Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... |
OMIM:615513 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunoerythromyeloid Hypoplasia |
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Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Glycogen Storage Disease Vi |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... |
OMIM:601859 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Neutropenia, Chronic Familial |
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Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... |
OMIM:616005 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... |
OMIM:209950 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Lipodystr... |
OMIM:612526 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... |
OMIM:603909 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia |
ORPHA:37748 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... |
OMIM:618048 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... |
ORPHA:83313 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... |
ORPHA:331206 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Epicanthus, Short stature, Synophrys, Abnormality of the elbow, Abnormal rib morphology, Pectus c... |
ORPHA:3268 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level |
OMIM:152800 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... |
OMIM:617099 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
OMIM:610717 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Miscarriage, Lipoatrophy, Oligomenorrhea, Hepatic steatosis |
OMIM:613877 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... |
OMIM:620210 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Death in infancy, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase... |
OMIM:615395 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide... |
ORPHA:369 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... |
ORPHA:169160 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures |
OMIM:611369 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Death in infancy, Severe short stature, Short stature, Block vertebrae, Rib fus... |
OMIM:277300 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Short stature |
OMIM:609813 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Upslanted palpebral fi... |
ORPHA:1797 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... |
OMIM:613101 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s... |
OMIM:608709 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Death in infancy, Epicanthus, Downslanted palpebral fissures, Hepatomegaly |
OMIM:614882 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Irregular menstruation, Hepatic steatosis, Inc... |
OMIM:615238 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short stature, Cryptorchidism, Rib fusion, Abnormal rib morphology, Upslanted pa... |
ORPHA:1988 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... |
OMIM:619048 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Becker Nevus Syndrome |
|
Lipoatrophy, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Oligomenorrhea, ... |
ORPHA:79085 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Gracile Syndrome |
|
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Cirrhosis, E... |
ORPHA:53693 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ... |
OMIM:615934 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Severe short stature, Missing ribs, Disproportionate short-trunk short stature,... |
OMIM:122600 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion, Disproportionate short-trunk short stature |
OMIM:608681 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal eyelid morphology, Abnormal sternum morphology, Pterygium, Short stat... |
ORPHA:2990 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o... |
OMIM:102700 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Inguinal hernia, Short stature, Camptodactyly of finger, Congenit... |
ORPHA:2311 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnormal circu... |
OMIM:615980 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
OMIM:151660 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... |
OMIM:606069 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Short stature, Synophrys, Rib fusion, Narrow chest, Bifid ribs, Hernia, Sprengel anom... |
ORPHA:1394 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Amenorrhea, Oligomenorrhe... |
ORPHA:528 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:620010 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Hepatic steatosis |
ORPHA:26792 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 22 |
|
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... |
OMIM:615758 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... |
ORPHA:562639 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Increased circulat... |
ORPHA:2137 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Short stature, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short r... |
OMIM:617405 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
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 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... |
ORPHA:443811 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia... |
ORPHA:91139 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Short stature |
ORPHA:329249 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m... |
OMIM:617303 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Rhizomelia, Short stature, Postnatal growth retardation, Cryptorchidism, Rib ... |
OMIM:611209 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy |
ORPHA:79084 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru... |
ORPHA:3111 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449432 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... |
OMIM:615122 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Microtriplication 11Q24.1 |
|
Joint dislocation, Short stature, Synophrys, Hyperlipidemia, Genu valgum, Upslanted palpebral fis... |
ORPHA:289522 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Dy... |
ORPHA:79083 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:264580 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... |
OMIM:304790 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr... |
OMIM:617872 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hyperammonemia, Growth delay, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... |
ORPHA:29073 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated c... |
OMIM:619386 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Hypogonadism, Intrauterine gro... |
OMIM:608540 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... |
OMIM:300755 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypercholesterolemia |
ORPHA:254531 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
Temple Syndrome |
|
Hypertriglyceridemia, Short stature, Hypercholesterolemia, Cryptorchidism, Flexion contracture, I... |
OMIM:616222 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Hyper... |
OMIM:261750 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... |
ORPHA:79303 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly... |
ORPHA:79237 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Growth delay, ... |
ORPHA:263501 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circulating antibody lev... |
OMIM:617591 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Pancreatitis |
OMIM:246650 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen... |
OMIM:607616 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Short stature, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, R... |
OMIM:613686 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Rift Valley Fever |
|
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... |
ORPHA:319251 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal ... |
ORPHA:1354 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hypoalbum... |
OMIM:619013 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Inguinal hernia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Bilateral pt... |
ORPHA:544488 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Epicanthus, Inguinal hernia, Short stature, Craniosynostosis, Highly arched eye... |
OMIM:213980 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Short stature, Narrow chest |
ORPHA:417 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature |
ORPHA:366 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Short stature, Cryptorchidism, Synophrys, Rib fusion, Cervical rib... |
OMIM:148050 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... |
OMIM:300972 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level |
ORPHA:100 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Short stature |
ORPHA:300536 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn... |
ORPHA:186 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Hepatomegaly |
ORPHA:2576 |
Laron Syndrome |
|
Severe short stature, Osteoarthritis, Abnormality of the elbow, Delayed puberty, Hypercholesterol... |
ORPHA:633 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebro... |
OMIM:615704 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Growth delay, Steatorrhea... |
ORPHA:71 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... |
ORPHA:1304 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... |
ORPHA:381 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... |
OMIM:260920 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level |
ORPHA:1296 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hyperuricemia |
ORPHA:364 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ... |
ORPHA:77259 |
Congenital Analbuminemia |
|
Miscarriage, Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hyperchole... |
ORPHA:86816 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... |
OMIM:170100 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... |
ORPHA:400 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis |
ORPHA:449427 |
19P13.12 Microdeletion Syndrome |
|
Epicanthus, Craniosynostosis, Cryptorchidism, Synophrys, Hyperlipidemia, Arthrogryposis multiplex... |
ORPHA:254346 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... |
ORPHA:228123 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... |
ORPHA:505248 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Ptosis, Hepatomegaly, Hypertriglyceridemia, Short stature, Microno... |
ORPHA:98907 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... |
ORPHA:33226 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Conj... |
OMIM:617093 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Decrease... |
ORPHA:353298 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Disproportionate short s... |
ORPHA:1801 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Death in infancy, Flexion contracture, Distal arthrogryposis |
OMIM:616287 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Multiple lipomas, Supernumerary ribs, B... |
ORPHA:50 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Hypercholesterolemia, Postnatal growth retardation, Cryptorchidism, Intrauterine g... |
ORPHA:96184 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Sca... |
ORPHA:101330 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide... |
OMIM:232200 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Postnatal growth retardation, Hiatus hernia, Rib fusion, Supernume... |
OMIM:304050 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Autosomal Recessive Robinow Syndrome |
|
Ptosis, Epicanthus, Death in infancy, Inguinal hernia, Camptodactyly of finger, Pectus excavatum,... |
ORPHA:1507 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Cardiomegaly, Synophrys, Hyperprol... |
OMIM:619064 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Intrauterine growth retardation, Failure to thrive, Flexion contracture |
OMIM:618237 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Intrauterine growth retardation, Abnormal rib morphology, Short s... |
ORPHA:195 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... |
ORPHA:79078 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal tho... |
OMIM:269920 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster... |
ORPHA:474 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Ptosis |
OMIM:610539 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Short stature |
OMIM:182290 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated hepatic transaminase, Microvesicu... |
OMIM:613070 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... |
OMIM:610198 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Short stature |
ORPHA:1513 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Short thorax, Flexion contracture, Pe... |
ORPHA:87876 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Short stature, Short clavicles, Highly arched eyebrow |
ORPHA:401923 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ... |
ORPHA:169105 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Hypertriglyceridemia |
OMIM:618010 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholesterolemia, Abnormal ... |
ORPHA:567548 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
OMIM:201475 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level |
OMIM:619750 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Cryptorchidism, Abnormal rib morphology, Narrow chest, Blepharophimosis,... |
ORPHA:1703 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c... |
OMIM:232220 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Lateral clavicle hook, Splenomegaly, Cholestasis, Genu valgum, Bell-... |
OMIM:615630 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Epicanthus, Highly arched eyebrow, Congenital diaphragmatic herni... |
ORPHA:280 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Intrahepati... |
OMIM:601847 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Short stature, Cryptorchidism, Radial head subluxation, Rib... |
OMIM:146510 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, ... |
ORPHA:79086 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Short stature |
ORPHA:2089 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... |
ORPHA:540 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... |
OMIM:209920 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Monosomy 13Q34 |
|
Hepatic steatosis, Epicanthus, Metrorrhagia, Hypercalcemia, Growth delay, Horizontal eyebrow, Ost... |
ORPHA:96168 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth retardation |
OMIM:619751 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Irre... |
ORPHA:79259 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Gout |
OMIM:610947 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Mild postnatal growth retardation, Short stat... |
ORPHA:168549 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Highly arched eyebrow, Abnormality of the elbo... |
ORPHA:2319 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Missing ribs, Postnatal growth re... |
OMIM:206900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic... |
OMIM:620005 |
Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Promine... |
OMIM:616651 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Death in infancy, Hepatic steatosis, Hepatomegaly, Premature ovari... |
OMIM:212065 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Ptosis |
OMIM:614688 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Inguinal hernia, Short stature, Missing ribs, Pectus excavatum, Cryptorchidism,... |
OMIM:268310 |
Neuhauser Syndrome |
|
Epicanthus, Genu recurvatum, Short stature, Genu valgum, Hypercholesterolemia, Downslanted palpeb... |
OMIM:249310 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... |
ORPHA:1572 |
Galloway-Mowat Syndrome 7 |
|
Pectus excavatum, Cubitus valgus, Short stature, Hypercholesterolemia |
OMIM:618348 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... |
ORPHA:90003 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiome... |
OMIM:235200 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Hepatic steatosis |
ORPHA:210548 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Zttk Syndrome |
|
Absent gallbladder, Epicanthus, Short stature, Craniosynostosis, Sparse eyebrow, Flexion contract... |
OMIM:617140 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Elevated circulating creatine kina... |
OMIM:608836 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... |
ORPHA:99827 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Failure to thrive, Death in childhood |
OMIM:614096 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Rib fusion, Craniosynostosis |
ORPHA:261197 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Hepatomegaly, Rhizomelia, Abnormality of the elbow, Bell-shaped thorax, Severe... |
ORPHA:1842 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:614921 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... |
ORPHA:99829 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Death in infancy, Elevated hepatic transaminase, Conjugated hyperbilirubinemia,... |
OMIM:617156 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Thin clavicles, Thin ribs, Growth delay, Hypocalcemic seizures, Hyp... |
ORPHA:93324 |
Achondrogenesis Type 1B |
|
Severe short stature, Femoral hernia, Short thorax, Abnormal rib morphology, Disproportionate sho... |
ORPHA:93298 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Microvesicular hepatic steatosi... |
OMIM:619418 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Telecanthus, Jaundice, Neonatal death, Elevated circulating glutaric acid concentra... |
OMIM:231680 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:608594 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary... |
ORPHA:2298 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia |
ORPHA:1163 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin... |
ORPHA:541423 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Death in childhood... |
OMIM:610333 |
Grant Syndrome |
|
Joint dislocation, Short stature, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel ... |
ORPHA:2097 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Hepatomegaly, Stillbirth, Decreased liver function, Death in childhood, Neonata... |
OMIM:614922 |
C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormal eyebrow morphology, Short stature, Absent eyelashes... |
ORPHA:90153 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ectropion |
OMIM:275630 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Arthrogryposis multiplex congenita, Prenatal death, Camptodactyly |
OMIM:618393 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,... |
OMIM:261680 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... |
OMIM:208900 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen... |
OMIM:610377 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Abnormal dental enamel morphology, Lipoatrophy, Splenomegaly, Upslan... |
ORPHA:1133 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Abn... |
ORPHA:298 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue |
ORPHA:71529 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Short stature, Synophrys, Upslanted palpebral fissure, Delayed puberty, Hyp... |
ORPHA:819 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Ch... |
OMIM:608104 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hepatomegaly, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Hyp... |
ORPHA:1194 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Epicanthus, Short stature, Upslanted palpebral fissure, Intrauterine growth retarda... |
ORPHA:50812 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Abnormality o... |
ORPHA:1836 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Cryptorchidism, Jaund... |
OMIM:214110 |
Fetal Gaucher Disease |
|
Death in infancy, Hepatomegaly, Abnormality of the spleen, Splenomegaly, Flexion contracture, Sti... |
ORPHA:85212 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Very long chain fatty acid accumulation,... |
OMIM:261515 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... |
ORPHA:449395 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Splenomegaly, Abnormal rib morphology, Upslanted palpebral fissure, Intrauterine gro... |
ORPHA:3035 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology |
ORPHA:1506 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hypertension, Sparse ey... |
ORPHA:59303 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis |
OMIM:615996 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Pectus excavatum, Hyperhomocystinemia, Pectus carinatum, Hypermethioninemia, Hep... |
OMIM:236200 |
Mogs-Cdg |
|
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... |
ORPHA:79330 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ... |
ORPHA:254534 |
Cimdag Syndrome |
|
Death in early adulthood, Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogona... |
OMIM:619273 |
Cog1-Cdg |
|
Rhizomelia, Postnatal growth retardation, Rib fusion, Posterior rib gap, Flat acetabular roof, He... |
ORPHA:263508 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Epicanthus, Short stature, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi... |
OMIM:618440 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Renpenning Syndrome |
|
Epicanthus, Severe short stature, Pectus excavatum, Abnormal rib morphology, Growth delay, Upslan... |
ORPHA:3242 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... |
OMIM:256810 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Short stature, Hyperlipidemia, Generalized lipod... |
ORPHA:90154 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Achilles tendon c... |
OMIM:616263 |
Megalocornea-Intellectual Disability Syndrome |
|
Epicanthus, Short stature, Hypercholesterolemia, Downslanted palpebral fissures, Genu varum |
ORPHA:2479 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Rhizomelia, Short stature, Elevated circulating creatinine concent... |
OMIM:614376 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Epicanthus, Accessory spleen, Short stature, Hi... |
OMIM:194190 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Abnormal eyebrow morphology, Epicanthus, Short stature, Camptodactyly of finger... |
ORPHA:1606 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Arthrit... |
OMIM:210250 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function |
ORPHA:570422 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... |
OMIM:226300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Flexion contracture |
OMIM:612138 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Failure to thrive |
OMIM:242500 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... |
ORPHA:449563 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short stature, Limited elbow movement, Missing ribs, Cryptorchidism, Humeroradia... |
OMIM:134780 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Osteoarthritis, Hyperuricemia |
ORPHA:77296 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Rib f... |
OMIM:157800 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Cryptorchidism, Abnormal rib morphology, Pectus carinatum, Upslanted palpebral fis... |
ORPHA:3082 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Thoracic scoliosis, Premature ovarian in... |
ORPHA:2959 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Growth delay, Umbilical hernia, Prolonged neonatal jaundice, Macroorchidism, Hypercholesterolemia... |
ORPHA:90674 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S... |
OMIM:619381 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Nephrotic Syndrome, Type 1 |
|
Growth delay, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Abnormal rib morphology, Decreased fertility, Hypogonadism, Abnormality of the hum... |
ORPHA:2234 |
Nemaline Myopathy 10 |
|
Neonatal death, Death in infancy, Congenital contracture, Flexion contracture |
OMIM:616165 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Short stature, Miscarriage, Highly arched eyebrow, Postnat... |
OMIM:619695 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... |
ORPHA:293978 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Increased circulating IgG4... |
ORPHA:64744 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Hepatomegaly, Upslanted palpebral fissure, Increased circulating very long-chai... |
OMIM:614862 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Rhizomelia, Abnormal rib morphology, Narrow chest |
ORPHA:93267 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile d... |
ORPHA:363618 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentrat... |
OMIM:619423 |
Hypophosphatasia |
|
Short stature, Hypercalcemia, Craniosynostosis, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Pectus excavatum, Abnormal rib morphology, Fused cer... |
ORPHA:2522 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Abnormal rib morphology, Disproportionate short-limb short statu... |
ORPHA:2772 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... |
OMIM:619487 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Splenomegaly, Synophrys, Umbilical hernia |
OMIM:252900 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Epicanthus, Inguinal hernia, Pectus excavatum, Postnatal growth retardation, Flexion... |
ORPHA:254528 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis |
OMIM:231530 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Epicanthus, Severe short stature, Short stature, Limited elbow movement, Sa... |
OMIM:218600 |
Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... |
ORPHA:330015 |
Mednik Syndrome |
|
Death in infancy, Cholestasis, Growth delay, Upslanted palpebral fissure, Hepatic fibrosis, Incre... |
OMIM:609313 |
Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Narrow chest |
ORPHA:2635 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:620265 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... |
ORPHA:781 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, P... |
ORPHA:93351 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla... |
OMIM:244460 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy |
OMIM:617184 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce... |
ORPHA:98863 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta... |
OMIM:609981 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Abnormal rib morpholog... |
ORPHA:2021 |
Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce... |
ORPHA:98853 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Inguinal hernia |
OMIM:619602 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Intrauterine growth retardation, Hyperammonemia, Death in infancy |
OMIM:610678 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Gout, Xanthelasma, ... |
OMIM:232240 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:277460 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Abnormal rib morphology, Short stature |
ORPHA:2578 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil... |
OMIM:211600 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... |
ORPHA:14 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal rib morphology |
ORPHA:2790 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:212138 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension... |
ORPHA:465508 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... |
ORPHA:125 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Camptodactyly of finger, Elbow dislocation, Cryp... |
ORPHA:628 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Delayed closure of t... |
OMIM:614887 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... |
ORPHA:99867 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Hyperlipidemia, Disproportionate short-trunk short stature, Growth delay, Intraute... |
ORPHA:1830 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation |
OMIM:618541 |
Phaver Syndrome |
|
Epicanthus, Camptodactyly of finger, Abnormal rib morphology, Radioulnar synostosis, Intrauterine... |
ORPHA:2876 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Death in infancy, Epicanthus, Hepatomegaly, Elevated circulating c... |
OMIM:614576 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... |
ORPHA:77261 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, L... |
OMIM:616294 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Very long chain... |
ORPHA:98908 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Scapular winging, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase conce... |
ORPHA:98855 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubine... |
OMIM:266200 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... |
OMIM:210900 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I... |
ORPHA:183675 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated... |
OMIM:617253 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib... |
ORPHA:1834 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Small for gestational age |
OMIM:610498 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Splenomegaly, Flexion contracture, Th... |
OMIM:608149 |
Adrenomyodystrophy |
|
Hepatic steatosis, Short stature |
ORPHA:977 |
Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Neonatal death |
OMIM:618810 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Hyper... |
ORPHA:77293 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614034 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy... |
OMIM:235555 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Abnormal rib morph... |
OMIM:118450 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Hypoplasia of eyelid, Flexion contracture, Genu valgum, Hypoplasia of the ovary, A... |
OMIM:619321 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Abnormal rib morphology, Pectus carinatum, Downslan... |
ORPHA:3068 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Intrauterine growth retardation, Abnormal rib morphology, Short stature |
ORPHA:2145 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Severe short stature, Thickened ribs, Inguinal hernia, Splenomega... |
OMIM:230500 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Short stature, Missing ribs, Cryptorchidism, Rib fusion, Umbilical hernia |
ORPHA:97360 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... |
OMIM:301074 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Death in infancy, Ascites, Portal vein hypoplasia, Hepatomegaly |
OMIM:619433 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal r... |
ORPHA:1488 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Abnormal thorax morpho... |
ORPHA:73230 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Growth delay, Death in childhood, Neonatal death, Intrauterine growth retardati... |
OMIM:245400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancr... |
ORPHA:1655 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Synophrys |
OMIM:252920 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... |
OMIM:242840 |
Xylt1-Cdg |
|
Joint dislocation, Hepatomegaly, Short stature, Synophrys, Growth delay, Short clavicles, Broad ribs |
ORPHA:370930 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Epicanthus, Short stature, Elevated circulating creatine kinase concentration, Sple... |
OMIM:611881 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... |
ORPHA:348 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Epicanthus, Camptodactyly of finger, Delayed closure of the anterior fontanelle... |
OMIM:607872 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Hyponatremia, Death in infancy, Short stature, Abnormal dental enamel morphology, ... |
ORPHA:534 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Bilateral crypto... |
ORPHA:66634 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
H Syndrome |
|
Abnormal eyebrow morphology, Hypertriglyceridemia, Short stature, Lipodystrophy, Upper eyelid ede... |
ORPHA:168569 |
Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Hepatomegaly, Short stature, Anterior rib cupping, Exocrine pancreatic insuffic... |
OMIM:617941 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Sagittal craniosynostosis, P... |
OMIM:610199 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... |
ORPHA:227990 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Short stature, Portal hypertension, Pectus excava... |
OMIM:613658 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intrauterine growth retardation |
OMIM:614602 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Intrauterine growth retardation |
OMIM:619003 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Splenomegaly, Synophrys, Hernia |
OMIM:252930 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Epicanthus, Proportionate short stature, Sagittal craniosynostosis, Sparse ey... |
ORPHA:500150 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Decreased circulatin... |
OMIM:615688 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Epicanthus, Severe short stature, Short stature, Spatulate ribs, Pectus excavatum, ... |
OMIM:253220 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormal rib morphology, Short stature |
OMIM:601076 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m... |
ORPHA:367 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, E... |
ORPHA:699 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Microvesicular hepatic steatosis, Death in child... |
OMIM:611126 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Thin ribs, Hypocalcemia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... |
ORPHA:51636 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis |
OMIM:616271 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Cole-Carpenter Syndrome |
|
Short stature, Abnormal dental enamel morphology, Abnormal rib morphology, Wormian bones, Intraut... |
ORPHA:2050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Epicanthus, Hypoplastic scapulae, Inguinal hernia, Splenomegaly, Short... |
OMIM:269860 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:615356 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Postnatal growth retardation, Bilat... |
ORPHA:293843 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Hepatomegaly, Conjugated h... |
OMIM:613404 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum... |
OMIM:224690 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Narrow chest, Hepatomegaly, Short stature, Rhizomelia, Sparse eye... |
OMIM:613610 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Decreased proportion of CD4-positive helper T cells,... |
ORPHA:289390 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level... |
ORPHA:85443 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat... |
ORPHA:99228 |
Monosomy X |
|
Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat... |
ORPHA:99226 |
Turner Syndrome |
|
Enlarged thorax, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficiency, Short stat... |
ORPHA:881 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Short stature, Pancreatic fibrosis, Lateral clavicle ... |
OMIM:208500 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati... |
ORPHA:227982 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol... |
OMIM:607626 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Congenital hip dislocation, Limb joint contracture, ... |
ORPHA:404454 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
Alagille Syndrome |
|
Hepatomegaly, Cryptorchidism, Abnormal rib morphology, Cholestasis, Reduced number of intrahepati... |
ORPHA:52 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Crypt... |
OMIM:235255 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
White Forelock With Malformations |
|
Epicanthus, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Abnormal rib morphology, Narrow chest, Hernia, Intra... |
ORPHA:3378 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Gout, Hyperproteinemia, Increased circulating renin level, Hy... |
ORPHA:90041 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Ogden Syndrome |
|
Congenital hip dislocation, Abnormal eyelid morphology, Cardiomegaly, Microvesicular hepatic stea... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Joint contracture of the 5th finger, Intrauterine growth retardation, Hepatic steatos... |
OMIM:619934 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Disproportionate sho... |
OMIM:253000 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Synophrys, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibros... |
OMIM:606003 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Arthrogryposis multiplex congenita, Death in childhood, Death in infancy |
OMIM:619334 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Anterior rib cupping, Enlargement of ... |
OMIM:260400 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short stature, Rhizomelia, Thin ribs... |
OMIM:613848 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Hepatomegaly, Short stature, Camptodactyly of fin... |
ORPHA:93473 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Joint swelling... |
OMIM:612852 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Death in infancy, Miscarriage, Short stature |
OMIM:613390 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l... |
ORPHA:83617 |
Mucolipidosis Iii Alpha/Beta |
|
Short stature, Increased serum beta-hexosaminidase, Craniosynostosis, Irregular carpal bones, Sho... |
OMIM:252600 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Death in childhood, Hepa... |
OMIM:602579 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Ventral hernia, Thoracic scoliosis, Hypertriglyceridemia, Widened atrophic sca... |
ORPHA:536532 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Severe short stature, Inguinal hernia, Camptodactyly of finger, Pectus e... |
ORPHA:2215 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia |
ORPHA:90065 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Flexion contracture, Growth ... |
ORPHA:17 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Pallister-Hall Syndrome |
|
Inguinal hernia, Short stature, Cryptorchidism, Radial head subluxation, Rib fusion, Hip dislocat... |
ORPHA:672 |
Cenani-Lenz Syndrome |
|
Ptosis, Ectropion, Abnormal dental enamel morphology, Elbow dislocation, Abnormal rib morphology,... |
ORPHA:3258 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Hepatic fibrosis, Neonatal deat... |
OMIM:619534 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Cryptorchidism, Abnorm... |
ORPHA:1647 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hepatomegaly, Short stature, Reduced pancreatic beta cells, Irregular carpal... |
OMIM:226980 |
Campomelia, Cumming Type |
|
Death in infancy, Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Abnormal thorax mo... |
ORPHA:1318 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Melnick-Needles Syndrome |
|
Omphalocele, Short stature, Short thorax, Abnormal rib morphology, Hip dislocation, Narrow chest,... |
ORPHA:2484 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Short stature, Premature ovarian insufficiency, Lipoatrophy, Abnormal thora... |
ORPHA:79474 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Joint swelling... |
ORPHA:85414 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... |
ORPHA:420741 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Cardiomegaly, Death in childhood, Hepatomegaly, Thoracolumba... |
OMIM:252500 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... |
ORPHA:1667 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contra... |
OMIM:300868 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short stature, Abnormal dental enamel morphology, Grayish enamel, Short thorax... |
ORPHA:582 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Copper accumulation in liver, Growth delay, Death in childhood, Increased hepat... |
OMIM:614946 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal rib morphology, Short stature |
ORPHA:1486 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Cryptorchidism, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Greenberg Dysplasia |
|
Beaded ribs, Narrow chest, Neonatal death, Barrel-shaped chest, Hepatomegaly, Sternal punctate ca... |
OMIM:215140 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Small for gestational age, Growth delay, Death in childhood, Neonatal death, Umb... |
OMIM:614052 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:445038 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia,... |
OMIM:619471 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... |
OMIM:181000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Death in child... |
OMIM:220110 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... |
ORPHA:391487 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I... |
ORPHA:565612 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Small for gestational age |
OMIM:227270 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... |
OMIM:207800 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Hyperlipidemia, Hydrocele testis, Hypoalbuminemia, Ascites |
ORPHA:567546 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Ptosis |
ORPHA:436271 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... |
OMIM:619377 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Epicanthus, Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Hip disl... |
OMIM:270400 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased circulating ferritin concen... |
OMIM:194380 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss of eyelashes, Corneal s... |
OMIM:263700 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C... |
OMIM:124000 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia |
OMIM:210200 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Asplenia, Posterior rib fusion, Neonatal death, Annular pancreas, Right ventricular ... |
OMIM:265380 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Arthrogryposis multiplex congenita, Stillbirth, Hydranencephaly |
OMIM:236500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Downslanted palpebral fissure... |
ORPHA:83 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Pectus carinatum, Wrist flexion contracture, ... |
ORPHA:800 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Obesity |
ORPHA:254525 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver... |
OMIM:618329 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Streak ovary, Hyperlipidemia, Growth delay, Abnormal spermatogen... |
ORPHA:3464 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Short thor... |
ORPHA:261344 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Splenomegaly, Bell-shaped thorax, Disproportionate short-limb short stature, Short ... |
OMIM:602557 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Werner Syndrome |
|
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Elevated circulating aspartate amin... |
OMIM:277700 |
Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pancreas, Abnorm... |
ORPHA:887 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
Holzgreve Syndrome |
|
Intrauterine growth retardation, Abnormal mesentery morphology, Abnormal rib morphology |
ORPHA:2167 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology |
ORPHA:93941 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Epicanthus, Pancreatic fibrosis, Craniosynostosis, Upslanted palpebral... |
OMIM:200995 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Thin ribs, Short sternum, Short ribs, Hypoplastic acetabulae, Intrauterine growth r... |
OMIM:620076 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... |
ORPHA:2970 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Fetal ascites, Synophrys, Multiple joint dislocation, Flexion contr... |
OMIM:619503 |
Myhre Syndrome |
|
Inguinal hernia, Severe short stature, Femoral hernia, Cryptorchidism, Abnormal rib morphology, H... |
ORPHA:2588 |
Arima Syndrome |
|
Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Ptosis |
OMIM:243910 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal rib morphology, Abnormal dental enamel morphology |
ORPHA:2180 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Ptosis |
OMIM:617575 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture, Narrow chest, Hepatoblastoma, Hepatomegaly, Short stature, Interphalangeal j... |
ORPHA:96334 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepat... |
ORPHA:746 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Lymphatic Malformation 12 |
|
Neonatal death, Inguinal hernia, Death in adolescence |
OMIM:620014 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L... |
ORPHA:99826 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Entropion, Short stature, Camptodactyly of finger, Hypertrig... |
ORPHA:3455 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroi... |
ORPHA:89936 |
Transketolase Deficiency |
|
Hepatomegaly, Proportionate short stature, Secondary amenorrhea, Conjunctivitis, Elevated circula... |
ORPHA:488618 |
Fabry Disease |
|
Conjunctival telangiectasia, Short stature, Hyperlipidemia, Arthritis, Delayed puberty, Left vent... |
ORPHA:324 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Abnormal rib morphology, ... |
ORPHA:392 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Epicanthus, Rhizomelia, Flaring of lower rib cage, Sparse eyebrow, Abnormality of t... |
ORPHA:175 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Flexion contracture, Narrow chest, Abnormality of the wrist... |
ORPHA:95699 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Death in adolescence, Death in childhood, Neonatal d... |
OMIM:619055 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Boomerang Dysplasia |
|
Neonatal death, Severe short stature |
OMIM:112310 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Epicanthus, Telecanthus, Rhizomelia, Inguinal hernia, Sagittal craniosynostosis, Ma... |
OMIM:218330 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Severe short stature, Disproportionate short-limb short ... |
OMIM:224410 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
Abcd Syndrome |
|
Neonatal death, Large for gestational age |
OMIM:600501 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Short stature, Hypophosphatemia |
OMIM:616026 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Retinal hamartoma, Cryptorchidism, Congenital di... |
ORPHA:2911 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level... |
ORPHA:355 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Hyperbilirubinemia, Prolonged neon... |
OMIM:224120 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Trisomy 18 |
|
Omphalocele, Epicanthus, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:1120 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita |
OMIM:253310 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Aplasia of the epiglottis, Short ribs, Nar... |
OMIM:617088 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Death in infancy |
OMIM:618835 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Broad eyebrow, Palpebral edema, Abnormal abdomen morphology, Synop... |
OMIM:619475 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Death in infancy |
OMIM:618839 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Abnormal dental enamel morphology, A... |
ORPHA:1452 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology... |
ORPHA:96061 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary... |
ORPHA:66628 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Nonketotic hyperglycinemia, Ankyloblepharon, Popliteal p... |
ORPHA:1300 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated ci... |
OMIM:276700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Bilateral ptosis, Decreased fertil... |
ORPHA:273 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Epicanthus, Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Digeorge Syndrome |
|
Inguinal hernia, Short stature, Femoral hernia, Splenomegaly, Hydrocele testis, Umbilical hernia,... |
OMIM:188400 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia of the ovary... |
ORPHA:179494 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Death in infancy, Short stature, Congenital diaphragma... |
ORPHA:991 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Narrow chest, Genu varum, Absent eyebrow, Short stature, Absent eyelashes, S... |
OMIM:264090 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Epicanthus, Congenital hip dislocation, Death in infancy, Camptoda... |
ORPHA:373 |
Postinfectious Vasculitis |
|
Viral hepatitis, Increased circulating IgA level, Abnormality of humoral immunity, Increased circ... |
ORPHA:48435 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Postnatal growth retardation, Cryptorchidism, Umbilical hernia, Shall... |
ORPHA:96191 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Afibrinogenemia, Congenital |
|
Neonatal death, Death in infancy, Death in adolescence, Death in childhood |
OMIM:202400 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Rhizomelia, Short stature, Abnormal dental enamel morphology, Congenital diaphragmati... |
ORPHA:818 |
Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Ab... |
ORPHA:261112 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Ectr... |
ORPHA:31150 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Xp21 Deletion Syndrome |
|
Growth delay, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Abnormal rib morpholo... |
ORPHA:90652 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Hyperuricemia, Thick... |
ORPHA:2769 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Growth delay, Hypocalcemia... |
ORPHA:667 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcem... |
OMIM:618183 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperkalemia, Delayed... |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Failure to thrive |
OMIM:265120 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Short stature, Hypercalcemia, Testicular neoplasm, Abnormal rib mor... |
ORPHA:249 |
Monosomy 9Q22.3 |
|
Epicanthus, Pectus excavatum, Abnormal rib morphology, Metopic synostosis, Umbilical hernia, Down... |
ORPHA:77301 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca... |
ORPHA:2554 |
Alström Syndrome |
|
Thoracic scoliosis, Hypoplasia of the Leydig cells, Hepatic fibrosis, Hepatic steatosis, Hepatome... |
ORPHA:64 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of the spleen, Abnormal rib morphology, Abnormality of ab... |
ORPHA:1666 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Synophry... |
ORPHA:581 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Gro... |
OMIM:307030 |
Osteogenesis Imperfecta |
|
Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Dislocated radial head, Shor... |
ORPHA:666 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Inguinal hernia, Highly arched eyebrow, Microvesicular hepatic steatosis, Hyper... |
OMIM:220111 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Disproportionate short stature, Abnormal rib morphology, Rhizomelic ... |
ORPHA:93317 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Camptodactyly of finger, Abnormal rib morphology, Keratoconjunctivitis, Ectropion |
ORPHA:2907 |
Radio-Renal Syndrome |
|
Abnormality of the elbow, Severe short stature, Abnormal rib morphology |
ORPHA:3015 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Death in childhood, Hepatomegaly, ... |
OMIM:243800 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:167 |
Charge Syndrome |
|
Epicanthus, Short stature, Hypogonadotropic hypogonadism, Highly arched eyebrow, Postnatal growth... |
ORPHA:138 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth... |
OMIM:256520 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Abnormal rib morphology, Symblepharon, Thick eyebrow |
ORPHA:488434 |
Ulbright-Hodes Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Humeroradial synostosis, Abnormal rib morphology, T... |
ORPHA:3404 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contracture, Abnormal rib mor... |
ORPHA:2908 |
Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Stillbirth, Aplasia of the left hemidiaphra... |
OMIM:608978 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Flexion contracture, Hydropic placenta, Stillbirth, Short umbilical cord,... |
OMIM:275210 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Death in infancy, Failure to thrive, Growth delay |
OMIM:617248 |
Charge Syndrome |
|
Omphalocele, Hypogonadotropic hypogonadism, Down-sloping shoulders, Postnatal growth retardation,... |
OMIM:214800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death |
OMIM:619362 |
Vater/Vacterl Association |
|
Postnatal growth retardation, Abnormal rib morphology, Abnormal sternum morphology, Radioulnar sy... |
OMIM:192350 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death |
OMIM:615709 |
Townes-Brocks Syndrome |
|
Short stature, Blepharophimosis, Cryptorchidism, Abnormal rib morphology, Delayed puberty, Limbal... |
ORPHA:857 |