Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase a... |
ORPHA:277 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
ORPHA:169154 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
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 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal... |
ORPHA:98813 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... |
OMIM:301082 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Splenomegaly, Lymphad... |
OMIM:618495 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... |
OMIM:615767 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Immunodeficiency 27A |
|
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Incr... |
OMIM:209950 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... |
OMIM:614470 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc... |
OMIM:618048 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... |
OMIM:300635 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia |
ORPHA:60026 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Autoimmun... |
ORPHA:331206 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Increased circulating IgE le... |
OMIM:304790 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pne... |
ORPHA:169160 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... |
OMIM:102700 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... |
OMIM:613011 |
Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, In... |
ORPHA:3261 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... |
OMIM:616100 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... |
ORPHA:158061 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating... |
OMIM:618394 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Nail dystrophy |
OMIM:270300 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... |
OMIM:607624 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... |
ORPHA:33355 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Failure to thrive, Antiphospholipid antibody positivity, Rheumatoi... |
OMIM:615934 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad... |
OMIM:615387 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Chronic hepatitis due to cryptosporidium... |
ORPHA:572 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody l... |
ORPHA:397596 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell function, Pure red cell a... |
OMIM:613179 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... |
OMIM:242860 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Rheumatoid factor positive, Eosinophilia, Abscess, Ataxia, I... |
OMIM:615816 |
Netherton Syndrome |
|
Decreased circulating IgG level, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyeb... |
OMIM:256500 |
Ataxia-Telangiectasia |
|
Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG level, At... |
OMIM:208900 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Neutropenia, Hypothyroidism,... |
ORPHA:37042 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Autoimmu... |
OMIM:243150 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Immunodeficiency 51 |
|
Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocyte physiology, Pustule, Chronic mu... |
OMIM:613953 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... |
OMIM:619126 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneo... |
OMIM:618282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 22 |
|
Failure to thrive, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating total IgM, Asci... |
OMIM:615758 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Auto... |
ORPHA:47 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... |
OMIM:193670 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Choreoathetosis, Increased circulating IgG level, Steppage gait, Gait disturbance, ... |
ORPHA:206594 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Q Fever |
|
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... |
ORPHA:781 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Increased circulating IgG4 level, Eosinophilia, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail... |
OMIM:614700 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level |
OMIM:152800 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,... |
ORPHA:83471 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... |
ORPHA:83313 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr... |
OMIM:619705 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis... |
ORPHA:228426 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni... |
ORPHA:905 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Abnormal f... |
ORPHA:75564 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227990 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Hepatomegaly |
OMIM:619175 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... |
OMIM:620210 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... |
OMIM:605309 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Agammaglobulinemia, Decreased circ... |
OMIM:300755 |
Chilblain Lupus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... |
ORPHA:90280 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Sy... |
ORPHA:90033 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... |
OMIM:150550 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... |
ORPHA:227982 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean p... |
ORPHA:84064 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Brittle hair, Increased circulating IgA level, Bilateral cryptorchidism, Abdom... |
OMIM:616395 |
Lead Poisoning |
|
Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... |
ORPHA:330015 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Ataxia, Hypopigmentation of hair, Polycystic ovaries, Decre... |
ORPHA:100 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Insulin-resistant diabetes mellitus, Autoimmune antibody positivity, Weight loss, S... |
ORPHA:411593 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Ataxia, Abnormality of hair texture, Sparse or absent eyelashes, Gait disturbance, Pili torti, Ap... |
ORPHA:2891 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... |
OMIM:616740 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell m... |
ORPHA:760 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Abn... |
ORPHA:2298 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Increased circulating IgE level, Dystrophic f... |
ORPHA:2314 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Decreased circulating complement C3 concentration, Lymphocytosis, Hepatic steatosis... |
ORPHA:79087 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... |
OMIM:616084 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... |
ORPHA:33110 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level, Long eyelashes |
OMIM:616069 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy |
ORPHA:89843 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... |
ORPHA:90060 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... |
OMIM:209920 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulat... |
ORPHA:275 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased acid sphingomyeli... |
OMIM:607616 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Felty Syndrome |
|
Hepatomegaly, Autoimmunity, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Weight loss, Bone ma... |
ORPHA:47612 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... |
ORPHA:514 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Incre... |
ORPHA:508533 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystro... |
ORPHA:3162 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis... |
ORPHA:39041 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepat... |
OMIM:613385 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral ... |
OMIM:242900 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... |
ORPHA:157991 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Thymoma |
|
Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal ly... |
ORPHA:99867 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Systemic lupus erythematosus, Anemia, Low posterior hairline, Increas... |
OMIM:170100 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Melioidosis |
|
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... |
ORPHA:31202 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... |
OMIM:612541 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... |
OMIM:229050 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hepatomegaly |
OMIM:230350 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Cutaneous anergy |
OMIM:114580 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenom... |
ORPHA:353298 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Inability to walk, Synophrys, Low anterior hairline... |
OMIM:617303 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Cholecystitis, Decrea... |
ORPHA:449395 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Ataxia, Hepatomegaly |
ORPHA:796 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... |
OMIM:301074 |
Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... |
ORPHA:186 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... |
OMIM:617591 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Obesity, Hypogonadism |
ORPHA:3409 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, R... |
OMIM:275350 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... |
OMIM:619381 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Absce... |
ORPHA:400 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... |
ORPHA:293978 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody positivity, Orc... |
ORPHA:449563 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Tempi Syndrome |
|
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Increased circulat... |
ORPHA:634 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormalit... |
ORPHA:2584 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:66628 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Genital ulcers, Antinuclear antibody positivity, Lupus anticoagulant, Lymphopen... |
OMIM:616744 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... |
ORPHA:91138 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... |
ORPHA:292 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus, Difficulty walking |
OMIM:612782 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Increased circulating IgG level, Leukopenia, Abnormali... |
ORPHA:1304 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... |
ORPHA:1959 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Inflammatory abnormality of th... |
ORPHA:391487 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Pancreatitis... |
ORPHA:79312 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, A... |
OMIM:269920 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Autoimmunity, Hepatitis, Hypoplasia of the thymus, R... |
ORPHA:436252 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level, Paronychia, Onychogryposis |
OMIM:614328 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... |
OMIM:269200 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Ataxia, Failure to thrive in infancy, Fluctuati... |
OMIM:610377 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... |
ORPHA:1572 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Cryptorchidism, Fine hair, Premature graying of ... |
OMIM:613990 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Autoimmunity, Microcytic anemia, Thrombocytopen... |
ORPHA:906 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Pneumonia, Autoimmune thrombo... |
ORPHA:1855 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu... |
ORPHA:75233 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Mac... |
ORPHA:398124 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... |
ORPHA:158029 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal ... |
ORPHA:91139 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... |
OMIM:614034 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated gamma-glutamyltransferase level, ... |
OMIM:619573 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ... |
ORPHA:540 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... |
ORPHA:108 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... |
ORPHA:2905 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... |
ORPHA:101330 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inabili... |
OMIM:257200 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic ... |
ORPHA:284 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Thromb... |
OMIM:214500 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Increased... |
ORPHA:100083 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... |
ORPHA:77259 |
Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:121300 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Smith-Kingsmore Syndrome |
|
Curly hair, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating Ig... |
OMIM:616638 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... |
OMIM:610199 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of scalp, Hypo... |
OMIM:201100 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Copper Deficiency, Familial Benign |
|
Curly hair, Failure to thrive, Early balding, Anemia |
OMIM:121270 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb... |
ORPHA:520 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating ... |
OMIM:300953 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... |
ORPHA:79078 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly |
OMIM:105200 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa... |
ORPHA:454836 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Antinuclear antibody positivity, Thr... |
ORPHA:50918 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Iga Pemphigus |
|
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun... |
ORPHA:555905 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair |
ORPHA:1174 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... |
OMIM:615846 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Curly hair, Brittle hair, Hypospadias, Small for gestational age, Increased mean pl... |
OMIM:222470 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Weight loss, Ascites, Anemia |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... |
ORPHA:2552 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Ataxia, Reduced natural killer cell activity, Splenomegaly, Jaundice,... |
OMIM:603553 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... |
ORPHA:158048 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, C... |
OMIM:620005 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Impaired T cell function, Autoimmunity, Abnormal ly... |
ORPHA:1830 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F... |
OMIM:619644 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Synophrys, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG leve... |
OMIM:300861 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Lymphadenopathy, Ovarian neop... |
ORPHA:2221 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, External genital hypoplasia, Inappropriate antidiuretic hormon... |
ORPHA:79330 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o... |
ORPHA:169090 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nail dystrophy, D... |
OMIM:620040 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Ataxia, Thyroiditis, Weight loss, Iron deficiency anemia, Delayed pu... |
OMIM:212750 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... |
ORPHA:449427 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... |
OMIM:601847 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Hearing impairment |
OMIM:617577 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hepatitis |
ORPHA:584 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, Abscess, Abnormality of the endocrine system, Abnormalit... |
ORPHA:228123 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Abnormal toenail morphology, Impaired T cell function, Anemia |
ORPHA:30 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48104 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... |
ORPHA:36234 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... |
OMIM:256550 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Left v... |
OMIM:242840 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... |
OMIM:614576 |
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 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly |
OMIM:602390 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circula... |
ORPHA:319251 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly |
OMIM:620296 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Thrombocytosis, Ataxia, Portal hypertension, Splenomegaly, Leukocytos... |
OMIM:615688 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Cu... |
OMIM:110100 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly... |
ORPHA:3260 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Nail dystrophy, Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Decreased acid ceramidase activity |
OMIM:228000 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Small nail, Neutropenia, Failure ... |
OMIM:614520 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F... |
ORPHA:160 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Failure to thrive, Ataxia |
OMIM:619046 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Incr... |
OMIM:210250 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Lymphadenopat... |
ORPHA:3386 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Leukopenia, White forelock, Hepatic fib... |
OMIM:613989 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf... |
OMIM:277900 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Revesz Syndrome |
|
Aplastic anemia, Ataxia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Spars... |
OMIM:268130 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... |
ORPHA:88 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Sensorineural hearing impairment, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Prominent eyelashes, Lymphadenopathy |
OMIM:616651 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ... |
ORPHA:71275 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... |
ORPHA:298 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Limb ataxia, Gait atax... |
OMIM:248500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Failure to thrive, Increased circulating IgE level, Reduced circulating growth hormo... |
OMIM:615508 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Decreased... |
ORPHA:169105 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Spa... |
OMIM:222700 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron... |
OMIM:606003 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidis... |
ORPHA:373 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Broad-based gait, Alopecia,... |
ORPHA:2959 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... |
ORPHA:199299 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Athetosis, Gait disturbance, As... |
ORPHA:834 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... |
ORPHA:125 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Paroxysmal Cold Hemoglobinuria |
|
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... |
ORPHA:317 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis... |
ORPHA:2331 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Autoimmunity, Skin rash, Gastritis, Splen... |
ORPHA:809 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis, Anti-thyr... |
OMIM:615577 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimm... |
ORPHA:90003 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Orchitis, Splenomegaly, ... |
ORPHA:99827 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytos... |
OMIM:267700 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Hawkinsinuria |
|
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair |
ORPHA:2118 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... |
ORPHA:505248 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... |
OMIM:613404 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Increased... |
ORPHA:33364 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Slow-growing hair, Sparse eye... |
ORPHA:1896 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Autoimmunity, Puberty and gonadal disorders, Splenomegaly, Anti-thyroid peroxidase ... |
ORPHA:525731 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus, Sparse... |
ORPHA:1133 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroidism, Syste... |
OMIM:607944 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Lymphadenopath... |
ORPHA:33226 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaund... |
OMIM:613471 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Abnormality of hair texture, Widow's peak, Low posterior hairline, Shawl scrotum, Ri... |
ORPHA:1520 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... |
ORPHA:379 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Hypogonadism, N... |
OMIM:601675 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia |
OMIM:619745 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... |
OMIM:611881 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Autoimmunity, Impaired T cell function, Abnorma... |
ORPHA:567 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Small for gestational age, Abnormal isohemaggl... |
ORPHA:99843 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Hypogonadism, Cachexia |
ORPHA:2574 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Mediastinal lymphadenopath... |
ORPHA:73263 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture, Megaloblastic anemia, Athetosis, Hypogonadism, Failure to thrive |
ORPHA:79351 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... |
OMIM:611590 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
Weaver Syndrome |
|
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypoplastic toena... |
ORPHA:3447 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, L... |
ORPHA:861 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Lymphadenopathy, A... |
ORPHA:85450 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia... |
OMIM:612199 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Digeorge Syndrome |
|
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Hypopigmentation of hair, Ataxia, Thrombocytopenia, ... |
ORPHA:167 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Abnormality of the... |
ORPHA:79329 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... |
ORPHA:575 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypertension, Hypot... |
OMIM:619487 |
Giant Axonal Neuropathy |
|
Unsteady gait, Abnormal pituitary gland morphology, Falls, Difficulty walking, Woolly hair, Pili ... |
ORPHA:643 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Abdominal mass, Weight loss, Failure to thrive, Anemia |
OMIM:256700 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Anemia, Increased circulating antibody level, G... |
ORPHA:77261 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... |
OMIM:257220 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Uveitis, Lymphadenopathy, Arth... |
ORPHA:36412 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Gait disturbance, Decreased c... |
ORPHA:457485 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Antinuclear antibody positivity, Cervical lymphadenopathy, Decreased mean plat... |
OMIM:617718 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... |
ORPHA:79324 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, H... |
OMIM:616817 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Precocious puberty, Jaundice, Ovarian neoplasm, Weight los... |
ORPHA:370348 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level,... |
ORPHA:51636 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Bone marrow hypocellularity, Pancre... |
ORPHA:562 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Concave nail, Cryptorchidism, Fine hair, Small nail, Micropenis, D... |
OMIM:300978 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, D... |
ORPHA:83617 |
Noonan Syndrome 4 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, High anterior hairline, Th... |
OMIM:610733 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... |
ORPHA:85443 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair |
OMIM:614800 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Weight loss, Thrombocytosis |
ORPHA:134 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horizontal eyebrow, ... |
OMIM:620072 |
Gm1 Gangliosidosis |
|
Ataxia, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Weight loss, Abnormality of the scrotum,... |
ORPHA:354 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... |
ORPHA:1333 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis |
OMIM:612387 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Fine hair, Long eyelashes, Labial hypoplasia, High anterior hairline |
ORPHA:231137 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Leukocytosis, Jaundice, Lipid accumulation in hepatocyt... |
ORPHA:20 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Hypertrichosis, Decreased cir... |
OMIM:210900 |
Psoriasis 14, Pustular |
|
Nail dystrophy, Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa... |
ORPHA:329918 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... |
OMIM:235200 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... |
OMIM:158310 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Hypothyroidism, D... |
ORPHA:1882 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... |
ORPHA:647 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Incre... |
ORPHA:355 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Weight loss, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:248111 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen... |
ORPHA:90051 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Weight loss |
ORPHA:704 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Transient hyp... |
ORPHA:3132 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Clubbing, Conductive hearing impairment, Abnormal sperm mot... |
ORPHA:244 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level... |
ORPHA:48377 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis, Failure to thrive |
OMIM:230600 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia |
ORPHA:52417 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno... |
OMIM:181000 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
Chops Syndrome |
|
Curly hair, Thick hair, Splenomegaly, Synophrys, Cryptorchidism, Obesity, Coarse hair, Long eyela... |
OMIM:616368 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Diabetes mellitus, Small for gestational age, Synophrys, Low anterior hairline,... |
ORPHA:391408 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding |
OMIM:616943 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G... |
OMIM:617988 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity, An... |
ORPHA:536 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Ataxia, Fine hair |
OMIM:272300 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... |
ORPHA:83597 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Coarse hair, Thick eyebrow, Hepatomegaly |
ORPHA:585 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly |
OMIM:612852 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypothyroidism, Anemia |
ORPHA:3452 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:83317 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Riddle Syndrome |
|
Decreased circulating IgG level, Ataxia |
OMIM:611943 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Antinuclear antibody positiv... |
ORPHA:470 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Varic... |
ORPHA:49041 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo... |
ORPHA:1775 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... |
OMIM:613563 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Nail dystrophy, Neutropenia, Sp... |
OMIM:604173 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microv... |
ORPHA:275761 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert... |
OMIM:613177 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or ... |
ORPHA:217346 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Difficulty walking |
ORPHA:171442 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Gait disturbance, Autoimmunity, Weight loss |
ORPHA:183 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Abnormality of complement system, Generalized hirs... |
ORPHA:2348 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy |
ORPHA:26790 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Meige Disease |
|
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... |
ORPHA:90186 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... |
OMIM:275000 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Fine hair, Anemia, Truncal obesity, Abnormality of female external genitalia,... |
ORPHA:2637 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... |
OMIM:259700 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Difficulty walking, Weight loss |
ORPHA:98897 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair,... |
ORPHA:96123 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri... |
ORPHA:509 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Papa Syndrome |
|
Type I diabetes mellitus, Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Curly hair, Splenomegaly, Synophrys, Woolly hair, Coarse hair, Recurrent pancreatit... |
OMIM:618268 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Vacuolated lymphocytes, Hypertrichosis, Hepatomegaly |
OMIM:230500 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Albinism, Neutropenia |
OMIM:617050 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
OMIM:607625 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Ataxia, Hypothyroidism, Dysmetri... |
OMIM:212065 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Hypospadias, Abnormal fingernail morphology, Abnormality o... |
ORPHA:235 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l... |
ORPHA:90363 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... |
ORPHA:100075 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... |
ORPHA:36238 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ... |
ORPHA:2963 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Gait disturbance, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Hepatomegaly, Alopecia, Failure to thrive |
ORPHA:50812 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Tubul... |
OMIM:203800 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Small for gestational age, Sparse eyela... |
OMIM:264090 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... |
ORPHA:3243 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thick eyebrow, Splenomegaly, Synophrys, Coarse hair, Difficulty walking, Facial hir... |
OMIM:252940 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair... |
ORPHA:3082 |
Granulomatosis With Polyangiitis |
|
Cytoplasmic antineutrophil antibody positivity, Granulomatosis, Perinuclear antineutrophil antibo... |
OMIM:608710 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Autoimmunity, Adrenal hypoplasia, Sparse... |
ORPHA:95409 |
Noonan Syndrome |
|
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormality of the spleen, C... |
ORPHA:648 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Increased circulating IgE level, Hypereosinophilia, Decreased circul... |
OMIM:619472 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Ataxia, Dysmetria, Gait ataxia |
OMIM:618093 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Thin eyebrow, ... |
ORPHA:3242 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr... |
OMIM:608885 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail |
OMIM:611553 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Huntington Disease |
|
Inability to walk, Weight loss, Gait disturbance, Gait imbalance, Difficulty walking, Decreased b... |
ORPHA:399 |
Noonan Syndrome 8 |
|
Curly hair, Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Failure to t... |
OMIM:615355 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Hennekam Syndrome |
|
Sparse axillary hair, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circul... |
ORPHA:2136 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... |
ORPHA:163654 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Delayed pu... |
ORPHA:1328 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... |
ORPHA:797 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Mucolipidosis Type Ii |
|
Dry hair, Inability to walk, Splenomegaly, White hair, Weight loss, Hepatosplenomegaly, Fine hair... |
ORPHA:576 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:667 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Hyperinsulinemia, Failure to thrive, Hepatic steatosis, Hirsutism, De... |
OMIM:613327 |
Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Abnormal vagina morphology, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... |
ORPHA:99429 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Weight loss, ... |
ORPHA:1332 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Christianson Syndrome |
|
Thick eyebrow, Truncal ataxia, Cachexia, Gait ataxia |
ORPHA:85278 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair, Thrombocytopenia |
OMIM:612394 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... |
ORPHA:75389 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Coarse hair, Failure to thrive, Abnormality of hair texture |
OMIM:219200 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... |
OMIM:239200 |
Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus, Ataxia |
ORPHA:97229 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... |
OMIM:115150 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... |
OMIM:129400 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Hypospadias, Ataxia, Fine hair |
OMIM:619428 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Autoimmunity, Mediastinal lymphadenopathy, Autoimmune antibody positivity, Weight l... |
ORPHA:79128 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type... |
ORPHA:2047 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c... |
ORPHA:91500 |
Huntington Disease-Like 1 |
|
Weight loss, Gait disturbance, Dysmetria, Gait ataxia |
ORPHA:157941 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Isolated Succinate-Coq Reductase Deficiency |
|
Loss of ambulation, Left ventricular hypertrophy, Ataxia, Weight loss |
ORPHA:3208 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Scheie Syndrome |
|
Splenomegaly, Rhinitis, Hepatomegaly |
ORPHA:93474 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... |
ORPHA:32960 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... |
ORPHA:99826 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Splenomegaly, Hirsutism, Coarse hair, Thick eyebrow |
OMIM:253220 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Weight loss, Decreased circulating total IgM, Gait disturban... |
ORPHA:420741 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Renal Nutcracker Syndrome |
|
Vulval varicose vein, Varicocele, Anemia, Weight loss |
ORPHA:71273 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Concave nail, Hypop... |
ORPHA:3071 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Broad-based gait, Coarse hair, Synophrys |
OMIM:616351 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron con... |
OMIM:619991 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia |
ORPHA:36426 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Weight loss, Long eyelashes, Neutropenia |
ORPHA:79430 |
Alexander Disease Type I |
|
Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive, Ataxia, Gait disturbance |
OMIM:300986 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... |
ORPHA:1655 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Thick hair, Adenoiditis, Cardiomegaly, Splenomegaly, Synophrys, Recurrent t... |
ORPHA:581 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash... |
OMIM:263700 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Brittle hair, Small for gestational age, Hypospadias, Failure to thrive in infa... |
OMIM:618891 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ataxia, Cryptorchidism, Athetosis, Micropenis |
OMIM:619435 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair |
ORPHA:1839 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism |
ORPHA:228390 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus |
ORPHA:1979 |
Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Ataxia, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Hypogonad... |
OMIM:216400 |
Noonan Syndrome 2 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Leukemia |
OMIM:605275 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Decreas... |
OMIM:607143 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Low-set ears... |
ORPHA:8 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Ataxia, Small for gestational age, Abnormal hair morphology, Splenomegaly... |
OMIM:133540 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... |
OMIM:232220 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Bullous Pemphigoid |
|
Diabetes mellitus, Autoimmunity, Weight loss |
ORPHA:703 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Diabetes insipidus,... |
ORPHA:35687 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Failure to thrive |
OMIM:615279 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct... |
OMIM:253260 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Steppage gait |
OMIM:256850 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Hall-Riggs Syndrome |
|
Coarse hair, Failure to thrive, Slow-growing hair, Thick hair |
ORPHA:2107 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful... |
ORPHA:319213 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Sparse scalp hair, Splenomegaly, Defective production of NFKB1-dependent cytokines,... |
OMIM:612132 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism, Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb... |
ORPHA:572333 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Tip-toe gait, Sparse hair... |
OMIM:252500 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the liver, Failure to thrive, Abnormality of hair texture, Hepatocellular carcinoma |
ORPHA:88618 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchidism, Hypothyroidism |
ORPHA:96169 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... |
ORPHA:171876 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Obesity, Fine hair |
OMIM:620250 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad-based gait, Highly arched eyebrow, Large for gestational age, Gait ataxia, Ac... |
OMIM:280000 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circula... |
OMIM:602668 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster... |
ORPHA:261318 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Inability to walk, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Fine hair, Gait disturbance, Hypogonadism, Long eyelashes, ... |
ORPHA:261349 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, De... |
OMIM:223370 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Micropenis |
OMIM:618810 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Rheumatoid Arthritis |
|
Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis,... |
OMIM:180300 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Polymyositis |
|
Hepatomegaly, Gait disturbance, Autoimmunity, Weight loss |
ORPHA:732 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior ... |
ORPHA:955 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Broad-based gait, Cachexia, Abnormality of the spleen, Splenomegaly, Limb ataxia, H... |
ORPHA:2072 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Aplastic/hypoplastic toenai... |
ORPHA:1812 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Ogden Syndrome |
|
Cryptorchidism, Shuffling gait, Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Small for gestational age, Abnormality of hair texture, Cryptorchidism, Fair hair |
OMIM:610443 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Inflammatory abnormality of ... |
ORPHA:565612 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss |
ORPHA:216866 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Hepatic steatosis |
ORPHA:42 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline, Large for gestational age |
OMIM:613706 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... |
OMIM:276700 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Crypt... |
ORPHA:1340 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato... |
ORPHA:77293 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Autoimmune antibo... |
ORPHA:424 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hypospadias, Fine hair |
ORPHA:363686 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Thrombocy... |
ORPHA:84 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Generalized hirsutism, Cachexia |
ORPHA:1933 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... |
ORPHA:342 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Autoimmunity, Weight loss, Abnormality of... |
ORPHA:221 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, External genital hypoplasia, Cryptorchidism, Fine hair, Sparse hair, Micropenis... |
ORPHA:251028 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasi... |
OMIM:614091 |
Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Autoimmunity, Weight loss, Granulomatosis, Abnormality of the hypothalamus-pi... |
ORPHA:900 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Cockayne Syndrome |
|
Hepatomegaly, Dry hair, Diabetes mellitus, Ataxia, Cachexia, Splenomegaly, Cryptorchidism, Inabil... |
ORPHA:191 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Skin rash, Hepatomegaly |
ORPHA:53715 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Giant Cell Arteritis |
|
Alopecia, Ataxia, Mediastinal lymphadenopathy, Weight loss, Diabetes insipidus |
ORPHA:397 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al... |
ORPHA:79277 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Cryptorchidism, Curly hair |
OMIM:616559 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Vaginal neoplasm, Pelvic mass, Weight loss, Neoplasm of the liver... |
ORPHA:2126 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... |
ORPHA:99228 |
Monosomy X |
|
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... |
ORPHA:99226 |
Turner Syndrome |
|
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... |
ORPHA:881 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100080 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Fine hair, G... |
ORPHA:2710 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Micropenis, Thor... |
OMIM:619503 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hypog... |
ORPHA:85293 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia |
OMIM:615821 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:3384 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Hepatic fibrosis, Failure to thrive, Trichorrhexis ... |
OMIM:207900 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... |
OMIM:617506 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Premat... |
ORPHA:163746 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair |
ORPHA:1028 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivity, Activating t... |
ORPHA:99819 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... |
ORPHA:2108 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity |
ORPHA:83600 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... |
ORPHA:90794 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Dry hair, Splenomegaly, Unsteady gait, Premature graying of hair, Difficulty walking |
ORPHA:90324 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Hypoplastic ... |
ORPHA:978 |
Behçet Disease |
|
Ataxia, Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Gait disturbance, Pancreatitis |
ORPHA:117 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Spastic gait, Fine hair |
ORPHA:3079 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... |
OMIM:613070 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance |
ORPHA:702 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100082 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Coarse hair, Hypospadias, Abnormal hair pattern |
ORPHA:1786 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Cryptorchidism, Athetosis, Fine hair |
OMIM:614438 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Short Syndrome |
|
Sparse hair, Alopecia, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, F... |
OMIM:234100 |
Chime Syndrome |
|
Sparse hair, Fine hair, Acute leukemia |
ORPHA:3474 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Weight loss |
OMIM:168605 |
Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Jaundice, Microvesicular hepatic... |
OMIM:300855 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... |
ORPHA:90797 |
African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Akinesia, Abnormality of the endocrine system, Splenomegaly, Jaundice, He... |
ORPHA:3385 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome... |
ORPHA:75565 |
Occipital Horn Syndrome |
|
Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:440437 |
Craniofrontonasal Syndrome |
|
Ridged nail, Split nail, Curly hair, Hypospadias, Cryptorchidism, Widow's peak, Low posterior hai... |
OMIM:304110 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ... |
OMIM:269700 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Freckled genitalia, Anemia |
ORPHA:79076 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Cryptorchidism, Thrombocytopenia, Fine hair, Azoospermia,... |
ORPHA:534 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Sparse hair |
OMIM:608612 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... |
ORPHA:37 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma... |
ORPHA:3353 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... |
ORPHA:144 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... |
OMIM:601214 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Cryptorchidism, Low anterior ... |
OMIM:601358 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome... |
OMIM:219800 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thriv... |
OMIM:163950 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... |
OMIM:227650 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... |
OMIM:167210 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ... |
OMIM:305100 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Ataxia, Highly arched eyebrow, Synophrys, Decreased circulating ... |
OMIM:617062 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Failure to thrive, Thick hair |
ORPHA:357074 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair |
OMIM:277590 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Large for gestational age, Cryptorchidism, Loose anagen hair, Long... |
OMIM:607721 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Scarring alopecia of scalp, Splenomegaly, Loss of eyelas... |
ORPHA:95159 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Small scrotum, Cryptorchidism, Fine hair, Clitoral hypertrophy |
ORPHA:85201 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking |
ORPHA:300605 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Labial... |
OMIM:608594 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Decreas... |
OMIM:602535 |
Adrenomyeloneuropathy |
|
Frontal balding, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Fine hair, Ad... |
ORPHA:139399 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Vaginal neoplasm, Weight loss, Smooth muscle antibody positivity, Abnormality ... |
ORPHA:1018 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Sparse hair, Absent hair |
OMIM:614940 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Coarse hair |
OMIM:619603 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody posi... |
ORPHA:99885 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Congenital Analbuminemia |
|
Small for gestational age, Increased circulating antibody level, Obesity |
ORPHA:86816 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Ataxia, Precocious puberty, Low anterior hairline, Tip-toe gait, Long eyelashes, Hori... |
OMIM:619950 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... |
ORPHA:96149 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Failure to thrive |
ORPHA:444072 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Hypospadias |
OMIM:619184 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Glossopharyngeal Neuralgia |
|
Autoimmunity, Weight loss |
ORPHA:221098 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Progressive gait ataxia, Increased circulating antibody level, Limb ataxia, Gait ataxia |
OMIM:606002 |
Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abnormality o... |
ORPHA:31204 |
Scleromyxedema |
|
Paraproteinemia, Abnormality of thyroid physiology |
ORPHA:167635 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Cytoplasmic antineutrophil antibody positi... |
OMIM:233450 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Coarse hair |
OMIM:130720 |
Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia |
OMIM:312750 |
Fontaine Progeroid Syndrome |
|
Sparse scalp hair, Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Synop... |
OMIM:612289 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Opitz-Kaveggia Syndrome |
|
Hypospadias, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss |
OMIM:600072 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Abnormal fingerna... |
ORPHA:444077 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Falls... |
ORPHA:2388 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... |
ORPHA:251510 |
Oculodentodigital Dysplasia |
|
Dry hair, Ataxia, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Gerstmann-Straussler Disease |
|
Weight loss, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:137440 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Alopecia, Phimosis, Abnormal vagina morphology, Weight loss, Onycholysis, Nail dyst... |
ORPHA:99921 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Pancreatic cysts, Abnormality of the pancreas, Coarse hair, Spars... |
ORPHA:2750 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia |
OMIM:607459 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Ataxia, Cachexia |
ORPHA:52503 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Juvenile Dermatomyositis |
|
Alopecia, Autoimmunity, Weight loss |
ORPHA:93672 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Conductive hearing impairment |
OMIM:244400 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Noonan Syndrome 10 |
|
Left ventricular hypertrophy, Cryptorchidism, Curly hair, Sparse eyebrow |
OMIM:616564 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse h... |
ORPHA:920 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair |
OMIM:616202 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts |
OMIM:311200 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryp... |
ORPHA:1772 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
Myhre Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Obesity, Fine hair, Sparse hair, Thick eyebrow |
OMIM:139210 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Paraproteinemia |
ORPHA:439232 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d... |
ORPHA:2237 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Autoimmune antibody positivity, Weight loss |
ORPHA:747 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum |
ORPHA:1974 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Thin nail, Malformation of the hepatic ductal plate, Short nail,... |
OMIM:218330 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:29072 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... |
ORPHA:85410 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Hypothyroidism, Low anterior hairline |
OMIM:618569 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Long eyelashes in irregular rows, Cachexia, Low anterior hairline, G... |
ORPHA:800 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal... |
ORPHA:64 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Failure to thrive, Lymphangiect... |
OMIM:218040 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis, Uterine neoplasm |
ORPHA:109 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibr... |
OMIM:124000 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Failure to thrive in infancy, Sparse eyebrow, Secretory IgA defic... |
ORPHA:500150 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Small for gestational age, Hypospadias, Impaired T cell function, Chordee, Del... |
OMIM:176690 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Weight loss |
ORPHA:411602 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Thick eyebrow, Dry hair, Hypospadias, Cryptorchidism, Hypoplastic fifth finger... |
OMIM:135900 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
Melnick-Needles Syndrome |
|
Coarse hair, Failure to thrive, Gait disturbance, Frontal hirsutism |
OMIM:309350 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Sparse eyebrow, Failure to thrive, Broad eyebrow |
OMIM:617140 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Cysticercosis |
|
Increased circulating antibody level, Ataxia |
ORPHA:1560 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Prolonged neonata... |
OMIM:210710 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Loss of eyelashes,... |
ORPHA:740 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice |
ORPHA:565 |
Trisomy 18 |
|
Cryptorchidism, Abnormal toenail morphology, Abnormal morphology of female internal genitalia, Ca... |
ORPHA:3380 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Patchy alop... |
OMIM:305600 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Decreased response to growth hormone stimulation test... |
OMIM:613406 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Ascites, Cachexia |
OMIM:610965 |
Chand Syndrome |
|
Curly hair, Ataxia, Imperforate hymen, Nail dysplasia |
ORPHA:1401 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Sparse hair, Decreased testicular size, Sparse lateral eyebrow |
OMIM:309500 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weight, Uterine prola... |
OMIM:303600 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Difficulty walking, Weight loss |
OMIM:164310 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture |
ORPHA:73223 |
Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia |
ORPHA:220295 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
Seckel Syndrome |
|
Sparse scalp hair, Cachexia |
ORPHA:808 |
Reactive Arthritis |
|
Dystrophic fingernails, Abnormality of the nail, Weight loss |
ORPHA:29207 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, H... |
ORPHA:480880 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... |
ORPHA:286 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
Congenital Fiber-Type Disproportion Myopathy |
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Failure to thrive, Weight loss |
ORPHA:2020 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Cachexia |
ORPHA:3217 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
Marfan Syndrome |
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Slender build, Cachexia |
ORPHA:558 |
Primary Fanconi Renotubular Syndrome |
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Weight loss |
ORPHA:3337 |
Stickler Syndrome |
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Slender build, Cachexia |
ORPHA:828 |
Norrie Disease |
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Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Delayed puberty, Failure to thrive |
ORPHA:649 |