Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Recurr... |
OMIM:269840 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
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 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... |
OMIM:613501 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... |
ORPHA:98813 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
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 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Feeding difficulti... |
OMIM:617241 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Diarrhea, Increased circulating IgE level, Recurrent upper... |
ORPHA:277 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent c... |
ORPHA:169160 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... |
ORPHA:331235 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Chronic diarr... |
OMIM:619510 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... |
ORPHA:911 |
Immunodeficiency 15B |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurren... |
OMIM:615592 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... |
OMIM:615767 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of... |
OMIM:607594 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Decrease... |
OMIM:615607 |
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 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... |
OMIM:618459 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Perianal abscess, Diarrhea, Decreased circulating an... |
OMIM:618108 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 104 |
|
Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Ly... |
OMIM:608971 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... |
OMIM:614069 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... |
ORPHA:572 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Grow... |
ORPHA:169079 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di... |
OMIM:619281 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, B lymphocytopenia, F... |
OMIM:601457 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
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 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Histiocytosis, Familial Lipochrome |
|
Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo... |
OMIM:618982 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Short stature, Persistent CMV viremia, Splenomegaly, Chronic dia... |
OMIM:616005 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... |
OMIM:618969 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Ly... |
OMIM:240500 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... |
OMIM:616636 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thro... |
OMIM:616100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Recurrent infecti... |
OMIM:615285 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytop... |
OMIM:619164 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Chro... |
OMIM:616740 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Malabsorption, Diarrhea, Sepsis, De... |
ORPHA:33355 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia |
OMIM:610798 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... |
OMIM:615617 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... |
ORPHA:83471 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Malabsorptio... |
OMIM:209920 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... |
OMIM:617765 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Severe cytom... |
OMIM:617638 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Chronic diarrhea, Recurrent pneumonia, Eosinop... |
OMIM:616433 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Chronic... |
OMIM:242700 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative coli... |
OMIM:618394 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Decreased circulating antibody level, Hepatosplenomegaly, Recu... |
OMIM:618261 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... |
OMIM:620210 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, D... |
OMIM:229050 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Sepsis,... |
ORPHA:319218 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Short stature, Ataxia, Abdominal pain, Celiac disease, Postnatal gro... |
OMIM:212750 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Immunodeficiency 22 |
|
Abscess, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Anemia, Dec... |
OMIM:615758 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Dysgammaglobulinemia, Malabsorption, Abdominal pai... |
ORPHA:100025 |
Wolman Disease |
|
Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnutrition, Es... |
ORPHA:75233 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... |
OMIM:602450 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, Chronic diarrhea, BCGosis, Decreased... |
OMIM:619652 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Reduced natural killer cell activity, Feeding diffi... |
OMIM:616050 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Growth delay, Decreased circul... |
OMIM:619774 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Increased ci... |
OMIM:209950 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... |
OMIM:615214 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... |
OMIM:300755 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Leukocytosis, Decreased circulating ant... |
OMIM:243150 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Trachyonychia, Decreased response to... |
OMIM:615577 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Short stature, Slow-growing hair, Sparse eyebrow, Chronic decreas... |
OMIM:300953 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... |
OMIM:226300 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Inflammation of the lar... |
OMIM:614700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Malabsorption, Protruding tongue, Diarrhea, Macroglossia, T lymphocytopenia, Incre... |
OMIM:242860 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... |
OMIM:608106 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... |
ORPHA:90045 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... |
OMIM:601495 |
Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipati... |
ORPHA:95713 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr... |
OMIM:619705 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Short stature, Decrease... |
OMIM:307200 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... |
ORPHA:79124 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... |
ORPHA:443811 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
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, Chronic diarrh... |
OMIM:102700 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Nail dystrophy, Abnormally low T... |
OMIM:618806 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Decreased specific pneumococ... |
OMIM:617006 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali... |
ORPHA:2585 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... |
OMIM:613662 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating ant... |
ORPHA:397596 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... |
OMIM:614470 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... |
ORPHA:2643 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... |
OMIM:615190 |
Immunodeficiency 31C |
|
Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ... |
OMIM:614162 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Abdominal pain... |
ORPHA:90362 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Impaired T cell function, Abnormality of thyroid physiology, Abnormal lymphocyte p... |
ORPHA:1830 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Anorexia, Malabsorption, Abdomina... |
ORPHA:2930 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis |
ORPHA:313906 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Decreased circulati... |
ORPHA:1006 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Chronic diarrhea... |
OMIM:618523 |
Ataxia-Telangiectasia |
|
Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG level, Sh... |
OMIM:208900 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Alopecia, Re... |
OMIM:616576 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... |
ORPHA:51890 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decre... |
OMIM:275350 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Disproporti... |
OMIM:242900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdo... |
ORPHA:436252 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Ataxia, Recurrent ear infections, Decreased ... |
ORPHA:221139 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lym... |
OMIM:603909 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Eosinophilia, Increased circulating IgE level, Recurr... |
OMIM:618282 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Boutonneuse Fever |
|
Abdominal pain, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circul... |
ORPHA:83313 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Malabsorption, Diarrhea, Sepsis, Recurrent infections, Agammagl... |
ORPHA:33110 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe in... |
OMIM:304790 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre... |
OMIM:618048 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Decreased circulating antibody level, Growth delay, Feeding difficulties, Intraute... |
OMIM:617744 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Decreased... |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Cryptorchidism, Anemia, Protein-losing enteropathy, Vomiting, Dec... |
OMIM:608104 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating IgE level, Recurrent upper respiratory tra... |
OMIM:619752 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... |
OMIM:193670 |
Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Growth delay, Sparse hair |
OMIM:246500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Abdominal pain, Leukocytosis, Chronic diarrhea, Di... |
OMIM:617099 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Synophrys, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG leve... |
OMIM:300861 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Short stature, Abnormali... |
ORPHA:229717 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Microcytic anemia, Feedi... |
OMIM:257200 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Malabsorption, Abnormal hair morphology, Intestinal lymphangiectasia, Decreased circ... |
OMIM:152800 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Impaired T cell function, Poor appetite, Ataxia, Splenomegaly, Diarrhea, Paronychi... |
OMIM:201100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Alopecia, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:93552 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, BCGosis, Hepatosplenomegaly, Thrombocytosis, ... |
OMIM:618963 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... |
ORPHA:100924 |
Lead Poisoning |
|
Anorexia, Abdominal pain, Abdominal distention, Increased circulating IgE level, Imbalanced hemog... |
ORPHA:330015 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Short stature, Malabsorption, Thrombocytopenia, ... |
ORPHA:47 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia, Malabsorption |
ORPHA:1116 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... |
ORPHA:2688 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... |
ORPHA:401911 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Inability to walk, Gait ataxia... |
DECIPHER:45 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level... |
OMIM:618116 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased liver function, Dec... |
OMIM:301045 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi... |
OMIM:616395 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat... |
OMIM:300635 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody level, Neoplasm of the... |
ORPHA:90003 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomi... |
ORPHA:391673 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Alopecia, Short stature, Sparse eyelashes, Recurrent infections, Decre... |
OMIM:620040 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Celiac disease, Postnatal growth retardation, Increased circulating IgE level, Thy... |
OMIM:618985 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Susceptibility to chickenpox, Neutropenia, Sparse hair, Neonatal short-limb s... |
OMIM:250250 |
Bloom Syndrome |
|
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Paronychia, Gastroesophageal ... |
ORPHA:125 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocytosis, Chroni... |
OMIM:260920 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Recurrent respiratory infections, Increased circulating IgA level,... |
OMIM:615934 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... |
ORPHA:90051 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Long eyelashe... |
OMIM:616069 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Ataxia, Decreased circ... |
ORPHA:100 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Celiac disease, Recurren... |
OMIM:615952 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Angiostrongyliasis |
|
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... |
ORPHA:74 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Thyroid Hemiagenesis |
|
Growth delay, Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d... |
ORPHA:3363 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... |
ORPHA:209964 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Throm... |
OMIM:603554 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Short stature, Ataxia, Abnormality of neutrophils, Abnormal eyelash ... |
ORPHA:381 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Sparse hair, Nail dystrophy, Recurren... |
OMIM:618625 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Decreased response to growth hormone stimulation test, Long eyebr... |
OMIM:275400 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Ataxia, Abscess, Eosinophilia, Recurrent stap... |
OMIM:615816 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism, High, narrow palate, Abdominal distention, Recurrent infections, Chronic constipa... |
ORPHA:3010 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Aut... |
ORPHA:391487 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... |
OMIM:619767 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
Complement Component 4B Deficiency |
|
Decreased circulating complement C4b concentration, Chronic diarrhea, Recurrent pneumonia, Recurr... |
OMIM:614379 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow |
OMIM:606242 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Immunodeficiency 12 |
|
Short stature, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte co... |
OMIM:615468 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Curly hair, Cryptorchidism, Gait disturbance, Protuberant abdomen, Intestina... |
ORPHA:457485 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Recurrent respiratory infections, Severe short stature, Short stature, Abdominal distention, Disp... |
OMIM:277300 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Severe infection, Choreoathetosis, Increased circulating IgG level, Steppage gait, ... |
ORPHA:206594 |
Cog7-Cdg |
|
Postnatal growth retardation, Diarrhea, Feeding difficulties, Recurrent infections, Hepatosplenom... |
ORPHA:79333 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... |
ORPHA:388 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Hirsutism, Sepsis, Anemia, Recurrent ba... |
OMIM:617475 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Feeding difficulties, Ataxia, Intermittent diarrhea |
OMIM:620270 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Macroglossia, C... |
ORPHA:226313 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Ataxia, Thick hair, Recurrent upper respiratory ... |
ORPHA:263501 |
Roifman Syndrome |
|
Short stature, Eosinophilia, Hyperconvex nail, Postnatal growth retardation, Recurrent pneumonia,... |
ORPHA:353298 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Dia... |
OMIM:278000 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Increased circulatin... |
ORPHA:343 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... |
ORPHA:83469 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto... |
ORPHA:2070 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... |
OMIM:241600 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Inability to walk,... |
ORPHA:508533 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Woolly hair, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Abdominal distention, Recurrent infections, Growth delay, Gastroesophageal refl... |
OMIM:256300 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Short stature, Ataxia, Fluctuating splenomegaly, Leukocytosis, Dia... |
OMIM:610377 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... |
OMIM:618131 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Ataxia, Esophageal varix, Growth delay, Premature gray... |
OMIM:617341 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma... |
ORPHA:84064 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Sepsis, Iron deficiency anemia, Colitis, Vomiting, Neutropenia, Hypothyroidis... |
ORPHA:37042 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Meningitis, Abnormal propor... |
ORPHA:217260 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Acrocephalopolydactyly |
|
Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Chylomicron Retention Disease |
|
Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsor... |
ORPHA:71 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Short stature, Trichoschisis, Malabsorption, Chronic diarrh... |
OMIM:601675 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Decreased... |
OMIM:613070 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Hepatocellular carcinoma, Abdominal distention, Growth delay, Delayed puberty |
ORPHA:369 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor... |
OMIM:612260 |
Donohue Syndrome |
|
Postnatal growth retardation, Abdominal distention, Recurrent infections, Ovarian cyst, Pancreati... |
OMIM:246200 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... |
OMIM:609981 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, BCGitis, Recurrent in... |
OMIM:226990 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Short stature, Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, Recurrent urinar... |
OMIM:251260 |
Legionnaires Disease |
|
Nausea and vomiting, Ataxia, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Recurrent pharyngi... |
ORPHA:549 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Leukocytosis, Chronic diarrhea, Mediastinal lymphadenopathy, Gastroesophage... |
OMIM:620233 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Chronic diarrhea, Premature g... |
OMIM:613989 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Hypothyroidism, Th... |
ORPHA:95720 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Ataxia, Impaired T cell function... |
OMIM:613179 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Abscess, Perianal abscess, Spl... |
OMIM:618935 |
Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Brittle hair, Sparse scalp hair, Brittle scalp... |
OMIM:256500 |
Rapadilino Syndrome |
|
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Diarrhea... |
OMIM:266280 |
Vici Syndrome |
|
Recurrent viral infections, Albinism, Leukopenia, T lymphocytopenia, High palate, Neutropenia, De... |
OMIM:242840 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Diarrhea, Recurrent inf... |
OMIM:617827 |
Omenn Syndrome |
|
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Sepsis, Lympha... |
ORPHA:39041 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Abdominal pa... |
ORPHA:822 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Ataxia, Thick hair, Splenomegaly, Chronic diarrhea, Feeding dif... |
OMIM:613489 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting |
OMIM:606528 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... |
ORPHA:160 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Severe short stature, Difficulty walking |
OMIM:619345 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Esophageal varix, Decreas... |
OMIM:614576 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Howell-Jolly bodies, Gast... |
ORPHA:85443 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Paronychia, Increased circulating IgE level, Bloody diarrhea, Onycho... |
OMIM:614328 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Growth delay, Granul... |
OMIM:619858 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking |
ORPHA:79097 |
Icf Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Malabsorption, Protr... |
ORPHA:2268 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology |
OMIM:251850 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Cryoglobulinemia, Ataxia, Abnormality of neutroph... |
ORPHA:33226 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... |
ORPHA:3261 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis, Feeding difficulties, Fine hair, Chronic constipation, Frontal ... |
OMIM:300406 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Lethar... |
ORPHA:99745 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair |
ORPHA:1174 |
Classic Galactosemia |
|
Ataxia, Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Sepsis, Feeding difficulties... |
ORPHA:79239 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Sepsis, Pulmonary tuberculosis, Decreased cir... |
ORPHA:183675 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
Congenital Toxoplasmosis |
|
Diarrhea, Lymphadenopathy, Anemia, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:858 |
Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Short stature, Sparse body hair |
ORPHA:85274 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Hyperhidrosis, Leukopeni... |
ORPHA:2330 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Celiac disease, Abdominal distention, Gastrointestinal inflammat... |
ORPHA:186 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Nail pits, Premature graying of... |
OMIM:127550 |
Gonadoblastoma |
|
Abdominal pain, Abdominal distention, Hirsutism, Ovarian gonadoblastoma, Abnormality of the ovary... |
ORPHA:206484 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Exocrine pancreatic ... |
OMIM:620005 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Low anterior hairline, Abnormal isohemagglutinin level, Chronic lymphocytic me... |
ORPHA:99843 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Increased circulating IgG4 level, Abdominal pain, Increased circulating I... |
ORPHA:449400 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine growth r... |
OMIM:616353 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Alopecia, Malabsorption, Asplenia, Diarrhea, Decreased ci... |
OMIM:240300 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Splenomegaly, Diarrhea, Esophageal varix, Hepatic failure |
ORPHA:75234 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow foam cells, Abdominal pain, Hype... |
ORPHA:275761 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Abdominal pa... |
ORPHA:98849 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... |
ORPHA:309108 |
Mogs-Cdg |
|
Alopecia, Fair hair, Hirsutism, Decreased circulating antibody level, Hepatosplenomegaly, Decreas... |
ORPHA:79330 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Short stature, Gastrostomy tube feeding in infanc... |
OMIM:613385 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Rectal prolapse, Leuko... |
ORPHA:90038 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Short stature, Thrombocytopenia, Esophageal stricture, Chroni... |
OMIM:617053 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ... |
OMIM:266600 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina... |
ORPHA:398063 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea |
OMIM:619971 |
Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Short stature, Cryptorchidism, Intrauterine growth retardation, Sparse... |
ORPHA:261483 |
Letterer-Siwe Disease |
|
Abdominal distention, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Dysphagia |
ORPHA:99824 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, S... |
OMIM:617052 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... |
ORPHA:2251 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Leukopenia, Lethargy,... |
ORPHA:99828 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... |
OMIM:619573 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Intrauterine growth retardat... |
OMIM:615966 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Hypothyroi... |
OMIM:607906 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation, Hyperhidrosis |
OMIM:615548 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Episodic hyperhidrosis, Growth delay, Constipatio... |
ORPHA:469 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Splenomegaly, Abdominal distention, Cryptorchidism, Pancreatic lymp... |
ORPHA:1655 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, L... |
ORPHA:79456 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Chronic diarrhea, Decreased circulating antibo... |
OMIM:300972 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, White hair, Fine hair, Ag... |
ORPHA:935 |
Sézary Syndrome |
|
Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal ... |
ORPHA:3162 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Feeding difficulties, Sparse hair, Neutropenia, Loss of ambulation, Intrauterine growt... |
OMIM:618253 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... |
OMIM:618165 |
Complement Component 5 Deficiency |
|
Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Dec... |
OMIM:609536 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Diarrhea, Vomiting |
ORPHA:30925 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepato... |
OMIM:619644 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Short stature, Long eyebrows, Cryptorchidism, Feedi... |
OMIM:613224 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Acute leukemia, Testicu... |
ORPHA:281090 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis |
OMIM:620137 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, High, narrow palate, Constipation, Cryptorchidism |
OMIM:273390 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Fine hair, Anemia, Premature graying of hair... |
OMIM:612199 |
Sandhoff Disease, Juvenile Form |
|
Ataxia, Diarrhea, Gait disturbance, Constipation, Dysphagia |
ORPHA:309162 |
Sialuria |
|
Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, High palate, Hypoplastic nipples, ... |
OMIM:269921 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrosis, Recurrent respiratory infections, Sparse scalp hair, Splenomegaly, Defective producti... |
OMIM:612132 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circula... |
OMIM:616638 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... |
ORPHA:2575 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Neonatal short-limb short stature |
OMIM:600972 |
Achondrogenesis Type 1A |
|
Abdominal distention, Severe short stature |
ORPHA:93299 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... |
OMIM:256040 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection |
OMIM:618309 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Anal atresia |
OMIM:227260 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Dys... |
OMIM:252930 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, White hair, Hyperhidrosis, Premature graying of ha... |
ORPHA:1775 |
Glycogen Storage Disease Ixb |
|
Growth delay, Splenomegaly, Diarrhea, Short stature |
OMIM:261750 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Hypohidrosis, Fine hair, Sparse... |
OMIM:129490 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Ataxia, Diarrhea, Hyperhidrosis, Gait disturbance |
ORPHA:29822 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Abdominal distention, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, Hi... |
OMIM:235255 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Short stature, Hypochromic microcytic anemia |
OMIM:619423 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Spars... |
OMIM:268130 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary, Hir... |
ORPHA:314478 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Episodic abdominal... |
ORPHA:370348 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... |
OMIM:620133 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Pyloric stenosis, Ileus, Recurrent pneumonia, Feeding difficulties, Recurrent infec... |
OMIM:613327 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Hir... |
OMIM:252920 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Iron deficiency anemia, Colitis, St... |
ORPHA:309031 |
2Q32Q33 Microdeletion Syndrome |
|
Short stature, Cleft palate, Feeding difficulties, Growth delay, Fine hair, High palate, Sparse h... |
ORPHA:251019 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti... |
OMIM:618278 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Recurrent urinary tract infections, Recurrent respiratory infections, Hypop... |
OMIM:619365 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Short stature, Increased mean platelet volume, Splenom... |
OMIM:222470 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Malabsorption, Feeding difficulties in i... |
ORPHA:3260 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Ataxia, Abdominal pain, Recurrent viral infections, D... |
ORPHA:420741 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Lymphaden... |
ORPHA:2221 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Broad-based gait, Alopecia, Short stature, Microcytic anemia, Recurrent... |
ORPHA:2959 |
Filippi Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Sparse hair, Intrauterine growth retardation, Front... |
OMIM:272440 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Rhizomelia, Diarrhea, Severe short-limb dw... |
ORPHA:1842 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Leukocytosis, Gastrointestin... |
ORPHA:67 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair |
ORPHA:2985 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Synophrys, Coarse hair, Hir... |
OMIM:252900 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Growth delay, M... |
OMIM:218700 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate |
OMIM:613885 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Abnormal lymph node morphol... |
ORPHA:54251 |
Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Short stature, Postnatal growth retardation, Feeding difficul... |
OMIM:223370 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Ataxia, Abdominal pain, Splenomegaly, Diarrhea, Lymphadenopathy, Recurrent b... |
ORPHA:36412 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Sparse hair, Short stature, Intestinal malrotation |
ORPHA:2301 |
Glycogen Storage Disease Ib |
|
Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Pancreatitis, Recurre... |
OMIM:232220 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Short stature, Low anterior hairline, Narrow palate, Ovarian neoplasm, Long eyelashes, Ov... |
OMIM:617883 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Incr... |
OMIM:615508 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature |
ORPHA:2574 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Cryptorchidism, Truncal ataxia, Gait ataxia, Growth delay, Fine hair, Delayed pube... |
OMIM:616817 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis,... |
OMIM:158310 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protein-losing enteropathy |
OMIM:277175 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Ataxia, Diarrhea, Feeding difficulties, Anemia, Macrog... |
ORPHA:79325 |
Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
Ovarian Fibroma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary |
ORPHA:314473 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Short stature, Diarrhea, Steatorrhea, Recurrent infections, High palate, Neutr... |
OMIM:617941 |
Obesity Due To Congenital Leptin Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... |
ORPHA:66628 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Hi... |
ORPHA:3051 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature |
OMIM:618724 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... |
OMIM:246700 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Abnorma... |
ORPHA:33276 |
Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous sto... |
OMIM:612782 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Generalized lymphadenopathy, Hematemesis, Thr... |
OMIM:615846 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulce... |
ORPHA:2137 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Chronic diarrhea, Pancreatitis, Microcytic anemia |
OMIM:618805 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Satoyoshi Syndrome |
|
Alopecia, Short stature, Malabsorption, Diarrhea, Alopecia universalis |
OMIM:600705 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Recurrent upper respiratory tract infections,... |
ORPHA:51636 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... |
OMIM:616084 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Ataxia, Feeding difficulties in infancy, Diarrhea, Dysmetria, Vomiting, Steatorr... |
OMIM:212065 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... |
ORPHA:179494 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow |
OMIM:611091 |
Relapsing Fever |
|
Neutrophilia, Abdominal pain, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Thrombocytopenia |
ORPHA:91547 |
Lysinuric Protein Intolerance |
|
Short stature, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatitis, Fine hair, ... |
OMIM:222700 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Splenomegaly, Diarrhea, Thyrotoxicosis with diffuse goiter, Increased circul... |
ORPHA:525731 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal... |
ORPHA:2131 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Short stature, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait dist... |
OMIM:616541 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Severe short stature, Highly arched eyebrow, Synophrys, High ... |
OMIM:616854 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymphadenitis, Lymphadenopathy, Hem... |
OMIM:615895 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Abdominal di... |
ORPHA:300373 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Thyroid Ectopia |
|
Short stature, Abdominal distention, Growth delay, Macroglossia, Constipation, Ectopic thyroid, H... |
ORPHA:95712 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Rec... |
ORPHA:64743 |
Currarino Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal obstruction... |
OMIM:176450 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Let... |
ORPHA:927 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, R... |
OMIM:253220 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Cryptorchidism, Congenital pyloric atresia, Hyperhi... |
ORPHA:2617 |
Avian Influenza |
|
Abdominal pain, Meningitis, Diarrhea, Sepsis, Leukopenia, Vomiting, Lymphopenia, Infectious encep... |
ORPHA:454836 |
Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Thrombocyto... |
ORPHA:449285 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Growth delay, Hyperald... |
OMIM:214700 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Pseudohypoaldosteron... |
OMIM:264350 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Ataxia, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarr... |
ORPHA:3452 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Gallbladder perfor... |
ORPHA:521219 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Recurrent upper respirator... |
OMIM:210900 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Gastroesophageal reflux, Abdominal distention, Feeding difficulties |
OMIM:620275 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardat... |
ORPHA:96180 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Chronic neutropenia, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enterocolitis... |
ORPHA:79259 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Diarrhe... |
ORPHA:3386 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:2850 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ... |
ORPHA:181 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Fe... |
OMIM:607143 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Adiposis Dolorosa |
|
Sparse axillary hair, Sparse pubic hair, Diarrhea, Xerostomia, Constipation, Hypothyroidism |
ORPHA:36397 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, Sever... |
ORPHA:391408 |
Shigellosis |
|
Abscess, Anorexia, Abdominal pain, Intestinal perforation, Thrombocytopenia, Leukocytosis, Perito... |
ORPHA:810 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Anorexia, Abdominal pain... |
ORPHA:99826 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Furrowe... |
ORPHA:1839 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Short stature, High, narrow palate, Cryptorchidism, Abnormal hair whorl, Growth delay, Sparse hai... |
ORPHA:2872 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Gait disturbance, Disproportionate short-trunk short stature, Protuberant abdomen |
OMIM:613330 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Short stature, Ataxia, Poor appetite, Thin nail, Inability to walk, Gastrointestinal ... |
OMIM:617799 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Sepsis, Leukopenia, Protein-losing enteropathy,... |
OMIM:619991 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Cleft palate, Anteriorly placed anus, Growth delay, Sparse hair, Thrombocytopenia |
OMIM:619980 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Autoimmune hemolytic anemia, Diarrhea, Coo... |
ORPHA:90035 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Intestinal pseudo-obstruction, Short stature, Splenomegaly, Diarrhea, Recur... |
OMIM:309900 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Diarrhea, Hepatosplenomegaly, Anemia, Leuk... |
ORPHA:470 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Lethargy, Diarrhea, Anorexia |
ORPHA:178029 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhidrosis, Pseudo... |
ORPHA:79276 |
Rapp-Hodgkin Syndrome |
|
Short stature, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Velopha... |
OMIM:129400 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Recurrent bronchitis, Autoimmune thrombocytop... |
ORPHA:1572 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Anorexia, Malabsorption... |
OMIM:557000 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Recurrent infe... |
OMIM:258360 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Protei... |
ORPHA:79327 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, H... |
OMIM:617718 |
Vitamin D-Dependent Rickets, Type 2A |
|
Growth delay, Difficulty walking, Secondary hyperparathyroidism, Protuberant abdomen, Alopecia un... |
OMIM:277440 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Short stature, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Familial Mediterranean Fever |
|
Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Peritonitis, Episod... |
OMIM:249100 |
Epilepsy-Telangiectasia Syndrome |
|
Short stature, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant abdomen, Dysphag... |
OMIM:230900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Short stature, Postnatal growth retardation, Splenomegaly, Diarrhea, Hepatocellular adenoma, Recu... |
ORPHA:79240 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... |
OMIM:602400 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Anauxetic Dysplasia 2 |
|
Short stature, Macroglossia, Small nail, Nail dysplasia, Sparse hair, Intrauterine growth retarda... |
OMIM:617396 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... |
ORPHA:65682 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Mucopolysaccharidosis, Type Iiid |
|
Thick eyebrow, Short stature, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infection... |
OMIM:252940 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... |
ORPHA:97283 |
Bainbridge-Ropers Syndrome |
|
Thick eyebrow, Intestinal malrotation, Supernumerary nipple, Highly arched eyebrow, Inability to ... |
OMIM:615485 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Hepatosplenomegaly, Gastrointestinal inflammation, Recurrent infections... |
ORPHA:39812 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Diarr... |
OMIM:235400 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepat... |
ORPHA:264580 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow, Feeding difficul... |
ORPHA:261304 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Lethargy |
OMIM:215600 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac disease, Xer... |
ORPHA:227990 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Diarrhea, Episodic abdomin... |
ORPHA:100085 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent upper respiratory tract... |
OMIM:619446 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Prostatitis, Increased circulating IgE level, Xer... |
ORPHA:449432 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Disproportionate short-limb short stature, Cleft palate |
ORPHA:85166 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune hypoparathyroidism, Autoimmune thromb... |
ORPHA:227982 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Increased... |
ORPHA:97280 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Abdominal distention, Cleft palate, Anonychia |
ORPHA:2604 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Slow-growing hair, Sparse eyelashes, Hypohidrosis, Sparse hair, Sparse body hair |
OMIM:618535 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Broad-based gait, Short stature, Ataxia, Reye syndrome-like episodes, Abdo... |
OMIM:256810 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea |
ORPHA:352447 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Gro... |
ORPHA:217346 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Hypoplasia o... |
OMIM:617666 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Short stature, Absent facial hair, High, narrow palate, Low posterior hairline |
ORPHA:2183 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, Cryptorchidism, High, narrow palate, Hyperhidrosis, Lo... |
OMIM:619745 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Ataxia, Thick hair, Malabsorption, Splenomegaly, Synophrys, R... |
ORPHA:581 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Recurrent respiratory in... |
ORPHA:36426 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh... |
ORPHA:324636 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Postnatal growth retardation, Feeding difficulties in infancy, C... |
OMIM:613026 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hypoparathyroidism, Hepatocellular carcinoma, Thrombocyt... |
OMIM:277900 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft palate, Nail dystrophy, Trichodys... |
ORPHA:2890 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Recurrent respiratory infections, Absent nipple, Absent eyebrow, Sparse eyelashes, Sp... |
OMIM:614941 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis |
ORPHA:1810 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97278 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Splenomegaly, Disproportionate short-limb short stature |
OMIM:602557 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Odynophagia, Fulminant hepatitis, Diarrhea, Severe viral infection, Hyperhidrosis, ... |
ORPHA:319213 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Scarring alopecia of scalp, Sp... |
ORPHA:59303 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... |
OMIM:603041 |
Japanese Encephalitis |
|
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Choreoathetosis, Increased circulating IgM leve... |
ORPHA:79139 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Diarrhea, Functional abnormalit... |
ORPHA:221008 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Diarrhea, Abdominal pain |
ORPHA:188 |
Bazex-Dupre-Christol Syndrome |
|
Hypohidrosis, Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... |
OMIM:301845 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Small nail, Nail dysplasia, Bifid uvula |
OMIM:601110 |
Dermoodontodysplasia |
|
Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse... |
ORPHA:1660 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:615280 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Leukopenia... |
ORPHA:974 |
Tetrasomy 12P |
|
Short stature, Abnormal soft palate morphology, Sparse eyebrow, Hypohidrosis, Sparse hair, Anal a... |
ORPHA:884 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Severe short stature, Disproportionate short-limb short stature, Cleft palate |
OMIM:184250 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Recurrent urinary tract infections, Anorexia, Cryptorchidis... |
ORPHA:361 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Disproportionate short stature, Severe short stature, Hepatosplenomegaly |
ORPHA:93352 |
Glutaric Aciduria Iii |
|
Diarrhea, Hyperthyroidism, Vomiting, Goiter |
OMIM:231690 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite, Hematemesis,... |
ORPHA:100075 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abscess, Nausea, Abdominal pain, Severe varicella zoster infe... |
ORPHA:36234 |
Methionine Malabsorption Syndrome |
|
Diarrhea, White hair |
OMIM:250900 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Unsteady gait, Feeding difficulties, Dysphagia |
ORPHA:79101 |
B4Galt1-Cdg |
|
Splenomegaly, Diarrhea, Hypothyroidism |
ORPHA:79332 |
Hurler Syndrome |
|
Recurrent respiratory infections, Short stature, Splenomegaly, Hepatosplenomegaly, Macroglossia, ... |
OMIM:607014 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Adrenal insufficiency, H... |
ORPHA:85445 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Recurrent upper respiratory tract infections, Polycystic ovaries, High palate, Spa... |
ORPHA:284180 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting, Lethargy |
OMIM:253260 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Hypohid... |
OMIM:301220 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Galactosemia I |
|
Hemolytic anemia, Diarrhea, Vomiting, Decreased liver function |
OMIM:230400 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Short stature, Abdominal pain, High, narrow palat... |
ORPHA:79076 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Feeding difficulties in infancy, Decreased circulating antibody level, Long eyelashes, High palat... |
OMIM:606056 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Monoclonal elevation of c... |
ORPHA:91139 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Hypohidrosis, Vomiting, Delayed puberty, Nausea, Anemia |
OMIM:301500 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... |
ORPHA:653 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Hypoplastic toenails, Rectal prolapse, Low anterior hairline, High pa... |
ORPHA:235 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ataxia, Anorexia, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Leukop... |
ORPHA:20 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal... |
ORPHA:95409 |
Rift Valley Fever |
|
Anorexia, Hematemesis, Severe viral infection, Melena, Increased circulating IgG level, Anemia, I... |
ORPHA:319251 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Abdominal pa... |
ORPHA:99829 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in... |
ORPHA:2963 |
Tick-Borne Encephalitis |
|
Anorexia, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating IgG ... |
ORPHA:297 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure |
OMIM:607765 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Dry hair, Short stature, Postnatal growth retardation, Splenome... |
ORPHA:576 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Hyperhidrosis |
OMIM:613576 |
Cutaneous Mastocytoma |
|
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea |
ORPHA:79455 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Sparse body hair, Intrau... |
OMIM:300869 |
Zygomycosis |
|
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Infectious encephalitis, Naus... |
ORPHA:73263 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... |
ORPHA:309256 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... |
OMIM:106100 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Short stature, Hyperconvex nail, Chronic constipation, Gastroesophageal reflux, Sparse hair |
OMIM:619721 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... |
ORPHA:906 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Hyperhidrosis, Lymphadenopathy, Pheochromocytoma, Dysphagi... |
ORPHA:1332 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Anhidrosis, Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... |
OMIM:604536 |
Dpm1-Cdg |
|
Ataxia, High, narrow palate, Diarrhea, Hepatosplenomegaly, Nail dysplasia, Gastrostomy tube feedi... |
ORPHA:79322 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Narrow palate, Acute megakaryocytic leukemia, Macroglos... |
ORPHA:870 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st... |
OMIM:618223 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair |
OMIM:620075 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Growth delay, Difficulty walking, Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... |
ORPHA:342 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficu... |
OMIM:618183 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Ataxia, Abdominal pain, Pilomatrixoma, Diarrhea, Adenomatous colonic polypo... |
ORPHA:99818 |
Melas |
|
Hypoparathyroidism, Short stature, Intestinal pseudo-obstruction, Ataxia, Gastrointestinal dysmot... |
ORPHA:550 |
Polyembryoma |
|
Macroorchidism, Abdominal distention, Abdominal pain |
ORPHA:180229 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Recurrent... |
ORPHA:32960 |
Microsporidiosis |
|
Brain abscess, Anorexia, Abdominal pain, Abnormality of the spleen, Lymphadenitis, Chronic diarrh... |
ORPHA:2552 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... |
ORPHA:29073 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits... |
OMIM:308300 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancrea... |
ORPHA:677 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
Addison Disease |
|
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Hypoparathyroidism,... |
ORPHA:85138 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffus... |
ORPHA:64744 |
Rothmund-Thomson Syndrome |
|
Short stature, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nasogastric t... |
ORPHA:2909 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Bilat... |
ORPHA:3253 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short stature, Protuberant abdomen |
OMIM:617102 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Growth delay, Nail dys... |
OMIM:234050 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Diarrhea, Vomiting, Decreased liver function, Lethargy |
ORPHA:42 |
Okur-Chung Neurodevelopmental Syndrome |
|
Ataxia, Highly arched eyebrow, Protruding tongue, Synophrys, Decreased circulating antibody level... |
OMIM:617062 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis, Anal atresia |
OMIM:119580 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sou... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sou... |
ORPHA:100082 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Athetosis, Sparse hair, Intrauterine growth retardation, Episodic ... |
OMIM:219150 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Decreased circulating total IgA |
ORPHA:1929 |
Brucellosis |
|
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Vomiting, In... |
ORPHA:1304 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Hypochromic microcytic anemia, Growth delay, Vomiting, Thrombocytopenia |
ORPHA:3240 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Growth delay, Macroglossia, Seve... |
OMIM:252500 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Postnatal growth retardation, Difficulty walking, Protuberant abdomen, Secondary h... |
ORPHA:289157 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Leprechaunism |
|
Enlarged ovaries, Postnatal growth retardation, Abdominal distention, Rectal prolapse, Megarectum... |
ORPHA:508 |
Fanconi-Bickel Syndrome |
|
Growth delay, Abdominal distention, Hepatic failure, Hepatocellular carcinoma |
ORPHA:2088 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Diarrhea, Functional abnormalit... |
ORPHA:221016 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Neutropenia, Hypothyroidism, Hypoparathyro... |
ORPHA:699 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Short stature, Slow-growing hair, Feeding difficulties in infancy, Sp... |
OMIM:115150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Fanconi-Bickel Syndrome |
|
Postnatal growth retardation, Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Diarrhea, Malabsorption |
OMIM:600955 |
Desbuquois Syndrome |
|
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... |
ORPHA:1425 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, Gastroesophageal reflux, High palate, Thoracic hypertrichosis, Hypothyroi... |
OMIM:618268 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Diarrhea, Bile duct proliferation, Malabsorption |
OMIM:602347 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G... |
OMIM:617988 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Ataxia, Diarrhea, Gait ataxia, Vomiting, Lethargy, Episodic vomiting |
OMIM:618321 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Short stature, Pyloric stenosis, Gastrointestinal ... |
OMIM:270400 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Ataxia, Inability to walk, Dysmetria, Sparse hair, Hirsutism |
OMIM:618087 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Abdominal distention, Progressive gait ataxia, Difficulty walking, Neoplasm o... |
ORPHA:309271 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T ... |
OMIM:607944 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Postnatal growth retardation, Pyloric stenosis, Biliary hyperplasia, Cr... |
ORPHA:83617 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Erythermalgia, Primary |
|
Hyperhidrosis, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
White-Sutton Syndrome |
|
Waddling gait, Short stature, Cleft palate, Feeding difficulties, Recurrent infections, Gastroeso... |
OMIM:616364 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Poor appetite, Diarrhea, Increased circulating... |
ORPHA:542323 |
Lymphatic Malformation 7 |
|
Abdominal distention, Anemia |
OMIM:617300 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Nail dystrophy, Intestinal... |
ORPHA:79403 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short statu... |
ORPHA:647 |
Trichorhinophalangeal Syndrome, Type I |
|
Recurrent respiratory infections, Short stature, Thin nail, Slow-growing hair, Concave nail, Narr... |
OMIM:190350 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Cleft palate, Hypohidrosis, Spa... |
ORPHA:2316 |
Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia |
ORPHA:1515 |
Crimean-Congo Hemorrhagic Fever |
|
Anorexia, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Neutrophilia, Abdominal pai... |
ORPHA:99827 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Tric... |
ORPHA:95455 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties, Growth delay, Adrenal insufficiency, Letharg... |
ORPHA:427 |
Acrofacial Dysostosis, Palagonia Type |
|
Short stature, Sparse eyelashes, High, narrow palate, Low anterior hairline, Thin eyebrow, Sparse... |
ORPHA:1787 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Glycogen Storage Disease Ia |
|
Short stature, Hepatocellular carcinoma, Growth delay, Protuberant abdomen, Delayed puberty, Inte... |
OMIM:232200 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ep... |
ORPHA:100086 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Feeding difficulties, Pseudohypoaldosteronism, Hyperaldosteronism, Vomiting |
OMIM:177735 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Choreoathetosis, Athetosis, Constipatio... |
OMIM:608643 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Scarring alopecia of scalp, Congenital pyloric atresia, Vomiting, Nail dyst... |
ORPHA:158684 |
Houge-Janssens Syndrome 1 |
|
Gait ataxia, Pyloric stenosis, Chronic diarrhea, Intrauterine growth retardation |
OMIM:616355 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Malabsorption, Poor ... |
ORPHA:37 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Sepsis, Sparse hair, Abnormality of the nail, Ap... |
ORPHA:313 |
Bronchogenic Cyst |
|
Abdominal pain, Chronic infection, Abnormal stomach morphology, Dysphagia, Abnormal esophagus mor... |
ORPHA:2357 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... |
OMIM:131100 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Feeding difficulties in infancy, Cryptorchidism, Sparse hair, Decreased testicular... |
ORPHA:127 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Hypohidrosis, Furrowed tongue, Nail dystrophy, Sparse hair,... |
ORPHA:140936 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Mild postnatal growth retardation, Sparse axillary hair, Malabs... |
ORPHA:2136 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... |
OMIM:607626 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Diarrhea, Leukocytosis, Vomiting, Thrombocytosis |
ORPHA:134 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Diarrhea, Hematochezia, Acholic stools, Bile duct proliferation, Steatorrhea, Hepat... |
OMIM:613812 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Recurrent infections due to as... |
OMIM:223900 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Diarrhea, Vomiting |
OMIM:212140 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Liver abscess, Ataxia, Abscess, Abdominal pain, Diarrhea, ... |
ORPHA:533 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:589821 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure |
OMIM:602579 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Hypothyroidism, Patchy alopecia, Short stature |
OMIM:617763 |
Developmental And Epileptic Encephalopathy 50 |
|
Broad-based gait, Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia |
OMIM:616457 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, ... |
ORPHA:449427 |
Diaphanospondylodysostosis |
|
Disproportionate short-trunk short stature, Cleft palate, Protuberant abdomen, Intrauterine growt... |
OMIM:608022 |
Cockayne Syndrome Type 1 |
|
Ataxia, Postnatal growth retardation, Cryptorchidism, Diarrhea, Hypohidrosis, Gait disturbance, D... |
ORPHA:90321 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Abnormal tongue morphology, Chronic diarrhea, Recurrent pneumonia, Sepsis, Hypohid... |
ORPHA:158668 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Decreased circulating antibody level, Hepat... |
ORPHA:247598 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Rhizomelia, Malabsorption, Sparse eyebrow, Decreased circulating antibody ... |
ORPHA:175 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:1883 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Feeding difficulties, Decreased circulating total IgM, High palate, Constipation, Ann... |
OMIM:618162 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sparse eyelashes, Pos... |
ORPHA:477 |
Vipoma |
|
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Malabsorption, Poor appetite, Elevated c... |
ORPHA:97282 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair, High palate, Dysphagia |
OMIM:620001 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Ataxia, Anemia, Abdominal pain |
OMIM:256700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, High, narrow palate, Synophrys, ... |
OMIM:300966 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Synophrys, Low posterior hairline, Thin eyebrow, Sparse hair |
OMIM:619320 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Hyperhidrosis, Vomiting, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:263455 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, High palate, Feeding difficulties |
OMIM:614105 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Sepsis, Microcolon |
OMIM:619362 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Sparse hair,... |
ORPHA:1005 |
Joubert Syndrome 37 |
|
Short stature, Cryptorchidism, High palate, Sparse hair, Decreased testicular size |
OMIM:619185 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Diarrhea, Feeding difficulties, Tip-toe gait, Constipation, High palate, Intermitt... |
OMIM:618050 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... |
ORPHA:90291 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Recurrent infections |
OMIM:615084 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... |
OMIM:602668 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Decreased circulating complement factor B concentration, Increased ci... |
ORPHA:2298 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
Shukla-Vernon Syndrome |
|
Sparse hair, Broad-based gait |
OMIM:301029 |
Rat-Bite Fever |
|
Parotitis, Lymphadenitis, Diarrhea, Sepsis, Vomiting, Meningitis, Pancreatitis, Anemia |
ORPHA:31205 |
Nicolaides-Baraitser Syndrome |
|
Recurrent respiratory infections, Dry hair, Absent eyebrow, Short stature, Sparse scalp hair, Hig... |
OMIM:601358 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Short stature, Decreased response to growth hormone stimulati... |
OMIM:619004 |
Thanatophoric Dysplasia, Type I |
|
Lethal short-limbed short stature, Disproportionate short-limb short stature, Protuberant abdomen |
OMIM:187600 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Abnormal ... |
ORPHA:678 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Hypohidrosis, Fi... |
ORPHA:1806 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sou... |
ORPHA:100080 |
Aredyld Syndrome |
|
Short stature, Splenomegaly, Intrauterine growth retardation, Sparse body hair, Aplasia/Hypoplasi... |
ORPHA:1133 |
Dyggve-Melchior-Clausen Disease |
|
Severe short stature, Rhizomelia, Inability to walk, Recurrent upper respiratory tract infections... |
ORPHA:239 |
Diamond-Blackfan Anemia 21 |
|
Short stature, Erythroid hypoplasia, Synophrys, Chronic diarrhea, Widow's peak, Anemia, Coarse ha... |
OMIM:620072 |
Metachromatic Leukodystrophy |
|
Ataxia, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal ga... |
ORPHA:512 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Recurrent infections, Microcolon |
OMIM:619351 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... |
OMIM:613960 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Narrow pa... |
OMIM:305450 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Cleft palate, Furrowed tongue, Gastroesophageal reflux, Constipation, High p... |
OMIM:616449 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen, Disproportionate short-trunk short stature, Disproportionate short-limb shor... |
OMIM:200610 |
Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Lobulated tongue, Hypoplastic nipples,... |
OMIM:269860 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Postnatal growth retardation, Feeding difficulties in infancy, Nasogastric tube... |
ORPHA:251028 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Hamamy Syndrome |
|
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... |
OMIM:611174 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Brittle hair, Short stature, Slow-growing hair, Feedin... |
ORPHA:1340 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Splenomegaly, Diarrhea |
OMIM:619849 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Diarrhea, Feeding difficulties |
OMIM:255120 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Ulcerative colitis, Increased circulating IgG level, Inflammation of the large intestine, Granulo... |
ORPHA:562639 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Chronic diarrhea,... |
ORPHA:2176 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate |
OMIM:269250 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/... |
OMIM:305100 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Progressive gait ataxia |
ORPHA:309263 |
Colchicine Poisoning |
|
Alopecia, Leukocytosis, Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Short stature, Feeding difficulties in infancy, Submucous cleft h... |
OMIM:618891 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Postnatal growth retardat... |
OMIM:613563 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Bradykinesia, Constipation, Gait imbalance, Nausea |
ORPHA:2828 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, Intractable diarr... |
OMIM:226730 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can... |
OMIM:608615 |
Sandhoff Disease |
|
Ataxia, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia, Hyperhidrosi... |
OMIM:268800 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Ataxia |
ORPHA:51188 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Abdominal pain, Hematemesis, Leukocytosis, Dia... |
ORPHA:340 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... |
OMIM:106260 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Thick hair, Postnatal growth retardation, Feeding difficulties, Coarse hair, High ... |
ORPHA:357074 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... |
ORPHA:100078 |
Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed menarche, Pancreatitis |
ORPHA:247585 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Encopresis, Unsteady gait, Feeding difficu... |
OMIM:616682 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Growth delay, S... |
OMIM:614114 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen, Severe short-limb dwarfism, Cleft palate, Mesomelic/rhizomelic limb shortening |
ORPHA:2347 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Abdominal pain, Lymphadenitis, Meningitis, Increa... |
ORPHA:449395 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Diarrhea, Limb ataxia, Constipation, Truncal ataxia, Episodic vomiting |
OMIM:105210 |
Carcinoid Syndrome |
|
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Episodic abdomi... |
ORPHA:100093 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Hypoplastic toenails, Cleft palate, Protuberant abdomen, Hypoplastic fingernail |
OMIM:228520 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting, Ataxia |
OMIM:560000 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Pyloric stenosis, Fine hair, Athetosis, Sparse hair, Intrauterine growth retardation |
OMIM:614438 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Cervical lymphadenopathy, Chronic diarrhea, Chronic ... |
OMIM:142680 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Hepatic failure, Abdominal distention, Lethargy |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Short stature, Protruding tongue, Postnatal growth retardation, Unsteady gait, Lon... |
OMIM:212066 |
Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Xerostomia, Abnormal spleen morphology, Nail dystrophy, Sparse hair |
ORPHA:85448 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Elevated circulating growth hormone concentration, Pituitary c... |
ORPHA:276152 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Short stature, Slow-growing hair, Highly arched eyebrow, Feeding difficulties in infa... |
OMIM:617506 |
Glass Syndrome |
|
Broad-based gait, Short stature, Cleft palate, High palate, Long eyelashes, Nail dysplasia, Spars... |
OMIM:612313 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Diarrhea |
ORPHA:94086 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Diarrhea, Recurren... |
OMIM:219700 |
Greenberg Dysplasia |
|
Rhizomelia, Hepatosplenomegaly, Severe short-limb dwarfism, Pancreatic islet-cell hyperplasia, Di... |
OMIM:215140 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Hypohidrosis, Hy... |
OMIM:257980 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Proportionate short stature, Feeding difficulties in infancy, Diarrhea, Vo... |
ORPHA:71212 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Alopecia, Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Rec... |
ORPHA:99921 |
Meckel Syndrome 14 |
|
Abdominal distention, Protuberant abdomen |
OMIM:619879 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, High palate, Sparse hair, Fragile n... |
ORPHA:77258 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen |
OMIM:151210 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Abdominal pain |
OMIM:617321 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Intrauterine growth retardation, Sparse hair |
OMIM:610756 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Hig... |
OMIM:616268 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis |
ORPHA:100976 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Feeding difficulties, Small pituitary gland, Disproportionate short-limb short stature, Protubera... |
OMIM:619479 |
Monosomy 18Q |
|
Short stature, Bilateral cryptorchidism, Low anterior hairline, Growth delay, Choreoathetosis, Hi... |
ORPHA:1600 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Intestinal malrotation, Feeding difficulties in infancy, Sparse eyebrow, Recurrent... |
OMIM:244450 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... |
OMIM:614594 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Plague |
|
Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, Unsteady gait, Lymphadenitis, Ente... |
ORPHA:707 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Rhizomelia, Thin nail, Short nail, Slow-growing hair, High, nar... |
OMIM:218330 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High pal... |
OMIM:162300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... |
ORPHA:2538 |
Kawasaki Disease |
|
Nausea and vomiting, Abnormality of nail color, Abdominal pain, Meningitis, Leukocytosis, Diarrhe... |
ORPHA:2331 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Vomiting |
OMIM:610768 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... |
ORPHA:424 |
Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Abnormal tongue morphology, High palate, Sparse hair, Hyp... |
ORPHA:2457 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Ataxia, Feeding difficulties |
OMIM:602473 |
Farber Disease |
|
Short stature, Chronic diarrhea, Recurrent upper respiratory tract infections, Hepatosplenomegaly... |
ORPHA:333 |
Opsismodysplasia |
|
Recurrent respiratory infections, Rhizomelia, Disproportionate short-limb short stature, Protuber... |
OMIM:258480 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair |
OMIM:614940 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Hypohidrosis, Fine ... |
OMIM:613451 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Protuberant abdomen, High palate, Cleft palate |
OMIM:616038 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Thyroid hypoplasia, Absent nipple, Short stature, Aplasia of th... |
OMIM:620186 |
Short Syndrome |
|
Sparse hair, Alopecia, Severe short stature, Poor appetite |
ORPHA:3163 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Macs Syndrome |
|
Alopecia, Short stature, Sparse eyebrow, Cryptorchidism, High palate, Recurrent aphthous stomatit... |
OMIM:613075 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Feeding difficulties, Recurrent infections, Gastroesophageal reflux, Constipation, High palate, S... |
OMIM:619934 |
Hurler Syndrome |
|
Recurrent respiratory infections, Short stature, Splenomegaly, Chronic diarrhea, Feeding difficul... |
ORPHA:93473 |
Coccidioidomycosis |
|
Coccidioidal meningitis, Eosinophilia, Abscess, Abnormality of the spleen, Invasive fungal infect... |
ORPHA:228123 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Short stature, Polycystic ovaries |
OMIM:268020 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegal... |
ORPHA:96123 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, High palate, Low posterior hairline |
OMIM:613174 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Cleft palate, Fine hair, High palate, Nail dysplasia, Sparse hair, Ap... |
OMIM:614091 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Anhidrosis, Diarrhea, Constipation |
OMIM:608654 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Proportionate short statur... |
OMIM:234100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Hypoplastic toenails, Diarrhea, Narrow palate, High palate, Vomi... |
OMIM:608836 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair |
OMIM:224900 |
Abetalipoproteinemia |
|
Reticulocytosis, Broad-based gait, Ataxia, Acanthocytosis, Chronic diarrhea, Dysmetria, Gait atax... |
ORPHA:14 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Feeding difficulties, Small nail, Sparse hair, H... |
OMIM:250410 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair |
ORPHA:69735 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ... |
ORPHA:2962 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate |
OMIM:620310 |
Mowat-Wilson Syndrome |
|
Short stature, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdominal distentio... |
OMIM:235730 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, Un... |
ORPHA:457279 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Hyposegmentation of neutrophil nuclei, Disproportionate short-limb short stature, Pro... |
OMIM:618019 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Absent eyelashes, C... |
OMIM:268400 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constip... |
ORPHA:500055 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Chronic diarrhea, Chro... |
OMIM:619005 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
Hardikar Syndrome |
|
Vomiting, Short stature, Cleft soft palate, Abdominal pain, Hepatosplenomegaly, Decreased liver f... |
OMIM:301068 |
Marshall Syndrome |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Cleft palate, Hypohidrosis, High palate, Sparse ... |
ORPHA:560 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair |
ORPHA:659 |
Ogden Syndrome |
|
Iron deficiency anemia, High palate, Vomiting, Polycythemia, Short stature, Sparse eyebrow, Crypt... |
OMIM:300855 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Decreased testicular size, Sparse body hair |
ORPHA:2234 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Orchitis, Increased circulating IgE level, Abnorm... |
ORPHA:449563 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Short stature, Sparse hair, Hepatocellular carcinoma |
OMIM:616200 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Lethargy |
ORPHA:173 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hy... |
ORPHA:99889 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroiditis, Enlar... |
ORPHA:79078 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Short stature, Fragile nails |
OMIM:242150 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Chronic diarrhea, Feeding difficulties, Dysphagia, Anemia |
OMIM:620358 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... |
ORPHA:2108 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elevated circulati... |
ORPHA:97287 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Narrow palate, High palate, Disproportionate short-limb short stature, Spa... |
OMIM:618644 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Decreased circulati... |
ORPHA:369837 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Rhizomelia, Cleft palate, Rhizomelic arm shortening, Protuberant abdomen |
ORPHA:56304 |
Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Pyloric stenosis, C... |
OMIM:602535 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postnatal growth retardation, Sparse eyebrow, Patchy alopecia, Spar... |
OMIM:302960 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Anal fissure, Perianal dermatitis, Bloody diarrhea, Horizont... |
ORPHA:294023 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Growth delay, High palate, Sparse hair |
OMIM:608612 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... |
ORPHA:2232 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Submucous cleft hard pa... |
ORPHA:1071 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Sparse scalp hair, Absence of Stensen duct, Decreased response ... |
OMIM:129900 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Cleft palate... |
ORPHA:2710 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Hyperhidrosis, Feeding difficulties, Recurrent infections, Smooth tongue, Dysphagi... |
OMIM:601559 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Hypopigmentation of hair, Malabsorption, Feedin... |
ORPHA:565 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Cryptorchidism, Cleft palate, Coarse hair, Gastroesophageal reflux, ... |
OMIM:607812 |
Achondrogenesis, Type Ia |
|
Disproportionate short-trunk short stature, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Anemia |
ORPHA:230 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Thrombocytopenia, Bloody diarrh... |
ORPHA:464321 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Tracheoesophageal fistula, Sparse body hair |
ORPHA:3068 |
Atelosteogenesis, Type I |
|
Rhizomelia, Cryptorchidism, Cleft palate, Disproportionate short-limb short stature, Protuberant ... |
OMIM:108720 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Growth delay, Volvulus, Microcolon |
OMIM:609313 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Cryptorchidism, Feeding difficulties, Loose anagen ... |
OMIM:607721 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Poor appetite, Diarrhea, Growth delay, Vomiting, Constipation |
ORPHA:18 |
Steinert Myotonic Dystrophy |
|
Alopecia, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, A... |
ORPHA:273 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Alopecia, Severe short stature, Aganglionic megacolon, Absent e... |
ORPHA:2273 |
Scarf Syndrome |
|
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair |
ORPHA:3134 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea, Hyperhidrosis |
ORPHA:43116 |
Malakoplakia |
|
Abdominal pain, Orchitis, Follicular hyperplasia, Diarrhea, Neoplasm of the rectum, Neoplasm of t... |
ORPHA:556 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Short stature, Cryptorchidism, Recurrent infections, High palate, Sparse hair |
OMIM:300661 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hepatosplenomegaly, Growth delay, Ma... |
ORPHA:96334 |
Eisenmenger Syndrome |
|
Brain abscess, Abdominal distention, Hypochromic microcytic anemia, Iron deficiency anemia, Incre... |
ORPHA:97214 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Cholelithiasis |
OMIM:213700 |
Congenital Disorder Of Glycosylation, Type It |
|
Short stature, Chronic diarrhea, Cleft palate, Growth delay, Vomiting, Delayed puberty, Recurrent... |
OMIM:614921 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Severe short stature, Ataxia, Postnatal growth retardation, Splenomegaly, C... |
OMIM:133540 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Cockayne Syndrome A |
|
Anhidrosis, Dry hair, Short stature, Ataxia, Splenomegaly, Cryptorchidism, Severe postnatal growt... |
OMIM:216400 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Growth delay, Hypoplastic nipple... |
OMIM:230740 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Rhizomelia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Gitelman Syndrome |
|
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Hyperhidrosis, Parathyro... |
ORPHA:358 |
Alg9-Cdg |
|
Villous atrophy, Rhizomelia, Diarrhea, Low posterior hairline, Hypoplasia of the ovary, Gastroeso... |
ORPHA:79328 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... |
ORPHA:29207 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Recurrent respiratory infections, Sparse scalp hair, Mild postnatal growth ret... |
OMIM:150230 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen |
OMIM:608328 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Lobulated to... |
ORPHA:2750 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Short stature, Fine hair |
OMIM:257850 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... |
OMIM:608156 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Short stature, Anterior pituitary hypoplas... |
OMIM:619841 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Broad lateral eyebrow, Curly hair, Gastroparesis, Proportionate short stature... |
ORPHA:500150 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Short stature, Rectal prolapse, Pseudohypoparathyroidism, Fee... |
OMIM:617157 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Hypohidrosis, Fine hair, Patchy alopecia,... |
OMIM:181270 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Highly arched eyebrow, Cleft palate, Gait ataxia, Acute lymphoblastic leukemia,... |
OMIM:280000 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairli... |
OMIM:272950 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Diarrhea, Dysmetria, Feeding difficulties, Gait ataxia, Dysdiadochokinesis, Vo... |
OMIM:606721 |
Atresia Of Urethra |
|
Abdominal distention, Recurrent urinary tract infections |
ORPHA:105 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Coarse hair, High palate, Sparse hair |
ORPHA:50814 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue no... |
OMIM:311200 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Recurrent respiratory infections, Short stature, Anterior pituitary hypoplasia, Splenomegaly, Abd... |
OMIM:619534 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Short stature, Diarrhea, Vacuolated lymphocytes, Macroglossia, ... |
OMIM:208400 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Cranioectodermal Dysplasia 2 |
|
Short stature, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, C... |
OMIM:613610 |
Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe intrauterine grow... |
ORPHA:3103 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Short stature, Decreased re... |
OMIM:615873 |
Oculodentodigital Dysplasia |
|
Dry hair, Ataxia, Slow-growing hair, Cleft palate, Fine hair, High palate, Sparse hair, Fragile n... |
OMIM:164200 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Short stature, Cleft palate |
OMIM:615349 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Ataxia, Diarrhea, Vomiting, Adrenal insufficiency, Nausea, Thrombocy... |
ORPHA:90062 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair |
OMIM:312830 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short nail, Short stature, Broad nail, Fine hair, Sparse hair |
OMIM:614099 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hyperhidrosis |
OMIM:614441 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Abdominal distention, Cryptorchidism, Ectopic anus, Disproportionate short-li... |
ORPHA:93271 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... |
ORPHA:444072 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Short stature, Feeding difficulties in infancy, Sparse eyebrow, S... |
OMIM:617140 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow |
OMIM:609460 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Breast hypoplasia, Cleft palate, Sparse body hair, Hypoplasia of the ovary, Delay... |
ORPHA:432 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Elevated hemoglobin A1c, Postnatal growth retardation, Sparse eyebrow, High palate... |
OMIM:619127 |
African Trypanosomiasis |
|
Alopecia, Akinesia, Splenomegaly, Diarrhea, Hepatosplenomegaly, Choreoathetosis, Abnormal prolact... |
ORPHA:3385 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anu... |
OMIM:151050 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Chime Syndrome |
|
Sparse hair, Fine hair, Cleft palate, Acute leukemia |
ORPHA:3474 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Hyperthyroidism, Short stature, Ataxia, De... |
ORPHA:3455 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pyloric stenosis, Macroglossi... |
OMIM:218040 |
Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Diarrhea, Hyperaldosteronism, Constipation, Vomiting, Impaired platelet aggregation |
OMIM:241200 |
Myhre Syndrome |
|
Ataxia, Short stature, Cryptorchidism, Cleft palate, Fine hair, Birth length less than 3rd percen... |
OMIM:139210 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Hypohidr... |
ORPHA:548 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Dys... |
OMIM:150400 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Growth delay, Vomiting |
ORPHA:47159 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Abdominal pain, Increased circulating IgG level, Normochromic anemia... |
ORPHA:91500 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Short stature, Diarrhea, Hyperaldosteronism, Constipation, Vomiting |
OMIM:601678 |
Leptospirosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Lymphadenopathy, Meningitis, Thrombocyto... |
ORPHA:509 |
Renpenning Syndrome 1 |
|
Brittle hair, Short stature, Cleft palate, High palate, Sparse hair, Poor suck, Decreased testicu... |
OMIM:309500 |
Cocaine Intoxication |
|
Abdominal pain, Intestinal perforation, Bloody diarrhea, Hyperhidrosis, Gastrointestinal infarcti... |
ORPHA:90068 |
Scalp-Ear-Nipple Syndrome |
|
Recurrent urinary tract infections, Abnormal fingernail morphology, Hypohidrosis, Breast aplasia,... |
ORPHA:2036 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Disproportionate short statu... |
OMIM:210710 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Sparse hair, Br... |
ORPHA:920 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged pol... |
ORPHA:90796 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Short stature, Intestinal malrotation, Supernumerary nipple, Hiatus he... |
OMIM:305600 |
Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
Occipital Horn Syndrome |
|
Hiatus hernia, Chronic diarrhea, Growth delay, Coarse hair, High palate, Pili torti |
OMIM:304150 |
Scorpion Envenomation |
|
Acute pancreatitis, Ataxia, Abdominal pain, Diarrhea, Hyperhidrosis, Vomiting |
ORPHA:466677 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... |
ORPHA:217085 |
Menke-Hennekam Syndrome 1 |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Cleft palate, Feeding difficulties,... |
OMIM:618332 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... |
ORPHA:217093 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Intestinal malrotation, Congenital hypothyroidism, Feeding difficulties, Pancreatic aplasia, Apla... |
ORPHA:2255 |
Wrinkly Skin Syndrome |
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Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ... |
ORPHA:2834 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Secretory diarrhea, Hyperhidrosis |
OMIM:167100 |
Mucopolysaccharidosis Type 2 |
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Short stature, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Recurrent upper respirat... |
ORPHA:580 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Malrotation of colon, Pyloric stenosis, Postnatal growth retardation, Crypt... |
OMIM:113620 |
Premature Aging Syndrome, Penttinen Type |
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Sparse hair |
OMIM:601812 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Abnormal eyelash morphology, Chronic diarrhea, Gastroesophageal ... |
ORPHA:3164 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Atypical Werner Syndrome |
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Abnormal hair quantity, Alopecia, Short stature, Abnormal hair morphology, Abnormal hair whorl, P... |
ORPHA:79474 |
Chikungunya |
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Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Vomiting, Infectious encephalitis |
ORPHA:324625 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Alopecia, Severe short stature, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, C... |
ORPHA:2636 |
Sapho Syndrome |
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Abdominal pain, Malabsorption, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea |
ORPHA:793 |
Cerebrotendinous Xanthomatosis |
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Ataxia, Chronic diarrhea, Gait disturbance, Cholelithiasis, Hypothyroidism |
ORPHA:909 |
Pallister-Killian Syndrome |
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Anteriorly placed anus, Sparse hair, Bifid uvula, Alopecia, Rhizomelia, Mesomelic/rhizomelic limb... |
OMIM:601803 |
Meconium Ileus |
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Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Woodhouse-Sakati Syndrome |
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Alopecia, Fine hair, Choreoathetosis, Sparse hair, Decreased testicular size |
OMIM:241080 |
Restrictive Dermopathy |
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Short nail, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eyebrow, Submucous cleft hard... |
ORPHA:1662 |
Hawkinsinuria |
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Sparse hair |
OMIM:140350 |
Sarcoidosis, Susceptibility To, 1 |
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Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Hypoplastic nipples, Sparse hair, Hypop... |
OMIM:200110 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Diarrhea, Choreoathetosis, Vomiting, Testicular teratoma |
ORPHA:217253 |
Primrose Syndrome |
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Sparse scalp hair, Ataxia, Short stature, Absent facial hair, Bilateral cryptorchidism, Cryptorch... |
OMIM:259050 |
Neurocardiofaciodigital Syndrome |
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Sparse hair, High palate, Sparse eyebrow, Short stature |
OMIM:619869 |
Wrinkly Skin Syndrome |
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Short stature, Short nail, Cryptorchidism, High palate, Sparse hair, Intrauterine growth retardat... |
OMIM:278250 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia |
ORPHA:567 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe... |
OMIM:268300 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia |
OMIM:188400 |