Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency 18 |
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Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Thrombocytopenia, Cyclic |
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Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Diamond-Blackfan Anemia 18 |
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Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
46,Xy Sex Reversal 3 |
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Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... |
OMIM:614837 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Immunodeficiency 24 |
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Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Lymphopenia, Neutropenia |
OMIM:614868 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Satoyoshi Syndrome |
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Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... |
ORPHA:3130 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... |
ORPHA:1916 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Testicular Agenesis |
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Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... |
OMIM:612964 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Abnormal rib morphology, ... |
OMIM:601076 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Amed Syndrome, Digenic |
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Hypoplasia of the uterus, Leukopenia, Long thumb, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:619151 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus |
OMIM:618078 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Ovarian Dysgenesis 2 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Hypoplasia of the uterus, S... |
OMIM:609441 |
Trimethylaminuria |
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Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... |
ORPHA:859 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... |
OMIM:619203 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... |
OMIM:619665 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Perrault Syndrome 3 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Brachydactyly, Osteolytic defects of the phalanges of the hand, Genu va... |
OMIM:600705 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... |
OMIM:273250 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Sternum, Premature Obliteration Of Sutures Of |
|
Cryptorchidism, Short sternum |
OMIM:184800 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Hip dysplasia, Clinodactyly, Abnormal carpal morphology |
OMIM:614851 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:614470 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... |
ORPHA:755 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Gracile Bone Dysplasia |
|
Thin ribs, Micropenis, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, A... |
OMIM:602361 |
Kennerknecht syndrome |
|
Hypoplasia of the uterus, Toe clinodactyly, Agonadism, Acetabular dysplasia, Toe syndactyly |
OMIM:600908 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Female hypogonadism, Hypogonadotro... |
ORPHA:432 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Müllerian Aplasia And Hyperandrogenism |
|
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... |
OMIM:617056 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Hypoplasia of the uterus, Breast hypoplasia, Increased circulati... |
ORPHA:785 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the uterus, Hypoplasia of the vagina, Long penis, Cong... |
OMIM:202010 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Renal hypoplasia, Horseshoe k... |
OMIM:601186 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Small scrotum, Bifid scrotum, Hypoplasia of the vagina, Cutaneous finge... |
OMIM:119500 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferen... |
OMIM:137920 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Mirage Syndrome |
|
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Radial club... |
OMIM:617053 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... |
ORPHA:91547 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:99429 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... |
OMIM:619644 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... |
OMIM:617575 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Coffin-Siris Syndrome 9 |
|
Short distal phalanx of finger, Hypoplasia of the uterus, Decreased response to growth hormone st... |
OMIM:615866 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Immunodeficiency 36 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... |
OMIM:616005 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Lumbar Syndrome |
|
Micropenis, Bifid scrotum, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... |
ORPHA:83628 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Abnormal B ce... |
ORPHA:331206 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... |
ORPHA:54251 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Adducted thumb, Hypoplastic spleen, Rocker bottom foot |
ORPHA:89844 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... |
OMIM:146255 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu... |
ORPHA:829 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1930 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Missing ribs, Hyd... |
OMIM:271520 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating gonadotropin level, Precocious puberty in females, Adrenocorticotropic horm... |
ORPHA:90793 |
Oeis Complex |
|
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Streak ovary, Mi... |
ORPHA:3464 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati... |
OMIM:617099 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly |
ORPHA:169160 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Horseshoe kidney,... |
OMIM:274000 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Abnormally low T cell receptor ... |
ORPHA:276 |
Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... |
ORPHA:2879 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Per... |
OMIM:618935 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... |
ORPHA:2237 |
Primary Intestinal Lymphangiectasia |
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Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Schinzel-Giedion Midface Retraction Syndrome |
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Short sternum, Hepatoblastoma, Short 1st metacarpal, Splenopancreatic fusion, Broad ribs, Hypopla... |
OMIM:269150 |
Avian Influenza |
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Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:168558 |
Immunodeficiency 49 |
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Eosinophilia, Lymphopenia |
OMIM:617237 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... |
ORPHA:289548 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... |
ORPHA:3109 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypoplasia of the radius, Femoral bowing, Broad ribs, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... |
OMIM:612852 |
Schimke Immuno-Osseous Dysplasia |
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Hyperlipidemia, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal proportion of nai... |
ORPHA:1830 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:36238 |
Peters-Plus Syndrome |
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Clitoral hypoplasia, Biliary tract abnormality, Square pelvis bone, Hypoplastic labia majora, Hyp... |
OMIM:261540 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:616100 |
Chromosome 17Q12 Deletion Syndrome |
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Long toe, Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Upper limb under... |
OMIM:614527 |
Schimke Immunoosseous Dysplasia |
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Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... |
OMIM:242900 |
Renal Dysplasia-Limb Defects Syndrome |
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Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... |
OMIM:266910 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
Immunodeficiency 55 |
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Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Aplasia of the thymus, Seve... |
OMIM:102700 |
Meckel Syndrome 14 |
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Postaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Ambiguous genitalia, Polycystic ki... |
OMIM:619879 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... |
ORPHA:572333 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia |
OMIM:617466 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... |
OMIM:615934 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Anemia, Thrombocytopenia |
OMIM:617591 |
Familial Mediterranean Fever |
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Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated... |
OMIM:249100 |
Icf Syndrome |
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Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegal... |
OMIM:612541 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Peters Plus Syndrome |
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Short toe, Hypoplasia of the uterus, Clinodactyly of the 5th finger, Hypospadias, Multicystic kid... |
ORPHA:709 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Sweet Syndrome |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Sterile absces... |
ORPHA:3243 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Abnormal external genitalia, Sho... |
ORPHA:3404 |
Pearson Syndrome |
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Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Proteinuria, Hypoplastic spleen, Pan... |
ORPHA:699 |
Immunodeficiency 23 |
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Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Hemolytic anemia, N... |
OMIM:615816 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Townes-Brocks Syndrome 1 |
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Bifid uterus, Rectoperineal fistula, 3-4 finger syndactyly, Rectovaginal fistula, Vesicoureteral ... |
OMIM:107480 |
Cardiac-Urogenital Syndrome |
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2-3 toe syndactyly, Micropenis, Bifid scrotum, Unilateral cryptorchidism, Accessory spleen, Hepat... |
OMIM:618280 |
Limb-Mammary Syndrome |
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Absent nipple, Clinodactyly of the 5th finger, Bilateral breast hypoplasia, 3-4 finger cutaneous ... |
ORPHA:69085 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
Fanconi Anemia, Complementation Group L |
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Absent thumb, Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Bon... |
OMIM:614083 |
Exstrophy-Epispadias Complex |
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Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Premature f... |
ORPHA:90794 |
Ataxia-Telangiectasia |
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Lymphopenia, Elevated alpha-fetoprotein, Hypoplasia of the thymus, T lymphocytopenia, Acute lymph... |
OMIM:208900 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... |
OMIM:301000 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, A... |
ORPHA:457284 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Proximal tibial hypoplas... |
OMIM:236680 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Supernumerary nipple, Unilateral brachydactyly, Bifid uterus, Syndactyly, Abnormal reproductive s... |
ORPHA:1521 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Coffin-Lowry Syndrome |
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Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... |
OMIM:303600 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia |
OMIM:127550 |
Marburg Hemorrhagic Fever |
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Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Wolf-Hirschhorn Syndrome |
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Rib fusion, Precocious puberty, Split hand, Hypospadias, Accessory spleen, Short hallux, Short th... |
OMIM:194190 |
Pontocerebellar Hypoplasia Type 7 |
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Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Nephropathy, Hemolytic ane... |
ORPHA:906 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphocytes, Decre... |
OMIM:600903 |
Hyper-Igd Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... |
OMIM:260920 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Immunodeficiency 87 And Autoimmunity |
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Hypokalemia, Lymphopenia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Th... |
OMIM:619573 |
Syndromic Diarrhea |
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Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume... |
ORPHA:84064 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Yellow Fever |
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Neutrophilia, Leukocytosis, Hyperbilirubinemia, Pancreatic hyperplasia, Elevated circulating crea... |
ORPHA:99829 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole... |
ORPHA:90363 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
ORPHA:1572 |
Coffin-Siris Syndrome 1 |
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Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, Short distal phalanx of th... |
OMIM:135900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Finger joint hypermobility, Foot ac... |
OMIM:130050 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Camptodactyly, Clinodactyly, Rocker bottom foot, Radial deviation of finger, Calcan... |
OMIM:256520 |
Okamoto Syndrome |
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Splenomegaly, Bifid uterus, Polydactyly, Ureteropelvic junction obstruction, Hydronephrosis, Unil... |
ORPHA:2729 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Elevated circulating creatine... |
ORPHA:99827 |
Pallister-Killian Syndrome |
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Labial hypoplasia, Congenital hip dislocation, 11 pairs of ribs, Aplasia of the upper vagina, Hyp... |
OMIM:601803 |
Loeys-Dietz Syndrome |
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Arachnodactyly, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Bladder diverticulum, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Congenital hip d... |
ORPHA:286 |
Norrie Disease |
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Cryptorchidism, Uterine rupture |
ORPHA:649 |