Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... |
ORPHA:318 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
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 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Transcobalamin Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Megaloblastic bone marrow, Decreased circulating a... |
ORPHA:859 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Pancytopenia, Elevated circulating thyroid-stimulating hormone con... |
OMIM:617872 |
Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Cervical intraepithelia... |
OMIM:614172 |
Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia |
OMIM:614743 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... |
OMIM:227650 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Absent circulating B cells, Decreased circulating IgG level, Complete... |
OMIM:620282 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, Hemophagocytosis |
OMIM:300635 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Prolonged G2 phas... |
OMIM:600901 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter |
OMIM:210740 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Micropenis... |
OMIM:606593 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Lig4 Syndrome |
|
Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Type II diabetes... |
ORPHA:99812 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... |
ORPHA:562 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Prolonged G2 phas... |
OMIM:227645 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:613990 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leuko... |
ORPHA:824 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Hypothyroidism |
ORPHA:85321 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia |
OMIM:614742 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Type I diabetes mellitus, Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Hemophagocytosis, Hepatosplenomegaly |
OMIM:619858 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... |
ORPHA:507 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Anemia |
OMIM:613951 |
Fanconi-Like Syndrome |
|
Pancytopenia |
OMIM:227850 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... |
OMIM:613011 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Thrombocytopenia, Elevated... |
OMIM:242900 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... |
OMIM:615122 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Pancytopenia, Hypospadias, Anemia |
OMIM:620331 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Annular pancreas,... |
OMIM:227646 |
Transaldolase Deficiency |
|
Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia |
OMIM:606003 |
Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Leukope... |
ORPHA:520 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone... |
ORPHA:101096 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Martin-Probst Syndrome |
|
Bifid scrotum, Pancytopenia, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroi... |
OMIM:300519 |
Seckel Syndrome 1 |
|
Cryptorchidism, Pancytopenia, Hypospadias, Clitoral hypertrophy |
OMIM:210600 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Anemia |
OMIM:607426 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr... |
OMIM:275350 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Hypogonadism, Micropenis, Thrombocytopenia |
OMIM:300514 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Fetal Gaucher Disease |
|
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
Propionic Acidemia |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:606054 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Thrombocytopenia |
OMIM:613845 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Increased mean corpuscular volume, Ne... |
ORPHA:2169 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... |
OMIM:235200 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... |
ORPHA:77259 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Aplastic anemia,... |
ORPHA:811 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Hereditary Folate Malabsorption |
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Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Pancytopenia, Hypersplenism, Splenomegaly, Type I diabetes mellitus, Hypothyroidism, Hashimoto th... |
OMIM:613385 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
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Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Gaucher Disease, Type I |
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Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Osteopetrosis, Autosomal Recessive 1 |
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Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:259700 |
Woodhouse-Sakati Syndrome |
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Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Le... |
OMIM:305000 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Müllerian Aplasia And Hyperandrogenism |
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Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Methylmalonic Aciduria, Cblb Type |
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Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Pancytopenia, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, H... |
ORPHA:228426 |
Pearson Marrow-Pancreas Syndrome |
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Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... |
OMIM:557000 |
Testicular Agenesis |
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Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Livedoid Vasculopathy |
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Pancytopenia, Diabetes mellitus, Leukocytosis, Graves disease, Polycythemia, Anemia |
ORPHA:542643 |
Spondyloenchondrodysplasia |
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Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... |
ORPHA:1855 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... |
OMIM:615688 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Alpha-Mannosidosis, Adult Form |
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Pancytopenia, Hepatosplenomegaly |
ORPHA:309288 |
Rothmund-Thomson Syndrome Type 1 |
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Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Hypogonadism, Neutropenia, Leuk... |
ORPHA:221008 |
Osteopetrosis, Autosomal Recessive 5 |
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Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Methylmalonic Aciduria, Cbla Type |
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Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Pearson Syndrome |
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Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Dubowitz Syndrome |
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Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Decreased circulating... |
OMIM:223370 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Splenomegaly, Infertility, ... |
ORPHA:465508 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Azoo... |
ORPHA:2072 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Pancytopenia |
OMIM:618321 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... |
ORPHA:77261 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Secondar... |
ORPHA:2785 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Orchitis, Thrombocytopenia, Leukocytosis, Epididymitis, Splenomegaly,... |
ORPHA:99827 |
Rothmund-Thomson Syndrome Type 2 |
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Aplastic anemia, Cryptorchidism, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Degcags Syndrome |
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Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leu... |
OMIM:619488 |
Leopard Syndrome 1 |
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Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Hypot... |
OMIM:615846 |
Genitourinary And/Or Brain Malformation Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Rothmund-Thomson Syndrome |
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Aplastic anemia, Infertility, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
Fanconi Anemia, Complementation Group N |
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Aplastic anemia |
OMIM:610832 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Pancytopenia |
OMIM:231005 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Leukocytosis, Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Small scrotum, Bile duct proliferation, Anemia |
OMIM:613658 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Alpha-Mannosidosis, Infantile Form |
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Pancytopenia, Hepatosplenomegaly |
ORPHA:309282 |
Gaucher Disease |
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Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed puberty, Thromb... |
ORPHA:355 |
Revesz Syndrome |
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Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Increased... |
OMIM:181000 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Megaloblastic anemia |
OMIM:300322 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Bardet-Biedl Syndrome 1 |
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Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... |
OMIM:209900 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Chronic Graft Versus Host Disease |
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Pancytopenia, Abnormal vagina morphology, Phimosis |
ORPHA:99921 |
Alg9-Cdg |
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Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hypospadias, Myeloid leukemia, Central hypothyroidism, Micropenis, Annular pancreas |
ORPHA:798 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99413 |
Turner Syndrome |
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Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:881 |
Mosaic Monosomy X |
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Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
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Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99226 |