Hepatomegaly, Hypoglycemia, Aggressive behavior, Abnormal repetitive manner... |
OMIM:301066 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Bilateral cryptorchidism, High, narrow palate, Feeding difficulties in infa... |
OMIM:180849 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, ... |
OMIM:188400 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Asthma, Atopic dermati... |
OMIM:618999 |
| Caffey Disease |
|
Fever, Joint hypermobility, Periosteal thickening of long tubular bones, Subperiosteal bone forma... |
OMIM:114000 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
| Ebola Hemorrhagic Fever |
|
Fever, Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, Widow's pea... |
OMIM:620072 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Aplasia of ... |
ORPHA:3138 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Hypopigmentation of hair, Polyphagia, Obesity |
ORPHA:177910 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Osteoporosis, Depression, Truncal obesity, Hypertension, Agitation, Mental deteriorat... |
OMIM:610489 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... |
ORPHA:48377 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Obesity, Foot dorsiflexor weakness |
OMIM:618124 |
| Distal Deletion 12Q |
|
High, narrow palate, Biliary atresia, Proportionate tall stature, Patent foramen ovale, Self-muti... |
ORPHA:96149 |
| Cystic Fibrosis |
|
Osteopenia, Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormali... |
ORPHA:586 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Vomiting, Hepatic failure |
OMIM:252010 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnormal pi... |
ORPHA:64744 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Keratitis, Scarring alopecia of scalp, Motheaten muscle fibers, Na... |
OMIM:226670 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, High palate, Fasting ... |
ORPHA:769 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ataxia, Anorexia, Hypothermia, Jaundic... |
ORPHA:20 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Hypothermia, Delayed proximal femoral epiphyseal ossification,... |
ORPHA:90673 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Obesity, Hirsutism |
OMIM:619255 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Obesity, Long eyelashes, High palate, Jo... |
OMIM:620191 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Elevated circulating creatine kinase concentration, Qua... |
OMIM:603689 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Atopic dermatitis, Obesity |
OMIM:606772 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Ataxia, Depression |
ORPHA:314404 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Cryptorchidism, Advanced ossification of carpal bones, Obesity,... |
OMIM:614613 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Constipation, Compulsive behav... |
OMIM:618430 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Leukopenia, Vomiting, Sparse hair, Nausea, Hepatomegaly, Osteoporosis, R... |
OMIM:222700 |
| Myoclonic Epilepsy Of Lafora |
|
Hepatic failure |
OMIM:254780 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Atopic dermatitis, Obesity |
ORPHA:397973 |
| Say-Barber-Miller Syndrome |
|
Craniosynostosis, Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Decrease... |
ORPHA:3132 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Tachypnea, Diarrhea, Weight loss, Hypertensio... |
ORPHA:134 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Re... |
OMIM:615966 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Feeding difficulties in... |
ORPHA:116 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre... |
ORPHA:293964 |
| Cystic Echinococcosis |
|
Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Bone cyst, Increased circ... |
ORPHA:400 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormal midbrain ... |
ORPHA:356961 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thyroiditis, Decreased circulating antibody level, Complement deficiency, Leuk... |
ORPHA:289390 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Joint laxity, Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy,... |
ORPHA:353327 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Myocardial infarction, Abdominal pain, Intestinal perforation, Le... |
ORPHA:90038 |
| Tay-Sachs Disease |
|
Precocious puberty, Hepatosplenomegaly, Gliosis, Aspiration pneumonia, Limited knee extension, Li... |
ORPHA:845 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... |
ORPHA:444077 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormality of thyroid physiology, Abnormal lymphocyte physiology, Thro... |
ORPHA:1830 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... |
ORPHA:600 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hyperactivity, Retinal pigment epithel... |
OMIM:251260 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Cleft palate, Disproportionate t... |
OMIM:615300 |
| Meningioma |
|
Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Upper limb muscl... |
ORPHA:2495 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Obesity, High palate, Sparse hair, Decreased testicular size, Joint... |
OMIM:619185 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossification, Cognitive impairment |
OMIM:103580 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating c... |
OMIM:164310 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, L... |
ORPHA:300605 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Machado-Joseph Disease |
|
Gliosis |
OMIM:109150 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hypothermia, Hyperhidrosis |
OMIM:245400 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Pancytopenia, Gliosis |
OMIM:618321 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Advanced ossification of carpal bones, Obesity, Polycystic ovaries, Overgrow... |
OMIM:616831 |
| Bdv Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Atrial septal defect |
OMIM:619326 |
| Angelman Syndrome |
|
Vomiting, Gastroesophageal reflux, Hyperactivity, Tongue thrusting, Obesity, Constipation, Recurr... |
ORPHA:72 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly... |
ORPHA:90041 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Ataxia, Progressive flexion contractures, Depression, Gait ataxia, Compulsive behaviors, Rheumato... |
ORPHA:98808 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Apnea, Hypoglycemia, Optic nerve hypoplasia, Joint stiffness, Secundum atrial ... |
OMIM:609069 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, De... |
ORPHA:1572 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Man1B1-Cdg |
|
Long eyebrows, Periventricular heterotopia, Sparse eyebrow, Abnormal position of hair whorl, Trun... |
ORPHA:397941 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Splenomegaly, Achilles tendon contracture, Reduced bone mineral density, ... |
ORPHA:404454 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ragged-red muscle fibers, Third deg... |
ORPHA:480 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Pyloric stenosis, Ragged-red muscle fibers, L... |
OMIM:616924 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Impaired myocardial contractility, Adrenocortical adenoma, Resp... |
ORPHA:681 |
| Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Synophrys, Truncal obesity, Bruxism, Recurrent hand flapping |
OMIM:613192 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Recurrent pneumo... |
OMIM:301220 |
| Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Feeding difficulties in infancy,... |
OMIM:617137 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Respiratory insufficiency due... |
ORPHA:169189 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, High palate |
ORPHA:85280 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Feeding difficulti... |
OMIM:613658 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Obesity, Macroorchidism, Tall stature |
OMIM:300602 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... |
OMIM:600001 |
| Carpenter Syndrome |
|
Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Obesity, Polysplenia |
ORPHA:65759 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Tricuspid regurgitation, Obesity, Rod-cone dystrophy |
OMIM:600151 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis |
OMIM:619847 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing, Feeding difficulties |
OMIM:619854 |
| Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Obesity, Cognitive impairment, Pseudohypoparathyroidism |
OMIM:612462 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Knee flexion contracture, Decrea... |
OMIM:618162 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Depression... |
ORPHA:444490 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Wagro Syndrome |
|
Multiple exostoses, Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolera... |
OMIM:612469 |
| Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Recurr... |
ORPHA:33364 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Myocarditis, Leukop... |
ORPHA:809 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Barrett esophagus, Necrotizing enterocolitis, Gastroparesis, Intestinal m... |
OMIM:619350 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Skeletal muscle atrophy, Cryptorchidism, Obesity, Hypertension, Pi... |
ORPHA:110 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circula... |
ORPHA:249 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Patent ductus arteriosus, Gastroesophageal reflux, Abdominal pain |
ORPHA:2092 |
| Myhre Syndrome |
|
Sparse hair, Atrial septal defect, Vertebral fusion, Pericardial effusion, Cryptorchidism, Patent... |
OMIM:139210 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Sepsis, Decreased circulating antibody level, Recurrent infections, Hypoalbumin... |
ORPHA:79396 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... |
ORPHA:542323 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Depression, Restricti... |
ORPHA:663 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Depression, Hypertension, Abdominal obesity, Macronodular ad... |
OMIM:615954 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... |
ORPHA:590 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
| African Trypanosomiasis |
|
Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of the endocrine system, Narco... |
ORPHA:3385 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Neonatal respiratory distress, Osteoarthritis, Osteoporosis, Advanced ossification ... |
OMIM:251450 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... |
ORPHA:221016 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... |
ORPHA:86816 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Cryptorchidism, Obesity, Pseudohypoparathyroidism, Feeding difficulties |
ORPHA:464288 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... |
OMIM:619790 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Obesity, Cleft palate, Ectopic anus, High palate, Ca... |
ORPHA:251038 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal cerebellar peduncle morphology, Osteoporosis, Increased susceptibility to fr... |
ORPHA:909 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Abnormal isohem... |
ORPHA:99843 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Neutropenia, Decreased circulating antibody level, Joint hyperflex... |
ORPHA:175 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Recurrent respiratory infections, Thick eyebrow, Aggressive behavior, Asthma, Synophrys, Obesity,... |
ORPHA:466950 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hypertension, Hyperglycemia |
OMIM:608600 |
| Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Protruding tongue, Obesity, Narrow palate, Macroglossia, Typ... |
ORPHA:870 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Nasogastric tube feeding, Ragged-red muscle fibers, Dysphagia |
ORPHA:477774 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Aggressive behavior, Synophrys, Obesity, Narrow palate, Fine hair, Long eyelashes, Overgrowth, Ga... |
OMIM:620250 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Abnormal repetitive mannerisms, Obes... |
OMIM:618653 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Aortic valve atresia, Simplif... |
OMIM:220111 |
| Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
| Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
| Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
| Sheehan Syndrome |
|
Reduced circulating prolactin concentration, Poor appetite, Abnormal size of pituitary gland, Gon... |
ORPHA:91355 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Tongue thrusting, Hyperhidrosis, Choreoathetosis, Athetosis, Irritabili... |
OMIM:608643 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Cryptorchidism, Flexion contracture, Respiratory insufficiency, High pala... |
ORPHA:178148 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia |
ORPHA:562639 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Seborrheic dermatitis, Patent ductus arteriosus, Flexion contracture, Elbow flex... |
OMIM:300868 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Abnormal heart morphology... |
ORPHA:99885 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland, Eczema, Aggressive behavior, Seb... |
ORPHA:369950 |
| Progressive Supranuclear Palsy |
|
Gliosis |
ORPHA:683 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... |
ORPHA:64 |
| Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... |
ORPHA:529962 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Acne, Diabetes mellitus, Osteoporosis, Increased body ... |
OMIM:615830 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Motor tics |
OMIM:500003 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Vomiting, Prominen... |
ORPHA:466677 |
| Rabin-Pappas Syndrome |
|
Hypoventilation, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Highly... |
OMIM:620155 |
| Craniopharyngioma |
|
Nausea and vomiting, Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, M... |
ORPHA:54595 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
| Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Splenomegaly, Progressive psychomotor deterioration, Sea-blue histiocytosis, Thi... |
OMIM:230600 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Optic atrophy, Knee flexion contracture, Inflammation of ... |
OMIM:619708 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath... |
OMIM:602541 |
| Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia, Nasogastric tube feeding |
ORPHA:501 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Camptodactyly of finger, Ankle flexion contra... |
OMIM:617072 |
| Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Cryptorchidism, Insulin resistance... |
ORPHA:813 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity,... |
ORPHA:411511 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Cognitive impairment |
OMIM:616267 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Cryptorchidism, Osteoporosis, Obesity, Decreased testicular size |
OMIM:610628 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Synophrys, Asthma, Nasal flaring, Obesity, Gastrointestinal dysmotility, Rec... |
ORPHA:466943 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Feeding difficulties in infancy, Synophrys, High palate, Gastroesophageal ... |
OMIM:607872 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Reduced circulating prolactin concentration, Osteoporosis, Obesity, Reduced ... |
ORPHA:2235 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... |
OMIM:255200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Joint stiffness, Thrombocytopenia, Flexion contracture, Sepsis,... |
ORPHA:505248 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Facial palsy, Feeding difficulties in infa... |
OMIM:606407 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Recurrent respiratory infections, Osteolytic defects of the phalanges ... |
ORPHA:2484 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Sparse body hair, Decreased testicular size |
ORPHA:2234 |
| Wagr Syndrome |
|
Cryptorchidism, Obesity |
ORPHA:893 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Maculopapular exanthema, Anorexia, Aggr... |
ORPHA:99826 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsulinemia, Rhinitis, Anemia |
ORPHA:230 |
| Adnp Syndrome |
|
Joint laxity, Respiratory distress, Sparse scalp hair, Recurrent urinary tract infections, Oral-p... |
ORPHA:404448 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Papillorenal Syndrome |
|
Joint laxity, Gliosis |
OMIM:120330 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Recurrent pneumonia, Elbow flexion contracture, Obesity, Optic ... |
OMIM:618493 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increased ... |
ORPHA:79078 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Cryptorchidism, Obesity, Hypotension |
ORPHA:439822 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Kabuki Syndrome |
|
Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Cleft palate, Re... |
ORPHA:2322 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, Feeding difficulties in infancy... |
ORPHA:352665 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutropenia, Laryngo... |
OMIM:271510 |
| Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Laron Syndrome |
|
Truncal obesity, Osteoarthritis, Hypoglycemia |
ORPHA:633 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, T l... |
OMIM:607944 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... |
OMIM:300559 |
| Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ... |
ORPHA:3157 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,... |
ORPHA:309031 |
| Isolated Sedoheptulokinase Deficiency |
|
Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Hypochro... |
ORPHA:440713 |
| Gaucher Disease |
|
Osteopenia, Fever, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractur... |
ORPHA:355 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... |
ORPHA:79102 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contrac... |
ORPHA:2152 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
| Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Decreased circulating IgG level, Hypogonadism, Recurrent infections |
OMIM:601675 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ragged-red muscle fibers |
OMIM:615159 |
| Chromomycosis |
|
Keratitis, Ankylosis, Osteolysis, Squamous cell carcinoma, Recurrent bacterial infections, Kerato... |
ORPHA:182 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, I... |
ORPHA:2089 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture, Elevated circulating creatine kinas... |
OMIM:620240 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Aggressive behavior, Syn... |
ORPHA:85293 |
| Momo Syndrome |
|
Large for gestational age, Obesity, Overgrowth, High palate, Chorioretinal coloboma, Abnormal bon... |
ORPHA:2563 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis, Irritability, Camptodactyly of finger |
ORPHA:2135 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Asthma, Obesity, Atrial sep... |
OMIM:619471 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
| Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Joint laxity, Generalized joint... |
OMIM:619472 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
| Shox-Related Short Stature |
|
Skeletal muscle hypertrophy, High palate, Obesity |
ORPHA:314795 |
| Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... |
OMIM:614807 |
| Congenital Disorder Of Deglycosylation 1 |
|
Osteoporosis, Gliosis |
OMIM:615273 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Feeding difficulties in infancy, Cryptorchidism, Joint hyperflexibility,... |
ORPHA:127 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:617885 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:248800 |
| Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Obesity, Macroglossia, Constip... |
OMIM:105830 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis |
OMIM:607485 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Narrow palate, Self-injur... |
OMIM:616078 |
| Sapho Syndrome |
|
Craniofacial osteosclerosis, Enthesitis, Inflammation of the large intestine, Palmoplantar pustul... |
ORPHA:793 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
OMIM:609734 |
| Achondroplasia |
|
Hip joint hypermobility, Obesity, Hypoxemia, Restrictive ventilatory defect, Knee joint hypermobi... |
ORPHA:15 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hypoglycem... |
OMIM:232240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Cryptorchidism, Rec... |
OMIM:241410 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Distal Deletion 19P |
|
Joint hyperflexibility, Decreased circulating antibody level |
ORPHA:96129 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Elevated hepatic transaminase, Recurrent respiratory infections, Diabetes mellitus, C... |
OMIM:614231 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:619518 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Rod-cone dystrophy, Retinal coloboma, Obesity |
ORPHA:363741 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gliosis |
OMIM:168601 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Hirsutism |
OMIM:184700 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad... |
OMIM:300869 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Gastrostomy tube feeding in i... |
OMIM:620278 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
| Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Decrea... |
ORPHA:2136 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Hiatus hernia, Mitral valve prolapse, Proximal amyotrophy, Joint hyper... |
OMIM:606408 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Cerebellar gliosis, Tachypnea, Hyperglycemia, Vomiting, Com... |
ORPHA:3008 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Thick eyebrow, Obesity, Tall stature, Feeding difficulties |
ORPHA:85325 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| White-Kernohan Syndrome |
|
Joint laxity, Synophrys, Broad medial eyebrow, Obesity, Anteriorly placed anus, Long eyelashes, H... |
OMIM:619426 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia |
OMIM:608624 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Obesity |
ORPHA:2180 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... |
ORPHA:449563 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Impaired T cell function, Recurrent infections, Hypocalcemia, Emotional lability |
OMIM:192430 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidis... |
ORPHA:1772 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Feeding difficulties in infancy, Synophrys, Low anterior hairlin... |
ORPHA:199 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:243800 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Ne... |
ORPHA:2908 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, EMG: myopathic abnormal... |
ORPHA:57 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
ORPHA:99027 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Tendon xanthomatosis, Obesi... |
ORPHA:412 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Fever, Elevated circulating C-reactive protein concentration, Elevated circula... |
ORPHA:91500 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... |
ORPHA:324581 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Sparse scalp hair, Alopecia, Hepatomegaly, Calcinosis, Impaired glucose tolerance, Jo... |
OMIM:248370 |
| Menkes Disease |
|
Joint laxity, Wormian bones, Osteoporosis, Hypothermia |
OMIM:309400 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Knee flexion contracture, H... |
OMIM:614976 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal eyelash morphology, Cryp... |
ORPHA:2273 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Reactive hypoglycemia, Malabsorption, Diarrhea, Obesity, Hypoinsulinemia |
OMIM:600955 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... |
ORPHA:309271 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Optic disc pallor, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice, Hy... |
OMIM:612291 |
| Short Syndrome |
|
Joint laxity, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:269880 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Diabetes mellitus, Obesity, Rod-cone dystrophy |
OMIM:605231 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Progressive flexion contractures, Craniosynostosis, Gener... |
ORPHA:93932 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemi... |
OMIM:608612 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Obesity |
ORPHA:174 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis |
OMIM:252160 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Cleft palate, Facial hirsutism, High an... |
ORPHA:247768 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Intermittent hypothermia, Joint hypermobility, Reduced circulating prolact... |
OMIM:223360 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Myocardial infarction, Obesity, Hypertension, Type II diabetes mellitus |
OMIM:618620 |
| Cockayne Syndrome |
|
Diabetes mellitus, Splenomegaly, Absence of pubertal development, Contractures of the large joint... |
ORPHA:191 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis |
OMIM:252150 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Distal arthrogryposis, G... |
ORPHA:506358 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... |
ORPHA:49041 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Obesity |
ORPHA:79445 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Elevated circulating cr... |
OMIM:618416 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Type II diabetes mellitu... |
OMIM:615812 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptor... |
ORPHA:91 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Myocarditis, Hepatitis, Cheilitis, ... |
ORPHA:2331 |
| Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
| Hereditary Late-Onset Parkinson Disease |
|
Gliosis |
ORPHA:411602 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Momo Syndrome |
|
High palate, Overgrowth, Obesity, Retinal coloboma |
OMIM:157980 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis |
OMIM:618222 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Abnormality of the en... |
ORPHA:268261 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Low posterior hairline |
OMIM:611936 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Abdominal distention, Rectal prolapse, I... |
ORPHA:508 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
| Ethylene Glycol Poisoning |
|
Ataxia, Gastritis, Hypothermia, Euphoria, Addictive alcohol use |
ORPHA:31826 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cryptorchidism, Hypothermia |
ORPHA:168593 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Leukocytosis, Recurrent infection of the gastrointestinal tra... |
ORPHA:51890 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Synophrys, High palate, Atrial septal defect, Abnormal repetitive manneris... |
OMIM:612474 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anal stenosis, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Abnormal social behavior |
ORPHA:530983 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Gastroparesis, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, L... |
OMIM:157640 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Tbck-Related Intellectual Disability Syndrome |
|
Prominent metopic ridge, Hyperthyroidism, Decreased response to growth hormone stimulation test, ... |
ORPHA:488632 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Ring Chromosome Y Syndrome |
|
Streak ovary, Unilateral cryptorchidism, Cryptorchidism, Obesity, Gonadoblastoma |
ORPHA:261529 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Splenomegaly, Myocardi... |
ORPHA:50918 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short attention span, Recurrent urinary tract infections, Eczema, Rectal prolapse, Optic disc col... |
OMIM:617157 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ... |
ORPHA:309263 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip... |
OMIM:615947 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Myocarditis, Adrenal pheochromocytoma,... |
ORPHA:892 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
| Kallmann Syndrome |
|
Recurrent fractures, Cryptorchidism, Obesity, Breast hypoplasia, Reduced bone mineral density, Cl... |
ORPHA:478 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Periventricular heterot... |
OMIM:618733 |
| Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... |
OMIM:613960 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... |
ORPHA:900 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
| Xylt1-Cdg |
|
Joint laxity, Hepatomegaly, Acne, Synophrys, Cleft palate, Truncal obesity, Hirsutism |
ORPHA:370930 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lower limb hypertonia, Optic nerve dysplasia, Obesity, Limb hypertonia |
OMIM:617296 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Hypothermia, Thrombocytopenia |
OMIM:618775 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Obesity |
OMIM:618395 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Camptodactyly of finger, Splenomegaly, Increased circulating IgE level, Pancrea... |
ORPHA:373 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Osteomalacia, Elevated circulating aspartate aminotransferase concentration, Poor a... |
OMIM:227810 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... |
ORPHA:1435 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Joint contracture, Gliosis, Camptodactyly |
OMIM:617403 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Feeding d... |
OMIM:613406 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Ataxia, Hypothermia, Megaloblastic anemia, Jaundice, Neutropenia, Stomatitis, Throm... |
ORPHA:79282 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Diets-Jongmans Syndrome |
|
Gliosis, Joint hypermobility |
OMIM:618846 |
| Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Sepsis, Prostatitis |
ORPHA:1546 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Neonatal respiratory distress, Synophrys, Advanced ossification of carpal bones, Cl... |
OMIM:615777 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Stridor, Dysphagia, Tr... |
OMIM:619574 |
| Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
| Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
| Neuroleptic Malignant Syndrome |
|
Hypothermia, Leukocytosis, Hyperhidrosis, Agitation, Aspiration pneumonia, Dysphagia, Thrombocyto... |
ORPHA:94093 |
| Oculodentodigital Dysplasia |
|
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bila... |
OMIM:300219 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Recurrent pneumonia, Decreased calvarial ossi... |
OMIM:613848 |
| Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Hypothermia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, O... |
ORPHA:198 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
| Menkes Disease |
|
Osteomyelitis, Hypoglycemia, Recurrent fractures, Hypothermia, Tarsal synostosis, Osteoporosis, J... |
ORPHA:565 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hype... |
ORPHA:69076 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
| Sponastrime Dysplasia |
|
Joint laxity, Precocious puberty, Delayed epiphyseal ossification, Recurrent pneumonia, Generaliz... |
ORPHA:93357 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration |
OMIM:619024 |
| Bardet-Biedl Syndrome 12 |
|
Rod-cone dystrophy, Obesity, Cognitive impairment |
OMIM:615989 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Decreased circulating antibody level, Anemia, Hepatosplenomegaly, Fus... |
OMIM:274000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:613154 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic va... |
OMIM:182250 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Hypothermia |
OMIM:608800 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Cryptorchidism, Obesity, Gonadoblastoma, Nephroblastoma |
OMIM:194072 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t... |
ORPHA:2769 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis |
OMIM:601104 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Asthma, Obesity, Periodontitis, Type I diabetes mellitus, Retinopathy |
OMIM:619269 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Recurrent respiratory infections, Recurrent urinary tract infections, Decreased res... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Recurrent respiratory infections, Recurrent urinary tract infections, Decreased res... |
ORPHA:363958 |
| Progeroid Short Stature With Pigmented Nevi |
|
Recurrent viral infections, Diabetes mellitus, Impaired T cell function, Delayed puberty |
OMIM:176690 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Recurrent otitis media, Obesity |
OMIM:250420 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Abdominal pain, Hyperglycemia, Exo... |
OMIM:609812 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Failure to thrive, Highly arched eyebrow, Periventricular heterotopia, High, narrow... |
ORPHA:75857 |
| Webb-Dattani Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... |
OMIM:615926 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacr... |
OMIM:106300 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, L... |
OMIM:619321 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Supranuclear Palsy, Progressive, 2 |
|
Gliosis |
OMIM:609454 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Distal symphalangism, Truncal obesity, Type II diabetes mellitus, Limited elbo... |
OMIM:210720 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Kaposi Sarcoma, Susceptibility To |
|
Kaposi's sarcoma, Neoplasm |
OMIM:148000 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Broad-based gait, Hypothermia, Abnormality of the endocrine system, Cry... |
ORPHA:438213 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Increased muscle lipid conten... |
ORPHA:228302 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Decreas... |
ORPHA:83617 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Cryptorchidism, Abnormality of skele... |
ORPHA:168572 |
| Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
| Trigeminal Neuralgia |
|
Allodynia, Depression |
ORPHA:221091 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n... |
OMIM:601803 |
| Monosomy 22Q13.3 |
|
Nausea and vomiting, Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Feeding dif... |
ORPHA:48652 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Acute Transverse Myelitis |
|
Invasive parasitic infection, Abscess, Severe viral infection, Disseminated nontuberculous mycoba... |
ORPHA:139417 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Cholecystitis |
ORPHA:309256 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity |
ORPHA:319675 |
| Leptospirosis |
|
Pericarditis, Skin rash, Hepatitis, Uveitis, Hyperproteinemia, Optic neuritis, Meningitis, Thromb... |
ORPHA:509 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation,... |
ORPHA:293948 |
| Dend Syndrome |
|
Hyperglycemia, Vomiting, Elevated hemoglobin A1c |
ORPHA:79134 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Meningitis |
ORPHA:91351 |
| Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormality of joint mobility |
ORPHA:314621 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Foot joint contracture, Abnormal midbrain mo... |
ORPHA:444072 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Ankylosis, Flexion contr... |
OMIM:616503 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Recurrent infec... |
ORPHA:500150 |
| Pmm2-Cdg |
|
Osteopenia, Fever, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elev... |
ORPHA:79318 |
| Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness |
OMIM:608328 |
| Sacral Defect With Anterior Meningocele |
|
Meningitis, Rectal abscess |
OMIM:600145 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Allodynia |
ORPHA:137596 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Protruding tongue, Cryptorchidism, Paroxysmal bursts of laughter, Optic atrophy, O... |
OMIM:309580 |
| Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:605822 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Aspartylglucosaminuria |
|
Recurrent respiratory infections, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bon... |
ORPHA:93 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior |
ORPHA:314647 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Mend Syndrome |
|
Abnormal social behavior, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol |
ORPHA:401973 |
| Hydranencephaly |
|
Meningitis |
ORPHA:2177 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Flexion contracture, Recurrent infections, Decreased circulating antibody level, Recurr... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Recurrent infections, Decreased circulating antibody level, Recurr... |
ORPHA:261552 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Arteriovenous Malformations Of The Brain |
|
|
OMIM:108010 |
