Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... |
ORPHA:261529 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility |
OMIM:615555 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... |
OMIM:612885 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... |
ORPHA:168563 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... |
OMIM:612964 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... |
OMIM:233420 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:616871 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Pandas |
|
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Dysphagia |
OMIM:613412 |
46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior |
ORPHA:208441 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... |
ORPHA:347 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... |
ORPHA:3411 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Breast hypopl... |
ORPHA:432 |
Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... |
ORPHA:99429 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc... |
ORPHA:251510 |
Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait |
OMIM:618092 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... |
OMIM:158330 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinoph... |
ORPHA:169160 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Anemia, Leukocytosis, Dysphagia |
ORPHA:2070 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:601859 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... |
ORPHA:3077 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... |
ORPHA:280356 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Hereditary Folate Malabsorption |
|
Anorexia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia |
ORPHA:90045 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis |
OMIM:619644 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... |
OMIM:300068 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology |
ORPHA:145 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Confusion, Myeloprolif... |
ORPHA:100924 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter, Female infertility |
OMIM:617577 |
Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... |
OMIM:278850 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia |
OMIM:615387 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Omenn Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia |
ORPHA:39041 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... |
ORPHA:911 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia |
OMIM:193670 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... |
ORPHA:325124 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... |
ORPHA:572333 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased response to growth hormone stimulatio... |
ORPHA:3464 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ... |
OMIM:268020 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... |
ORPHA:1772 |
Immunodeficiency 23 |
|
Ataxia, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... |
OMIM:602450 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
OMIM:615952 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary |
ORPHA:722 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Late-Onset Isolated Acth Deficiency |
|
Anorexia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Lethargy |
ORPHA:199299 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... |
ORPHA:90301 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... |
OMIM:146255 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... |
OMIM:620565 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:618986 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Dysphagia, Gait disturbance |
ORPHA:183 |
Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... |
OMIM:612541 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:435651 |
Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... |
OMIM:243700 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Memory impairment, Confusion, Myeloproliferative disorder, Leukocytosis, Neutrophilia, He... |
ORPHA:3260 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Confusion, Dysphagia, Mental deterioration |
ORPHA:449427 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... |
OMIM:604367 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Am... |
ORPHA:90795 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Depression, Confusion, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Immunodeficiency 27A |
|
Anorexia, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis, Histiocytosis |
OMIM:209950 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Inability to walk, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly |
OMIM:617388 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... |
OMIM:308240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:3261 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Incontinentia Pigmenti |
|
Attention deficit hyperactivity disorder, Eosinophilia, Gait disturbance, Cognitive impairment |
ORPHA:464 |
Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... |
ORPHA:435660 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... |
ORPHA:2686 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
Cystic Echinococcosis |
|
Eosinophilia, Peritoneal abscess, Abscess, Splenic cyst |
ORPHA:400 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
Kallmann Syndrome |
|
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of... |
ORPHA:478 |
Staphylococcal Necrotizing Pneumonia |
|
Confusion, Leukocytosis, Neutrophilia, Leukopenia, Addictive alcohol use, Lethargy |
ORPHA:36238 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
Alveolar Echinococcosis |
|
Liver abscess, Anemia, Abnormal spleen morphology, Ataxia, Eosinophilia, Cutaneous abscess |
ORPHA:284 |
Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma |
OMIM:617100 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Primary Myelofibrosis |
|
Anorexia, Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepat... |
ORPHA:824 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
Leopard Syndrome 1 |
|
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... |
OMIM:151100 |
Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Congenital Enterovirus Infection |
|
Irritability, Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia,... |
ORPHA:292 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis |
OMIM:308300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
Cushing Disease |
|
Dementia, Memory impairment, Depression, Decreased eosinophil count, Emotional lability, Leukocyt... |
ORPHA:96253 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... |
OMIM:209900 |
Coccidioidomycosis |
|
Cognitive impairment, Granuloma, Abnormality of the spleen, Eosinophilia, Abscess |
ORPHA:228123 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Ovarian ... |
OMIM:610475 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... |
ORPHA:64739 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... |
ORPHA:2237 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia |
OMIM:274000 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Abnormal testis morphology, Primary hypercortisolism, Precoci... |
ORPHA:562 |
Bardet-Biedl Syndrome |
|
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... |
ORPHA:110 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Micropenis, Decreased testicular size |
OMIM:619321 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
Diffuse Cutaneous Mastocytosis |
|
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen |
ORPHA:79456 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Dysphagia |
OMIM:147060 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Difficulty walking, Iron deficiency anemia, Neutropenia |
ORPHA:1667 |
Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... |
ORPHA:322 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma |
ORPHA:454840 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Sarcoidosis |
|
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia |
ORPHA:797 |
Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... |
OMIM:137920 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid... |
ORPHA:99226 |
Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
Igg4-Related Kidney Disease |
|
Eosinophilia |
ORPHA:449395 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus |
OMIM:615866 |
Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... |
ORPHA:906 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... |
ORPHA:1359 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Dementia, Memory impairment, Depression, Decreased eosinophil count, Emotional lability... |
ORPHA:99889 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
Kikuchi-Fujimoto Disease |
|
Anorexia, Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Neutropenia |
ORPHA:50918 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... |
OMIM:301074 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Hypospadias, Central hypothyroidism, Streak ovary, Micropenis |
ORPHA:798 |
Viss Syndrome |
|
Hypereosinophilia, Dysphagia |
OMIM:619472 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... |
OMIM:618419 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... |
OMIM:618280 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353281 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Norrie Disease |
|
Delayed puberty, Erectile dysfunction, Uterine rupture, Cryptorchidism, Diabetes mellitus |
ORPHA:649 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Liver Disease, Severe Congenital |
|
Irritability, Anemia, Lymphocytosis, Short attention span, Thrombocytopenia, Leukopenia, Splenome... |
OMIM:619991 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Dysphagia |
ORPHA:221 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... |
ORPHA:353277 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... |
OMIM:276820 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:135900 |
Peters Plus Syndrome |
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Hypospadias, Anterior hypopituitarism, Congenital hypothyroidism, Clitoral hypoplasia, Cryptorchi... |
ORPHA:709 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
Peters-Plus Syndrome |
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Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:261540 |
Pallister-Killian Syndrome |
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Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... |
OMIM:601803 |