Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Lipoid Congenital Adrenal Hyperplasia |
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Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
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Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hyperaldosteronism, Familial, Type I |
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Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency 15B |
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Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Autoimmune Polyendocrinopathy Type 1 |
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Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... |
OMIM:615830 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Hyperaldosteronism, Familial, Type Iii |
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Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Hydrocele testis, Slender long bone, Congenital adrenal hyperplasia, Increased serum testosterone... |
ORPHA:96181 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Kimura Disease |
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Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt... |
OMIM:612541 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Leydig Cell Hypoplasia |
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Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Burkitt Lymphoma |
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Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Amed Syndrome, Digenic |
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Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Immunodeficiency 32A |
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Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Premature Ovarian Failure 7 |
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Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... |
ORPHA:276 |
Partial Androgen Insensitivity Syndrome |
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Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Complete Androgen Insensitivity Syndrome |
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Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Renal And Mullerian Duct Hypoplasia |
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Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Mullerian Aplasia And Hyperandrogenism |
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Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Hydatidiform Mole |
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Enlarged uterus, Anemia |
ORPHA:99927 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... |
OMIM:146255 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... |
ORPHA:54251 |
Doors Syndrome |
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11 pairs of ribs, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnorm... |
ORPHA:79500 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... |
ORPHA:99889 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... |
ORPHA:2237 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... |
ORPHA:289548 |
Agammaglobulinemia, X-Linked |
|
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... |
OMIM:300755 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... |
ORPHA:3130 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... |
OMIM:236680 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia |
OMIM:616258 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... |
OMIM:601186 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... |
OMIM:614527 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney |
ORPHA:3320 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia... |
ORPHA:322 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... |
OMIM:618419 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... |
ORPHA:90794 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... |
OMIM:618280 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Eosinophilia, Pancreatic cysts, Leukocytosis, Horseshoe kidney, Hepatosplen... |
OMIM:274000 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplastic pelvis |
OMIM:273395 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc... |
ORPHA:2729 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus... |
OMIM:135900 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m... |
OMIM:601803 |