Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Delayed femoral head ossification, Leukocytosis, Limited ... |
ORPHA:168621 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Immunodeficiency 15B |
|
Monocytosis, Failure to thrive, Reduced natural killer cell count |
OMIM:615592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis |
OMIM:616871 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Hemophagocytosis, Elevated circulating C-rea... |
OMIM:619644 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Osteopenia, Eosino... |
ORPHA:486 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Hemolytic anemia, Osteomyelitis, Unconjugated hype... |
ORPHA:232 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Myoclonus, Intention tremor, Osteopenia, Hypocholesterolemia, Thrombocytop... |
OMIM:610539 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat... |
OMIM:267700 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Increased circulating... |
OMIM:616050 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Primary amenorrhea, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, ... |
OMIM:612526 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... |
OMIM:209950 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Osteopenia, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Arthritis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased pro... |
OMIM:615559 |
Hemochromatosis, Type 2A |
|
Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea |
OMIM:602390 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Joint laxity, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:614727 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... |
OMIM:226990 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Pancytopenia, Hepatosplenomegaly, Hem... |
OMIM:603553 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... |
ORPHA:507 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Forsythe-Wakeling Syndrome |
|
Macrotia, Decreased body weight, Low-set ears, Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Increased bone mineral density, Hepatosplenomegaly, Hypertonia, Thrombocytopenia, ... |
OMIM:259720 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Hemochromatosis, Type 3 |
|
Anemia, Impotence, Arthritis, Elevated transferrin saturation, Lymphopenia, Increased circulating... |
OMIM:604250 |
Young Syndrome |
|
Azoospermia, Bronchiectasis |
OMIM:279000 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia |
OMIM:619302 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating... |
OMIM:613101 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Juvenile rheumatoid arthritis, ... |
ORPHA:158061 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... |
OMIM:613280 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopenia, Babinski sign, Ataxia, Dysmetr... |
OMIM:159550 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... |
ORPHA:1667 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Neutropenia, Ataxia, Failure to thrive, Thrombocytopenia, Athetosis, Folate-responsiv... |
OMIM:229050 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration... |
ORPHA:713 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Failure to thrive, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Intention tremor |
OMIM:613724 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Sensorineural heari... |
ORPHA:79237 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Hypogonadism, Ataxia, Lymphopenia, Hypoglycemia, Hypertriglycer... |
OMIM:617575 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os... |
OMIM:614172 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Sensorineural hearing impairment,... |
OMIM:612541 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Cranial nerve ... |
ORPHA:210110 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Gait disturbance, Hypogonadism |
ORPHA:1875 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Reticulocytosis, A... |
OMIM:612126 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Failure to thr... |
ORPHA:181393 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:2070 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... |
OMIM:618963 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in in... |
OMIM:232700 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... |
ORPHA:432 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Decreased circulating antibody level, Infertility, Azoospermia, Gait disturba... |
ORPHA:1445 |
48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... |
ORPHA:10 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lipodystrophy, Elevated circulatin... |
OMIM:618048 |
Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Thrombocytopenia, Chondrocalcin... |
OMIM:277900 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Acne |
ORPHA:3000 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Anemia, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Hyperammonemia, Thrombocy... |
ORPHA:289916 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Anemia, Splenomegaly, Ketotic hypoglycemia, Oligomenorrhea, Elevated circ... |
ORPHA:79240 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Optic atrophy, Choreoathetosis, Failure to thrive, Hyperammonemia, Thrombocytopenia, Neut... |
ORPHA:79312 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnorma... |
ORPHA:848 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cog4-Cdg |
|
Limb hypertonia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Failure to t... |
ORPHA:263501 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Hyperammonemia, Tetrapar... |
ORPHA:27 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Failure to thrive, Osteopenia, Abnormal pinna morpho... |
OMIM:617475 |
Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Reticulocytos... |
OMIM:210250 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase... |
ORPHA:3240 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Failure to thrive, Increased ... |
OMIM:278000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Acne, Azoospermia, Male hypogonadism |
ORPHA:99329 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia |
OMIM:619256 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... |
OMIM:241600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Anemia, Splenomegaly, Oligomenorrhea, Abnormal erythrocyte enzyme level, ... |
ORPHA:264580 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Hearing impairment |
ORPHA:79234 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni... |
OMIM:615285 |
Propionic Acidemia |
|
Anemia, Hyperglycinemia, Limb hypertonia, Pancytopenia, Failure to thrive, Hypoglycemia, Hyperamm... |
OMIM:606054 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Dystonia, Splenomegaly |
OMIM:615010 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Abs... |
ORPHA:66628 |
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 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
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 5 |
|
Female infertility |
OMIM:617996 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... |
OMIM:616000 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Osteolysis, Osteoporosis |
ORPHA:100024 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... |
OMIM:613011 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Rickets, Failure to thri... |
ORPHA:79303 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Thrombocytopenia, Dystonia, Hepatosplenomegaly |
OMIM:610329 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Perrault Syndrome 4 |
|
Gait ataxia, Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secon... |
OMIM:615300 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... |
ORPHA:179494 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote... |
ORPHA:529799 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Beta-Thalassemia Intermedia |
|
Increased susceptibility to fractures, Abnormality of iron homeostasis, Hypogonadism, Increased H... |
ORPHA:231222 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Optic atrophy, Increased bone mineral density, H... |
OMIM:259700 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
3-Methylglutaconic Aciduria Type 4 |
|
Spasticity, Failure to thrive, Hypoglycemia, Thrombocytopenia, Hearing impairment |
ORPHA:67048 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Joint hypermobility, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb... |
ORPHA:822 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Lymphopenia, Hypoprotein... |
ORPHA:90362 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Isolated Agammaglobulinemia |
|
Anemia, Cellulitis, Arthritis, Abnormality of neutrophils, Recurrent cutaneous abscess formation,... |
ORPHA:229717 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Camptodactyly, Failure to thrive, Elevated circulating creatinine concentration, Thromboc... |
OMIM:608104 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614897 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Abetalipoproteinemia |
|
Gait ataxia, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Upper motor neu... |
ORPHA:14 |
Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous... |
OMIM:598500 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Graft Versus Host Disease |
|
Limited elbow movement, Stiff interphalangeal joints, Arthritis, Hyperbilirubinemia, Fasciitis, L... |
ORPHA:39812 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hyperinsulinemia, Oligomenorrhea, Bone cyst, Adipose tissue loss, Insu... |
ORPHA:528 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Fumarase Deficiency |
|
Optic atrophy, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Polycythemia, Failure to ... |
OMIM:606812 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Abnormality of somatosensory evoked potentials, Limitation of movement at... |
ORPHA:206594 |
Hemochromatosis, Type 4 |
|
Anemia, Impotence, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus... |
OMIM:606069 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Infertility, Azoospermia, Chronic sinusitis, Chronic rhinitis, Absent o... |
OMIM:618300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Female infertility, Loss of ambulation, Mitoc... |
OMIM:619518 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Decreased mitochondrial number, Gait disturbance, Difficulty walking |
ORPHA:352470 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Myoclonus, Failure to thrive, Hypoglycemia, Hypertonia |
OMIM:610090 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Pyridoxine-responsive sideroblastic anemia, Abnorma... |
ORPHA:79096 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased proportion... |
OMIM:615513 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Thrombocytopenia |
OMIM:601815 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Optic atrophy, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly, Facial p... |
OMIM:615085 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Impaired ADP-induced platelet aggregation, Impaired epinephrine... |
OMIM:155100 |
Rhabdoid Tumor |
|
Anemia, Cerebral palsy, Weight loss, Hemiplegia, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Macrotia, Abnormal subcutaneous fat tissue distribution, Premature ovarian i... |
OMIM:212065 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Arthritis, Lymphopenia, Failure to thrive, Lipodystrophy, Panniculit... |
OMIM:617591 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Kennedy Disease |
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Decreased fertility, Type II diabetes mellitus, Gait disturbance, Erectile dysfunction, Testicula... |
ORPHA:481 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Edinburgh Malformation Syndrome |
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Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Failure to thrive... |
OMIM:613845 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Inability to walk, Oculogyric crisis, Abnormality of the mitochondrion, Tremor, Difficulty walkin... |
ORPHA:330050 |
Myopathy With Extrapyramidal Signs |
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Chorea, Hyperlysinemia, Optic atrophy, Clumsiness, Abnormality of extrapyramidal motor function, ... |
OMIM:615673 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... |
ORPHA:2298 |
Ovarian Dysgenesis 10 |
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Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
Androgen Insensitivity, Partial |
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Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Familial Hemophagocytic Lymphohistiocytosis |
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Anemia, Hypertriglyceridemia, Sensorineural hearing impairment, Increased circulating ferritin co... |
ORPHA:540 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Maternal Uniparental Disomy Of Chromosome X |
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Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoospermia, Ambiguous ge... |
ORPHA:261519 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Perrault Syndrome 6 |
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Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Dominant Beta-Thalassemia |
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Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Wt Limb-Blood Syndrome |
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Sensorineural hearing impairment, Radioulnar synostosis, Pancytopenia, Joint contracture of the 5... |
OMIM:194350 |
X-Linked Sideroblastic Anemia |
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Anemia, Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... |
OMIM:251880 |
Preeclampsia |
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Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ... |
ORPHA:275555 |
Mirage Syndrome |
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Leukopenia, Anemia, Radial club hand, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoglyce... |
OMIM:617053 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
X-Linked Agammaglobulinemia |
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Anemia, Osteomyelitis, Sensorineural hearing impairment, Weight loss, Cellulitis, Arthritis, Hypo... |
ORPHA:47 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Sensorineural hearing impairment, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, M... |
OMIM:124900 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Hemochromatosis, Type 2B |
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Anemia, Splenomegaly, Hypogonadism, Secondary amenorrhea, Elevated transferrin saturation, Increa... |
OMIM:613313 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Secondary amenorrhea, Hypercholesterolemia |
OMIM:301033 |
Overlap Myositis |
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Leukopenia, Abnormal circulating lipid concentration, Abnormality of connective tissue, Rheumatoi... |
ORPHA:206572 |
Alopecia-Intellectual Disability Syndrome 4 |
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Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma |
OMIM:618840 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... |
OMIM:208920 |
Lead Poisoning |
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Poor fine motor coordination, Abnormal T cell morphology, Anemia, Decreased female libido, Small ... |
ORPHA:330015 |
Amegakaryocytic Thrombocytopenia, Congenital |
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Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Myoclonus, Reticulocytosis, He... |
OMIM:618278 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Lysinuric Protein Intolerance |
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Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... |
ORPHA:470 |
Transcobalamin Deficiency |
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Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
Sea-Blue Histiocyte Disease |
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Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Osteopetrosis, Autosomal Recessive 4 |
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Anemia, Recurrent fractures, Optic atrophy, Optic disc pallor, Increased bone mineral density, Re... |
OMIM:611490 |
Atypical Hemolytic Uremic Syndrome |
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Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Classic Galactosemia |
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Decreased fertility in females, Postural tremor, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:79239 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
Spermatogenic Failure 3 |
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Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia |
ORPHA:488650 |
Cystic Echinococcosis |
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Peritoneal abscess, Weight loss, Splenic cyst, Hyperbilirubinemia, Eosinophilia, Bone cyst, Abscess |
ORPHA:400 |
47,Xyy Syndrome |
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Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
Roch-Leri Mesosomatous Lipomatosis |
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Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Ataxia, Hypercholesterolemia |
OMIM:607250 |
Acquired Partial Lipodystrophy |
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Lymphocytosis, Insulin resistance, Lipoatrophy, Hearing impairment |
ORPHA:79087 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Pearson Marrow-Pancreas Syndrome |
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Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti... |
OMIM:557000 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Irregular menstruation, Oligomenorrhea, Abnormal erythrocyte enzyme level, Elevated circulating c... |
ORPHA:370 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammone... |
OMIM:251000 |
Immunodeficiency 102 |
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Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Hemoglobin H Disease |
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HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Thrombotic Thrombocytopenic Purpura |
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Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Premature Ovarian Failure 18 |
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Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Aceruloplasminemia |
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Chorea, Anemia, Blepharospasm, Aceruloplasminemia, Abnormality of extrapyramidal motor function, ... |
OMIM:604290 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hypogonadism, Smal... |
ORPHA:73272 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Spastic dysarthria, Hypoalbuminemia, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Aggressive Systemic Mastocytosis |
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Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Osteol... |
ORPHA:98850 |
Thrombocytopenia 7 |
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Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Spermatogenic Failure, X-Linked, 4 |
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Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... |
OMIM:618849 |
Osteopetrosis, Autosomal Recessive 2 |
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