| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Gilles De La Tourette Syndrome |
|
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... |
OMIM:137580 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hereditary Mixed Polyposis Syndrome |
|
Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... |
ORPHA:157794 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
| Attenuated Familial Adenomatous Polyposis |
|
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... |
ORPHA:220460 |
| Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... |
OMIM:276300 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... |
ORPHA:447877 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, ... |
ORPHA:247798 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... |
OMIM:300635 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circula... |
OMIM:619281 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... |
OMIM:613101 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... |
ORPHA:79501 |
| Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Bowel urgency, Hepatomegaly, Ovarian neoplasm, Midgut malrotation, Abdominal colic, Hyp... |
ORPHA:100079 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... |
OMIM:618969 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Lymph... |
OMIM:615897 |
| Primary Sclerosing Cholangitis |
|
Adenocarcinoma of the large intestine, Cholestasis, Ascites, Acute hepatic failure, Splenomegaly,... |
ORPHA:171 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... |
OMIM:615767 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... |
OMIM:617006 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Chronic diarr... |
OMIM:618394 |
| Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Spl... |
OMIM:619164 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia |
OMIM:619398 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Chronic diarrhea, Complete or near-co... |
OMIM:607271 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, At... |
OMIM:617638 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... |
OMIM:240500 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... |
OMIM:614700 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... |
OMIM:300853 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal pain, Decr... |
OMIM:619802 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Feeding difficulties in infancy, Enterocoliti... |
OMIM:616050 |
| Mantle Cell Lymphoma |
|
Anorexia, Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly, Weight loss, ... |
ORPHA:52416 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... |
OMIM:618108 |
| Alpha-Heavy Chain Disease |
|
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Lymphoma, Ascites, S... |
ORPHA:100025 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Decreased liver function, Skin rash, Splenomegaly, Abnormality of tumo... |
ORPHA:540 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acne, Thrombocytosis... |
OMIM:604416 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multiple enchondr... |
OMIM:620189 |
| Immunodeficiency 104 |
|
Hepatomegaly, Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastro... |
OMIM:608971 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... |
ORPHA:98813 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Cleft soft palate, Normoc... |
ORPHA:124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
| Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... |
OMIM:243150 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... |
ORPHA:397596 |
| Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Abdominal pain, Neoplasm... |
ORPHA:424016 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Decreased lympho... |
ORPHA:911 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... |
OMIM:618534 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Colitis, Chronic mucocutaneous candidiasis, C... |
OMIM:209920 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin... |
ORPHA:3261 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... |
ORPHA:454840 |
| Monocyte Chemotactic Disorder |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:252250 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:620282 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... |
OMIM:607594 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Colitis |
ORPHA:88643 |
| Familial Adenomatous Polyposis 3 |
|
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... |
OMIM:616415 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Anemia, Diarrhea, Abdominal pain, Failure to thrive, Co... |
OMIM:174900 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Abdominal pain, Ascites,... |
ORPHA:26790 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... |
ORPHA:247806 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Fa... |
OMIM:615285 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea |
OMIM:616868 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc... |
OMIM:614470 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Crohn's disease, Arthritis,... |
OMIM:616100 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Immunodeficiency 52 |
|
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... |
OMIM:617514 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Chronic or... |
OMIM:616433 |
| Muir-Torre Syndrome |
|
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... |
OMIM:158320 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... |
OMIM:619220 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... |
OMIM:266600 |
| Thymoma |
|
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Glomerulonephritis, Neoplasm o... |
ORPHA:99867 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... |
ORPHA:158057 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi... |
OMIM:615190 |
| Immunodeficiency 115 With Autoinflammation |
|
Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody ... |
OMIM:620632 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... |
OMIM:308230 |
| Familial Adenomatous Polyposis |
|
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... |
ORPHA:733 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis |
OMIM:613148 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Enterocolitis, Vomiting, Abdominal pain |
OMIM:260005 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis |
OMIM:616744 |
| Immunodeficiency 27A |
|
Anorexia, Anemia, Lymphadenopathy, Increased circulating IgG level, Diarrhea, Salmonella osteomye... |
OMIM:209950 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly, Myelodysplasia |
OMIM:162830 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Chronic diarrhea, ... |
OMIM:614699 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal int... |
OMIM:619079 |
| Immunodeficiency 48 |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... |
OMIM:269840 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Diarrhea, B lymphocytopenia, Increased circulating IgE level, Lack of T c... |
ORPHA:277 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D... |
OMIM:614878 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Increased circulating antibody level, Sclerosin... |
ORPHA:2137 |
| Familial Adenomatous Polyposis 1 |
|
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... |
OMIM:175100 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Acute pa... |
OMIM:618935 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Thrombo... |
OMIM:301074 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... |
OMIM:142623 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Chronic diarrhea, Seborrheic dermatitis, Dec... |
OMIM:618131 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ... |
OMIM:618213 |
| Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Increased circulating interleukin 6 concentration, Hemoph... |
ORPHA:158061 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... |
OMIM:308240 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... |
OMIM:615122 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ... |
OMIM:603909 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int... |
ORPHA:37042 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Failure to thrive,... |
OMIM:614602 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ... |
ORPHA:66661 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ... |
OMIM:619381 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... |
ORPHA:48104 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
| Sweet Syndrome |
|
Acne, Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic ... |
ORPHA:3243 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Feeding difficulties, Increased circula... |
OMIM:615010 |
| Secondary Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... |
ORPHA:95427 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B... |
ORPHA:86893 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... |
OMIM:615559 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... |
OMIM:133180 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... |
OMIM:601859 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... |
ORPHA:2585 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Chr... |
OMIM:614576 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Failure to thrive, Hep... |
OMIM:618963 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine, Renal neoplasm, Bladder neoplasm |
ORPHA:46488 |
| Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:114580 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Increased ci... |
ORPHA:37748 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior |
ORPHA:208441 |
| Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Jaundice, Increased circulating interleukin 6 con... |
ORPHA:90051 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... |
ORPHA:35078 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... |
ORPHA:100024 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... |
OMIM:618495 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema... |
OMIM:600802 |
| Cronkhite-Canada Syndrome |
|
Anorexia, Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Diarrhea, Cachexia, Abdomin... |
ORPHA:2930 |
| Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Coloni... |
OMIM:618999 |
| Colorectal Cancer |
|
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... |
OMIM:114500 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... |
OMIM:612567 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Abdominal pain, Lymphope... |
ORPHA:2686 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, Sclerosing cholangitis, Skin rash, T lymphocytopenia, Sinusitis, Decrea... |
ORPHA:572 |
| Immunodeficiency 84 |
|
Perianal abscess, B-cell lymphoma, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili... |
ORPHA:411696 |
| Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Diarrhea, Abdominal pain, Increased fecal coproporphyrin III:coproporphyr... |
OMIM:121300 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Immunodeficiency 92 |
|
Hepatomegaly, Abnormal B cell proliferation, Thrombocytosis, Sclerosing cholangitis, Decreased pr... |
OMIM:619652 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... |
ORPHA:75564 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Increased circulating ... |
OMIM:620376 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Wolman Disease |
|
Abdominal distention, Hepatomegaly, Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly |
OMIM:620151 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Cirrhosis, Gastritis, Hepatomegaly, Panhypogammaglobulinemia, Colitis, Bloo... |
ORPHA:84064 |
| Shigellosis |
|
Cholestasis, Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic abscess, Nausea, Abd... |
ORPHA:810 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal blood gas level, Pancreatitis, Hypoxe... |
ORPHA:70578 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Failure to thrive, Biliary tract ... |
ORPHA:79301 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia |
OMIM:615593 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Biliary trac... |
ORPHA:2869 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspiration pneumonia, Jaundice, P... |
ORPHA:79124 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Reduced circ... |
OMIM:301220 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Failure to thrive, Splenomegaly, Malabsorption, Neoplasm |
ORPHA:172 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Chronic diarrhea, Increased proportion of transiti... |
OMIM:616005 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Failure to th... |
OMIM:226990 |
| Li-Fraumeni Syndrome |
|
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... |
ORPHA:524 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal intestine morphology, Oropharyngeal squamous cell carcinoma, Lymphopenia, Thyroiditis, H... |
ORPHA:391487 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr... |
OMIM:301000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Decreased circulating IgG level, Cleft palate, Leukopenia, Splenomegaly, Recurrent ... |
OMIM:620210 |
| Wolman Disease |
|
Abdominal distention, Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Esopha... |
ORPHA:75233 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... |
ORPHA:555905 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Pancolitis, B lymphocytopenia, Inflammation of the large intestine, Bone marrow hyp... |
OMIM:620133 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... |
OMIM:619375 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... |
ORPHA:444463 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... |
ORPHA:70475 |
| Classic Hodgkin Lymphoma |
|
Anorexia, Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Poor a... |
ORPHA:391 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties |
OMIM:616809 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis |
OMIM:613490 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Failure to thrive, Bone marrow hypocellularity |
OMIM:301108 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Decreased lymphocyte proliferation in response to mito... |
ORPHA:331206 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... |
ORPHA:178320 |
| Leishmaniasis |
|
Anorexia, Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopen... |
ORPHA:507 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Pneumonia, Lymphadenopathy, Decreased circulating antibody level, Lymphoma,... |
ORPHA:1572 |
| Galactosemia Iii |
|
Jaundice, Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly |
OMIM:230350 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Feeding difficulties, Nausea and vomiting |
ORPHA:79238 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thriv... |
OMIM:612714 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte... |
OMIM:601847 |
| Immunodeficiency 10 |
|
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis med... |
OMIM:612783 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly, Nausea and vomiting,... |
ORPHA:75234 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Diarrhea, Abdominal pain, Bloody di... |
ORPHA:67 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Abdominal pain, Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Chronic diarrhea, Increased circulating IgE level, Megaloblastic anemia, Atopic der... |
OMIM:620603 |
| Gastrointestinal Stromal Tumor |
|
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... |
ORPHA:44890 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Chronic diarrhea, T lymphocyto... |
OMIM:242700 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr... |
OMIM:602450 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... |
ORPHA:231401 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Abdominal pain, Cholestasis, Leukocytosi... |
OMIM:615895 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Colitis |
OMIM:615947 |
| Budd-Chiari Syndrome |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Cirrhosis, Jau... |
ORPHA:131 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreas... |
OMIM:102700 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Abdominal pain, Failure ... |
ORPHA:3260 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... |
OMIM:263300 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... |
ORPHA:3226 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Pancreatitis, Acute colitis, Diarrhea, Abdominal pain, Intestinal perforation, B... |
ORPHA:90038 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... |
OMIM:237800 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... |
OMIM:603552 |
| SĆ©zary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp... |
ORPHA:3162 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter |
OMIM:618718 |
| Primary Myelofibrosis |
|
Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocyt... |
ORPHA:824 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelodysplasia |
ORPHA:721 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocy... |
OMIM:619463 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Impa... |
OMIM:613179 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Arthritis, Skin rash, Inflammation of the large intestine, Palmoplantar pustulosis, Poor ... |
ORPHA:324964 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... |
ORPHA:73263 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Infla... |
OMIM:617718 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... |
ORPHA:98849 |
| Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Increased circulating ... |
OMIM:181000 |
| Pfapa Syndrome |
|
Hepatomegaly, Lymphadenopathy, Arthritis, Abdominal pain, Splenomegaly, Weight loss, Malabsorptio... |
ORPHA:42642 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg... |
ORPHA:545 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Griscelli Syndrome |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Pyloric s... |
ORPHA:381 |
| Li-Fraumeni Syndrome |
|
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... |
OMIM:151623 |
| Cholesteryl Ester Storage Disease |
|
Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati... |
OMIM:278000 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Mastocytosis,... |
ORPHA:98848 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Skin rash, L... |
ORPHA:2584 |
| Hepatoportal Sclerosis |
|
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Anemia, Abnormal liver parenchyma morpholog... |
ORPHA:64743 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... |
OMIM:617388 |
| Familial Pancreatic Carcinoma |
|
Anorexia, Intermittent diarrhea, Jaundice, Lymphadenopathy, Intestinal pseudo-obstruction, Nausea... |
ORPHA:1333 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Increased circulating antibody level, High palate, Eczematoid dermatitis, F... |
OMIM:170100 |
| Harderoporphyria |
|
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Vomiting, Prolonged neonatal jau... |
OMIM:618892 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Portal fibrosis, Failure to thrive, Splenomegaly, Acholic stools |
OMIM:619868 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Abdominal pain, Abnormality of th... |
ORPHA:1414 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Skin ... |
ORPHA:100026 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Chronic diarrhea, Increased circulating IgA ... |
OMIM:260920 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... |
OMIM:301078 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, D... |
OMIM:607765 |
| Immunodeficiency 42 |
|
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... |
OMIM:616622 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intussusception, Myocarditis, Increased circulating interleukin 6 concentration, Abdominal pain, ... |
ORPHA:544482 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Abdominal pain, Splenic infarction, Persistence of... |
ORPHA:251380 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Diarrhea, Failure to thrive, Splen... |
OMIM:235555 |
| Felty Syndrome |
|
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph... |
ORPHA:47612 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Hepatomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastroin... |
OMIM:613489 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Episodic vomiting, Gastroesophageal reflux, Periportal fibrosis, Necrotizing entero... |
OMIM:201475 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Diarrhea, B lymphocytop... |
OMIM:150550 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Abdominal pain, Splenomegaly, Microcytic an... |
OMIM:618852 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In... |
ORPHA:562639 |
| Esophagitis, Eosinophilic, 1 |
|
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia |
OMIM:613412 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Poor appetite, Thromb... |
ORPHA:521 |
| Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod... |
OMIM:211600 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... |
OMIM:620565 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Thyroiditis, Decreased... |
ORPHA:83471 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... |
OMIM:615387 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| American Trypanosomiasis |
|
Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Diarrhea, Abdominal pain, Skin... |
ORPHA:3386 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Recurrent aphthous stomatitis, Abdominal pain, Skin rash, Arthritis, Leukocytosi... |
OMIM:611762 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Gastroesophageal reflux, Ascites, Splenomegaly, Cyanosis |
ORPHA:2414 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Ascites, Hodgkin lymphoma, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, ... |
OMIM:619573 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Chronic otitis media, Chronic diarrhea, Abnormal platelet function, Sinusitis, Hemat... |
ORPHA:906 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Hepatomegaly, Anemia, Pancreatitis, Abdominal pain, Failure to thrive, Thrombocytopenia... |
ORPHA:79312 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... |
OMIM:613960 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Thyroiditis, Abnormal lymphocyte morphol... |
ORPHA:39041 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... |
ORPHA:480536 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Protein-losing enteropathy, Impaired lymph... |
OMIM:614162 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Panniculitis, Myosit... |
OMIM:617591 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux |
OMIM:109350 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly, Hepatic failure |
ORPHA:664 |
| Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal cha... |
ORPHA:1830 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Diarrhea, Ductal bile p... |
OMIM:613812 |
| Gaucher Disease Type 1 |
|
Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopenia, ... |
ORPHA:77259 |
| Caroli Disease |
|
Cholestasis, Ascites, Biliary cirrhosis, Splenomegaly, Anorexia, Jaundice, Intrahepatic cholestas... |
ORPHA:53035 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Hepatomegaly, Recurrent otitis media, Decreased circulating antibody l... |
OMIM:605309 |
| Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count... |
OMIM:609981 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Feeding difficulties |
OMIM:615085 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Anemia, Squamous cell carcinoma, Periodontitis, Esophagitis, Inflammation of the large... |
ORPHA:2908 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large ... |
OMIM:232220 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Steatorrhea, Iron deficiency anemia, Diarrhea, Abdominal pain, Exocrine pan... |
ORPHA:309031 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Chronic diarrhea, Portal hypertension, Feedi... |
OMIM:613385 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... |
OMIM:615688 |
| Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endometrial carcinoma, Adenomatous co... |
OMIM:613244 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Decreased circulating antibody level, Leukocytosis |
OMIM:618042 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Abdominal pain, Portal hypertension, Biliary h... |
ORPHA:567983 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular adenoma, Enlarged kidney, Anemia, Pancreatitis, Hepatomegaly, Increased hepatic gl... |
ORPHA:79259 |
| Brucellosis |
|
Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Anorexia, Myocarditis, Increased circul... |
ORPHA:1304 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... |
OMIM:620367 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... |
OMIM:300972 |
| Graves Disease |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... |
OMIM:233710 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Diarrhea, Impaired T cell function, Failure to thrive, Poor appetite, Splenomegaly |
OMIM:201100 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Sapho Syndrome |
|
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Neoplasm of the skeletal sys... |
ORPHA:793 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
| Primary Biliary Cholangitis |
|
Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Jaundice, Cirrhosis, Abnormal i... |
ORPHA:186 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Plague |
|
Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras... |
ORPHA:707 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ... |
OMIM:233690 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Acne, Cachexia, Leukocytosis, Synovitis, Failure to ... |
ORPHA:77297 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... |
ORPHA:449291 |
| Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Hematochezia, Abdominal pain, Colitis |
OMIM:203300 |
| Poems Syndrome |
|
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Visceromegaly, Ascites, Hema... |
ORPHA:2905 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... |
OMIM:612840 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Inflammatory abnormality of the eye, Tr... |
ORPHA:379 |
| Immunodeficiency 96 |
|
Defective T cell proliferation, Recurrent otitis media, Increased mean corpuscular volume, Increa... |
OMIM:619774 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Arthritis, Increased body weight, Hep... |
ORPHA:905 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Cutaneous leiomyoma, High palate, Necrotizing enterocolitis, Ascites, F... |
OMIM:606812 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Erythroderma, Hypoplasia of t... |
OMIM:603554 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... |
OMIM:616860 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Polycythemia Vera |
|
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Leukocytosis, Portal h... |
ORPHA:729 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... |
OMIM:235700 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... |
OMIM:614350 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Pyloric stenosis, Failure to thrive, Constipation, Recurrent pneumonia, Splenomegal... |
OMIM:613327 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ... |
OMIM:619849 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Skin rash, Arthritis, Leukocy... |
ORPHA:829 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carci... |
ORPHA:231222 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, G... |
OMIM:608233 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Nausea and vomiting, Hemolytic anemia |
ORPHA:56425 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... |
OMIM:613470 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis |
OMIM:612591 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... |
OMIM:616278 |
| Waldenstrƶm Macroglobulinemia |
|
Anorexia, Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea... |
ORPHA:33226 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension |
OMIM:616589 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Diarrhea, Portal in... |
OMIM:602347 |
| Tafro Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Anemia, Lymphadenopathy, Leukocy... |
ORPHA:457077 |
| Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Diarrhea, Decreased mean corpuscular hemoglob... |
ORPHA:231226 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Skin rash, Failu... |
OMIM:603553 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Diarrhea, Esophageal va... |
ORPHA:264580 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... |
OMIM:613673 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... |
OMIM:224120 |
| Carney Triad |
|
Anorexia, Gastrointestinal hemorrhage, Anemia, Leiomyosarcoma, Mediastinal lymphadenopathy, Lymph... |
ORPHA:139411 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... |
OMIM:266200 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G... |
ORPHA:809 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Increased circulating antibody level, Skin rash, Chilblains, Hematochezia, Splenomeg... |
OMIM:615846 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Lymphopenia, Bronchiectasis... |
OMIM:619708 |
| Q Fever |
|
Anorexia, Myocarditis, Pneumonia, Hepatomegaly, Anemia, Increased circulating antibody level, Lym... |
ORPHA:781 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Panniculitis, Pancytope... |
OMIM:618398 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar... |
OMIM:232240 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... |
OMIM:106300 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Diarrhea, ... |
ORPHA:231214 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Abdominal pain, Pericarditis, Splenomegaly, ... |
ORPHA:85414 |
| Visceral Myopathy 1 |
|
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... |
OMIM:155310 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Ascites, Lympha... |
OMIM:306400 |
| Multiple Myeloma |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Functional abnormality of the gastroint... |
ORPHA:29073 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Diarrhea, Crohn's disease, Abdominal pain, Arthritis, Leukocytosis, Episodic abdomi... |
OMIM:249100 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Ductal bile plugs, Ch... |
OMIM:617394 |
| Adams-Oliver Syndrome 5 |
|
Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Cavernous ... |
OMIM:616028 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Pn... |
ORPHA:169090 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Inflammation of the large int... |
ORPHA:29207 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Diarrhea, Pancreatic islet c... |
OMIM:131100 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Lipoma, Pituitary growth hor... |
ORPHA:913 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Lymphadenopathy, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis... |
ORPHA:32960 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Abdominal pain, Splenic infarction, Leukocytosis, Hypoxem... |
OMIM:603903 |
| Isolated Biliary Atresia |
|
Decreased liver function, Cirrhosis, Severe failure to thrive, Jaundice, Hepatomegaly, Periportal... |
ORPHA:30391 |
| Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Jaundice, Abnormality of the pancreas, Cirrhosis, Hepatomegaly, Decreased c... |
OMIM:222470 |
| Hereditary Spherocytosis |
|
Abdominal distention, Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crise... |
ORPHA:822 |
| Myelofibrosis |
|
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... |
OMIM:254450 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Abdominal pain,... |
OMIM:210250 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Vici Syndrome |
|
Chronic mucocutaneous candidiasis, High palate, Cutaneous anergy, Median cleft palate, T lymphocy... |
OMIM:242840 |
| Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Gastroesophageal reflux, Failure to thrive, Thrombocytopenia, Splenomegaly,... |
OMIM:230900 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Skin rash, Ascites, Pericarditis, Acute hepatic failure, Splenomegaly, Na... |
ORPHA:342 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Abdominal pain, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poik... |
OMIM:300908 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Abdominal pain, Splenomegaly, We... |
ORPHA:33577 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Failure to thr... |
OMIM:612132 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis, ... |
ORPHA:71493 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... |
OMIM:194380 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Cardio... |
OMIM:256040 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Inflammation of the large intestine, Obesity, Osteomyelitis, Neoplas... |
ORPHA:70591 |
| Spherocytosis, Type 2 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Cocaine Intoxication |
|
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... |
ORPHA:90068 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... |
OMIM:208540 |
| Spherocytosis, Type 4 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... |
ORPHA:85436 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome... |
ORPHA:731 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, High palate, Hypoplas... |
OMIM:612541 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Enlarged kidney, Anemia, Melena, Episodic vomiting, Cirrhosis, Hepat... |
OMIM:276700 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Hardikar Syndrome |
|
Hematemesis, Decreased liver function, Bilateral cleft palate, Intrahepatic bile duct dilatation,... |
OMIM:301068 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... |
OMIM:153670 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... |
OMIM:185000 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... |
OMIM:612301 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte... |
OMIM:263200 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... |
ORPHA:158048 |
| Mednik Syndrome |
|
Cirrhosis, Diarrhea, Cholestasis, Microcolon, Volvulus, Hepatic fibrosis, Jejunal atresia |
OMIM:609313 |
| Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Hepatomegaly, Abdominal pain, Microcolon, Constipation, Splenomegaly, Ileus |
ORPHA:163746 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
| Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Abdominal pain, Reticulocytosis, Poikilocytosis, Prolonged neonatal jau... |
ORPHA:288 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Seborrheic dermatitis, Bowe... |
ORPHA:567 |
| Interstitial Cystitis |
|
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation |
ORPHA:37202 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Vomiting, Esophageal ulceration, Allergic conjunctivitis, Small for ges... |
OMIM:176690 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Nausea and vomiting, Cholecysti... |
ORPHA:99827 |
| Kikuchi-Fujimoto Disease |
|
Anorexia, Myocarditis, Abnormality of the gastrointestinal tract, Neutropenia, Anemia, Hepatomega... |
ORPHA:50918 |
| Gist-Plus Syndrome |
|
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor |
OMIM:175510 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati... |
ORPHA:2241 |
| Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col... |
OMIM:617137 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... |
ORPHA:99413 |
| Turner Syndrome |
|
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, High, narrow palate, Cirrhosis, Recurre... |
ORPHA:99226 |
| Beckwith-Wiedemann Syndrome |
|
Rhabdomyosarcoma, Enlarged kidney, Large intestinal polyposis, Splenomegaly, Neoplasm, Cardiomega... |
ORPHA:116 |
| Congenital Erythropoietic Porphyria |
|
Squamous cell carcinoma, Increased fecal coproporphyrin 1, Neoplasm of the skin, Keratoconjunctiv... |
ORPHA:79277 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Digeorge Syndrome |
|
High, narrow palate, Recurrent otitis media, Anemia, Acne, Gastroesophageal reflux, Cholelithiasi... |
OMIM:188400 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Hepatic failure, Portal hypertension, Microcolon |
OMIM:619431 |
| Elliptocytosis 1 |
|
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Steatorrhea, Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis,... |
OMIM:613471 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Acute pancreatitis, Episodic abdominal pain, Vomiting, Nausea, Hepatosplenomegaly, Sple... |
OMIM:238600 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased liver function, Cirrhosis, Hepatomegaly, Abnormal blood gas level, Cholelithiasis, Acut... |
ORPHA:77293 |
| Bardet-Biedl Syndrome |
|
Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the gastrointestinal tract... |
ORPHA:110 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Cleft hard palate, Recurrent otitis media, Decreased circulating antibody ... |
ORPHA:2152 |
| Meconium Ileus |
|
Chronic diarrhea, Meconium ileus, Microcolon |
OMIM:614665 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, Impaired T cell function |
OMIM:192430 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate |
ORPHA:2237 |
