Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D... |
OMIM:615615 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu... |
OMIM:618261 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 102 |
|
Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lym... |
OMIM:301082 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Decreased propo... |
OMIM:619802 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral can... |
OMIM:300400 |
Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent... |
OMIM:615707 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Absence ... |
OMIM:269840 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... |
OMIM:618986 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Neutrophil... |
OMIM:619281 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag... |
OMIM:267500 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... |
OMIM:202700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Recurrent viral infections, Increased circulating antibody level, Increased circulating... |
ORPHA:169154 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Alopecia, I... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Severe r... |
ORPHA:276 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil... |
OMIM:614493 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
OMIM:613101 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Reduced natural killer cell count, Decre... |
OMIM:618108 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... |
OMIM:212050 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Immunodeficiency 15A |
|
Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-po... |
OMIM:618204 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Decreased circulating IgG lev... |
OMIM:308240 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Alopecia, Recurren... |
OMIM:603554 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Thrombocytosis, Chronic infect... |
ORPHA:86841 |
Immunodeficiency 52 |
|
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... |
OMIM:617514 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... |
OMIM:619313 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... |
ORPHA:277 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Recurrent bacterial infections, Decreased circulating total IgM, Eos... |
OMIM:243700 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Increased circulating IgA level, Elevated circulating C-reactive protein conce... |
OMIM:615934 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Chron... |
ORPHA:75564 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... |
OMIM:233650 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoim... |
OMIM:614470 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Immunodeficiency 8 |
|
Lymphopenia, Recurrent respiratory infections |
OMIM:615401 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Immunodeficiency 50 |
|
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... |
OMIM:300988 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia, Recurrent respiratory infections, Recurrent otitis media |
OMIM:615617 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent inf... |
ORPHA:35078 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Recur... |
OMIM:600802 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... |
OMIM:616941 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... |
OMIM:619752 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Recurren... |
ORPHA:331206 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Splenomegaly, Hyper... |
OMIM:609981 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemi... |
OMIM:601457 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... |
ORPHA:443811 |
Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Recur... |
OMIM:607624 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... |
ORPHA:572 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... |
OMIM:613500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Fair hair, Ocular albini... |
OMIM:608233 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Immunodeficiency 104 |
|
Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Sterile abscess, Throm... |
OMIM:604416 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
OMIM:618534 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Lymphadenitis, Severe v... |
ORPHA:331235 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... |
OMIM:612692 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu... |
OMIM:608957 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Cervical lymphadenopathy, Aplasti... |
ORPHA:2442 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, T... |
OMIM:615607 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Type I diabetes mellitus, Recurrent viral infections, Decreased proportion of ... |
OMIM:606367 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... |
OMIM:242860 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... |
ORPHA:217390 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell recept... |
OMIM:602450 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Absence of lymph node germinal center, Panhypogammaglobulinemia, Pancy... |
ORPHA:79124 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:618048 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating IgA level, Abnormal hair morphology, Decreased circulati... |
OMIM:208900 |
Syndromic Diarrhea |
|
Lymphopenia, Woolly hair, Brittle hair, Splenomegaly, Small for gestational age, Generalized hypo... |
ORPHA:84064 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 25 |
|
Recurrent candida infections, Autoimmune hemolytic anemia, Increased circulating IgA level, Eosin... |
OMIM:610163 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Re... |
OMIM:226300 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... |
OMIM:603553 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Neutropenia in pres... |
OMIM:613179 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, L... |
ORPHA:100024 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic... |
OMIM:618213 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... |
OMIM:618982 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:540 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... |
OMIM:619164 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... |
ORPHA:169160 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Lymphopenia, Recurrent bronchopulmonary infections, Pyoderma, Aplasia of the t... |
OMIM:242700 |
Ataxia-Telangiectasia |
|
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Hypopigment... |
ORPHA:100 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... |
OMIM:618969 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia, Neonatal hypoproteinem... |
OMIM:152800 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... |
OMIM:618944 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 84 |
|
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Melanocytic nevus |
ORPHA:3319 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... |
OMIM:616860 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... |
OMIM:613011 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent otitis media,... |
ORPHA:444463 |
Poems Syndrome |
|
Increased circulating antibody level, Hypertrichosis, Leukonychia, Abnormality of the endocrine s... |
ORPHA:2905 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytosis, Splenom... |
OMIM:301078 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Spl... |
OMIM:102700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Abnormal hair quantity, Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Alopecia, Decreased circulating cortisol level, Sep... |
ORPHA:293978 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity |
OMIM:605309 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG le... |
OMIM:618495 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... |
OMIM:224120 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Decreased circulating IgG level, Leukocytos... |
OMIM:618278 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
OMIM:619381 |
Reticular Dysgenesis |
|
Failure to thrive, Sepsis, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circula... |
ORPHA:33355 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... |
OMIM:619693 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:158061 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Adrenal insufficiency, Splenomegaly, Extra... |
ORPHA:231226 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Recurrent lower r... |
OMIM:612541 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Woolly hair, Sparse hair, Brittle hair, Splenomegaly, Small for gestational ag... |
OMIM:222470 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Alopecia, Iron deficiency anemi... |
OMIM:212750 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory... |
OMIM:615767 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... |
OMIM:616740 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Type I diabetes m... |
OMIM:614700 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, D... |
OMIM:619767 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Agammaglobulinemia, X-Linked |
|
Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulating IgA level, Pyoderma, ... |
OMIM:300755 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, Decreased circu... |
OMIM:308230 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Recurrent bacteri... |
OMIM:240500 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Hyperpi... |
OMIM:604250 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent bacteri... |
OMIM:209920 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Seps... |
OMIM:616100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Orotic Aciduria |
|
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired ... |
OMIM:258900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral... |
OMIM:114580 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Brucellosis |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Orchitis, Leukocytosis,... |
ORPHA:1304 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... |
ORPHA:90362 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T cells, De... |
OMIM:616098 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... |
OMIM:601495 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Recurrent meningitis, Abnor... |
OMIM:612260 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent bacterial infections, E... |
ORPHA:486 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Vici Syndrome |
|
Failure to thrive, Recurrent fungal infections, Decreased circulating IgG level, Ocular albinism,... |
OMIM:242840 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hyperammonemia, Thrombocytosis, Hyperuricemia, Weight loss |
ORPHA:134 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Splenomegaly, Hypopigmentation of the skin, Increased erythr... |
ORPHA:79277 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 31C |
|
Lymphopenia, Hypothyroidism, Chronic mucocutaneous candidiasis, Delayed puberty, Diabetes mellitu... |
OMIM:614162 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Brittle hair, Tiger tail banding... |
OMIM:616395 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypergonadot... |
OMIM:212065 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Weight loss, Hyperuricemia, Anemia |
ORPHA:20 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Thrombocytope... |
OMIM:617591 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Failure to thrive |
OMIM:604273 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... |
ORPHA:381 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... |
ORPHA:231154 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... |
OMIM:301045 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, T... |
ORPHA:507 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Recurrent infections, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Cryptorchidism, Monocytosis, Recurrent infections |
OMIM:610680 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... |
OMIM:308220 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Fine hair, Agammaglobulinemia, Anemia, Recurrent respiratory infections, White hair |
ORPHA:935 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Persistent EBV viremia, Decreased proportion of class... |
OMIM:619126 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent ... |
OMIM:616576 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Low anterior hairline, Small for gestational age,... |
ORPHA:124 |
Schimke Immunoosseous Dysplasia |
|
Neutropenia, Lymphopenia, Hypermelanotic macule, Small for gestational age, Anemia, Coarse hair, ... |
OMIM:242900 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Persistent human papillomavirus infection, Cryptococcal meningitis |
OMIM:618309 |
Icf Syndrome |
|
Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Recurrent ... |
ORPHA:2268 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Dec... |
OMIM:616084 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... |
ORPHA:324636 |
Immunodeficiency 23 |
|
Failure to thrive, Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgE lev... |
OMIM:615816 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Sepsis, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, B lymphocy... |
OMIM:251260 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hyperlipidemia, Lymphopenia, Hypermelanotic macule, Small for gestational age,... |
ORPHA:1830 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of ... |
ORPHA:848 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigment... |
OMIM:214500 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Chronic oral candidiasis, Abnormality of neutrophil physiology, Leuk... |
ORPHA:2968 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Partial al... |
ORPHA:79477 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hyperammonemia, Intraalveolar phospholipid accumulation, Hypothyroidism, Throm... |
OMIM:615486 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia, Abno... |
ORPHA:760 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Sepsis, Hypoplasia of the thymus, Abnormal platelet ... |
ORPHA:906 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Decreased response to growth hormone stimulation test, Pyod... |
OMIM:307200 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... |
OMIM:300291 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent bronchitis, D... |
ORPHA:1572 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatosplenomegal... |
OMIM:618935 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia |
ORPHA:71493 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Popov-Chang syndrome |
|
Failure to thrive, Lymphopenia, Coarse hair, Decreased circulating antibody level, Recurrent otit... |
OMIM:618428 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Decreased proportion of CD4-positive h... |
ORPHA:543 |
Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight ... |
ORPHA:88673 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, H... |
ORPHA:846 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Elevated circulating long chain fatty acid concentration, Hypoplasia of the th... |
OMIM:214110 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Increased propo... |
ORPHA:167 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Sepsis, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Elevated ... |
OMIM:614576 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Severe infection, Eosinophilia, Au... |
OMIM:304790 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Obesity, Red hair |
ORPHA:71526 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Premature graying of hair, Lymphopenia, Sparse hair, Reticular hyperpigmentation, Alop... |
OMIM:127550 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Cryptorchidism, Sp... |
OMIM:620005 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreas... |
OMIM:619375 |
Cyclic Neutropenia |
|
Lymphopenia, Opportunistic infection, Cervical lymphadenopathy, Severe infection, Sepsis, Recurre... |
ORPHA:2686 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test |
OMIM:618624 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproli... |
ORPHA:3260 |
Thymoma |
|
Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a... |
ORPHA:99867 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Elevated circulating C-reactive protein concentrat... |
OMIM:617099 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Failure to thrive, Sparse scalp hair, Premature graying of hair, G... |
ORPHA:3322 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Albini... |
OMIM:614072 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Lymphopenia, Cryptorchidism, Hypergonadotropic hypo... |
OMIM:617053 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hyperpigmented nevi, Decreased serum testosterone concentration, Small ... |
ORPHA:2959 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... |
OMIM:614878 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Failure to thrive, Decreased serum testosterone concentration, Sple... |
OMIM:201100 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Recurrent upper respiratory tract infections, Leukopenia, B lymphocytopenia, Recurre... |
ORPHA:508542 |
Whim Syndrome |
|
Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177910 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia |
OMIM:617425 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Sparse hair, Absent eyebrow, Hypoplasia of the thymus, Peritoneal abscess, Rectal abscess, Type I... |
ORPHA:436252 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
Cartilage-Hair Hypoplasia |
|
Lymphopenia, Sparse hair, Sparse eyebrow, Congenital hypoplastic anemia, Fair hair, Sparse eyelas... |
OMIM:250250 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Abscess, Abdominal obesit... |
ORPHA:125 |
Alg12-Cdg |
|
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Failure to thrive, Eosinophilia, Recurrent urinary tract infections, Decrea... |
ORPHA:90045 |
Diamond-Blackfan Anemia 1 |
|
Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ... |
OMIM:105650 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail, Small for gestational age |
ORPHA:621 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Anisopoikilocytosis, Abnormal... |
ORPHA:231214 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Recurrent urinary tract infections, Mediastinal lymphaden... |
ORPHA:169105 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased mean corpuscular volume, Anemia of inadequate production, Hypoparathyro... |
ORPHA:231222 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Cholelithiasis, Anemia of inadequate production, In... |
ORPHA:3202 |
Digeorge Syndrome |
|
Hydrocele testis, Cholelithiasis, Decreased circulating parathyroid hormone level, Hypocalcemia, ... |
OMIM:188400 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss |
ORPHA:2221 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Thyroiditis, Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antib... |
ORPHA:391487 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:611783 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... |
ORPHA:330015 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Red hair |
OMIM:609734 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hypogo... |
OMIM:617575 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Recurrent respiratory inf... |
OMIM:615758 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Alopecia, Sepsis, Decreased prealbumin level, Type I diabetes mellitus... |
ORPHA:37042 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Sepsis, Elevated circulating ... |
ORPHA:454836 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:617907 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent fungal infections, Elevated circulating C-reactive protein concentration, Hypokalemia, ... |
OMIM:619573 |
Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Abnormal toenail morphology, Anemia, Recurrent respirator... |
ORPHA:30 |
Cowden Syndrome 1 |
|
Hydrocele testis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Decreased circulati... |
OMIM:158350 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypopigmented skin patches on arms, Neutropenia, Lymphopenia, Hypermelanotic macule, Autoimmune t... |
OMIM:607944 |
Erythrocytosis, Familial, 2 |
|
Failure to thrive, Elevated circulating erythropoietin concentration, Increased hematocrit, Incre... |
OMIM:263400 |
Legionnaires Disease |
|
Lymphopenia, Splenomegaly, Sepsis, Recurrent pharyngitis, Infectious encephalitis, Hyponatremia, ... |
ORPHA:549 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... |
OMIM:275350 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Nail dysplasia, Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Nail dystrophy, Neu... |
OMIM:613989 |
Immunodeficiency 49 |
|
Hirsutism, Eosinophilia, Lymphopenia |
OMIM:617237 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Neutropenia, Small for gestational age, Persistence of hemoglobin F, Recurrent... |
OMIM:260400 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, HbH hemoglobin, Cryptorc... |
ORPHA:98791 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Sepsis, Recurrent upper respiratory tract infections, Recurrent lowe... |
OMIM:233600 |
Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411515 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Seco... |
ORPHA:90363 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypoparathyroidism, Failure to thrive, Hypocalcemia, Abnormality of thrombocytes,... |
ORPHA:567 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age, Albinism, White eyelashes, White eyebrow |
OMIM:600501 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Synophrys |
ORPHA:391307 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Recurrent upper respiratory tract infections, Recurrent pneumonia, O... |
OMIM:619769 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Eec Syndrome |
|
Thick eyebrow, Decreased response to growth hormone stimulation test, Sparse eyebrow, Generalized... |
ORPHA:1896 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Recurrent infections, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocyto... |
ORPHA:88 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cryptorchidism, Sparse hair, Abnormal circulating lipid concentration, Truncal obesi... |
OMIM:616541 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Alopecia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphaden... |
ORPHA:93552 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Thrombocy... |
OMIM:617718 |
Treacher-Collins Syndrome |
|
Failure to thrive, Low anterior hairline, Hypoplasia of the thymus, Abnormality of the adrenal gl... |
ORPHA:861 |
Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
Livedoid Vasculopathy |
|
Graves disease, Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperpigmen... |
ORPHA:542643 |
Immunodeficiency 58 |
|
Cutaneous abscess, Onychomycosis, Failure to thrive, Recurrent upper respiratory tract infections... |
OMIM:618131 |
Hennekam Syndrome |
|
Hypocalcemia, Lymphopenia, Lymphangioma, Splenomegaly, Sparse axillary hair, Pulmonary lymphangie... |
ORPHA:2136 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Failure to thrive, Decreased circulating total IgM, Severe B lymphocytopenia, Coa... |
ORPHA:83617 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Obesity, Fair hair, Blue irides |
OMIM:614613 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Failure to thrive, Increased serum testosterone level, Absent eyebrow, Sparse ... |
OMIM:264090 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Normocytic anemia, Thrombocytopeni... |
ORPHA:289390 |
Doors Syndrome |
|
Low anterior hairline, Toenail dysplasia, Congenital hypothyroidism, Abnormal fingernail morpholo... |
ORPHA:79500 |
Fusariosis |
|
Onychomycosis, Unusual CNS infection, Lymphopenia, Invasive fungal infection, Paronychia, Brain a... |
ORPHA:228119 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Hypokalemia, Lymphopenia, Orchitis, Hyperammonemia, Severe ... |
ORPHA:99826 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Supernumerary nipple, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemo... |
OMIM:141750 |
Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Noonan Syndrome 14 |
|
Lymphopenia, Sparse hair, Sparse eyebrow, Cryptorchidism, Curly hair, Low posterior hairline |
OMIM:619745 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Sev... |
ORPHA:319213 |
Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, N... |
OMIM:222800 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
Monosomy 22 |
|
Sparse hair, Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia, Synophrys |
ORPHA:96123 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly |
OMIM:618541 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... |
OMIM:618156 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Cryptorchidism, Recurrent urinary tract infections, Infectious encephalitis,... |
ORPHA:847 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Splenomegaly, Mediastinal lymphadenopathy, Abnormal salivar... |
OMIM:181000 |
Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
Proteus-Like Syndrome |
|
Irregular hyperpigmentation, Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplas... |
ORPHA:2969 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
Hermansky-Pudlak Syndrome |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... |
ORPHA:79430 |
Cushing Disease |
|
Abdominal obesity, Sparse scalp hair, Hirsutism, Paradoxical increased cortisol secretion on dexa... |
ORPHA:96253 |
Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches |
ORPHA:53271 |
Degcags Syndrome |
|
Hypertrichosis, Long eyelashes, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Rec... |
OMIM:619488 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
Duodenal Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased hematocrit, Glucagonoma, Increased c... |
ORPHA:100076 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Cryptorchidism, Hypopigmentation of hair, Iris hypopigmentation, Anemia |
ORPHA:2719 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411511 |
Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Microsporidiosis |
|
Adrenocortical abnormality, Cachexia, Sepsis, Lymphadenitis, Brain abscess, Abnormality of the pa... |
ORPHA:2552 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia |
OMIM:619708 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:98795 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central adrenal insufficiency, Decreased inhibin B level, Precocious puberty, Decreased circulati... |
ORPHA:177901 |
Prader-Willi-Like Syndrome |
|
Central adrenal insufficiency, Decreased inhibin B level, Abnormality of the endocrine system, Pr... |
ORPHA:398073 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Impaired T cell function, Recurrent infections, Cryptorchidism |
OMIM:192430 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Adrenocortical abnormality |
ORPHA:3384 |
Proteus Syndrome |
|
Generalized hirsutism, Abnormality of retinal pigmentation, Ovarian neoplasm, Irregular hyperpigm... |
ORPHA:744 |
Cystinosis, Nephropathic |
|
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Primary hypothyroidism, ... |
OMIM:219800 |
Congenital Ptosis |
|
Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Decreased response to growth hormone st... |
ORPHA:739 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Splenomegaly, Hypopigmentation of hair, Heterochromia iridis, Premat... |
ORPHA:163746 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Diabetes mellitus, Abnormality of T cell physiology, Parathyroi... |
ORPHA:2237 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Hypocalcemia, Fair hair, Decreased response to growth hormone stimulation te... |
ORPHA:280651 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Progeroid Short Stature With Pigmented Nevi |
|
Small for gestational age, Impaired T cell function, Delayed puberty, Diabetes mellitus, Recurren... |
OMIM:176690 |
Charge Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Lymphopenia, Decreased response to growth hormone stimulation t... |
OMIM:214800 |